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Number of items: 273.

2024

Doherty, CM; Morrow, JM; Zuccarino, R; Howard, P; Wastling, S; Pipis, M; Zafeiropoulos, N; ... Reilly, MM; + view all (2024) Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A. Annals of Clinical and Translational Neurology 10.1002/acn3.51979. (In press). Green open access
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Gowda, V; Atherton, M; Murugan, A; Servais, L; Sheehan, J; Standing, E; Manzur, A; ... Wraige, E; + view all (2024) Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom. The Lancet Regional Health - Europe , 37 , Article 100817. 10.1016/j.lanepe.2023.100817. Green open access
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Iff, Joel; Done, Nicolae; Tuttle, Edward; Zhong, Yi; Wei, Fangzhou; Darras, Basil T; McDonald, Craig M; ... Muntoni, Francesco; + view all (2024) Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls. Muscle & Nerve 10.1002/mus.28075. (In press). Green open access
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Milev, Evelin; Selby, Victoria; Wolfe, Amy; Rohwer, Annemarie; Tillmann, Ricarda; Ramsey, Danielle; Iodice, Mario; ... Muntoni, Francesco; + view all (2024) Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3. Muscle Nerve 10.1002/mus.28041. (In press). Green open access
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Muntoni, Francesco; Byrne, Barry J; McMillan, Hugh J; Ryan, Monique M; Wong, Brenda L; Dukart, Juergen; Bansal, Amita; ... Taldefgrobep Alfa Study Group; + view all (2024) The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy. Neurology and Therapy 10.1007/s40120-023-00570-w. (In press). Green open access
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Servais, Laurent; Day, John W; De Vivo, Darryl C; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M; ... Finkel, Richard S; + view all (2024) Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases 10.3233/JND-230122. (In press). Green open access
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Töpf, Ana; Cox, Dan; Zaharieva, Irina T; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M; ... Straub, Volker; + view all (2024) Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics 10.1038/s41588-023-01651-0. (In press). Green open access
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Trimmer, Rachel E; Mandy, William PL; Muntoni, Francesco; Maresh, Kate E; (2024) Understanding anxiety experienced by young males with Duchenne Muscular Dystrophy: a qualitative focus group study. Neuromuscular Disorders , 34 pp. 95-104. 10.1016/j.nmd.2023.12.002.

Wolfe, Amy; Stimpson, Georgia; Ramsey, Danielle; Coratti, Giorgia; Dunaway Young, Sally; Mayhew, Anna; Pane, Marika; ... international SMA consortium (iSMAc); + view all (2024) Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. Journal of Neuromuscular Diseases 10.3233/JND-230211. (In press). Green open access
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2023

Ayyar Gupta, Vandana; Pitchforth, Jacqueline M; Domingos, Joana; Ridout, Deborah; Iodice, Mario; Rye, Catherine; Chesshyre, Mary; ... iMDEX Consortium and the U.K. NorthStar Clinical Network; + view all (2023) Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS One , 18 (4) , Article e0283669. 10.1371/journal.pone.0283669. Green open access
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Bönnemann, Carsten G; Belluscio, Beth A; Braun, Serge; Morris, Carl; Singh, Teji; Muntoni, Francesco; (2023) Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy. The New England Journal of Medicine , 388 (24) pp. 2294-2296. 10.1056/NEJMc2212912. Green open access
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Carrington, Glenn; Hau, Hoi Ting Abbi; Kosta, Sarah; Dugdale, Hannah F; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter YK; ... Ochala, Julien; + view all (2023) Human Skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI Insight , 8 (21) , Article e172322. 10.1172/jci.insight.172322. Green open access
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Chieffo, Daniela PR; Moriconi, Federica; Pane, Marika; Lucibello, Simona; Ferraroli, Elisabetta; Norcia, Giulia; Ricci, Martina; ... Mercuri, Eugenio; + view all (2023) A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? Journal of Clinical Medicine , 12 (2) , Article 403. 10.3390/jcm12020403. Green open access
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Chiriboga, Claudia A; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; ... JEWELFISH Study Group; + view all (2023) Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy , 12 pp. 543-557. 10.1007/s40120-023-00444-1. Green open access
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Devito, LG; Lionello, VM; Muntoni, F; Tedesco, FS; Healy, L; (2023) Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM). Stem Cell Research , 69 , Article 103079. 10.1016/j.scr.2023.103079. Gold open access
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Doisy, Mathilde; Vacca, Ophélie; Fergus, Claire; Gileadi, Talia; Verhaeg, Minou; Saoudi, Amel; Tensorer, Thomas; ... Goyenvalle, Aurélie; + view all (2023) Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model. Biomedicines , 11 (12) , Article 3243. 10.3390/biomedicines11123243. Green open access
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Falzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farnè, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; ... Ferlini, Alessandra; + view all (2023) mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies. Scientific Reports , 13 , Article 15942. 10.1038/s41598-023-43134-6. Green open access
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Freiburg, Carolin D; Solomon-Degefa, Herimela; Freiburg, Patrick; Mörgelin, Matthias; Bolduc, Véronique; Schmitz, Sebastian; Ala, Pierpaolo; ... Wagener, Raimund; + view all (2023) The UCMD-Causing COL6A1 (c:930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains. Human Mutation , 2023 , Article 6892763. 10.1155/2023/6892763. Green open access
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Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; ... Inherited Neuropathies Consortium-Rare Diseases Clinical Researc; + view all (2023) Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study. Annals of Neurology , 93 (3) pp. 563-576. 10.1002/ana.26518. Green open access
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Maresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil A; Mandy, William; Skuse, David; Muntoni, Francesco; (2023) Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency. Brain , 146 (1) pp. 252-265. 10.1093/brain/awac048. Green open access
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Mercuri, E; Seferian, AM; Servais, L; Deconinck, N; Stevenson, H; Ni, X; Zhang, W; ... Muntoni, F; + view all (2023) Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping. Neuromuscular Disorders , 33 (6) pp. 476-483. 10.1016/j.nmd.2023.03.008. Green open access
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Mercuri, Eugenio; Osorio, Andrés Nascimento; Muntoni, Francesco; Buccella, Filippo; Desguerre, Isabelle; Kirschner, Janbernd; Tulinius, Már; ... STRIDE and CINRG DNHS, investigators; + view all (2023) Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. Journal of Neurology pp. 1-18. 10.1007/s00415-023-11687-1. (In press). Green open access
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Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Lane, Henry; Jenkins, Madeline; Dieye, Ibrahima; Ward, Susan J; ... Aartsma-Rus, Annemieke; + view all (2023) DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology , 100 (15) e1540-e1554. 10.1212/WNL.0000000000201626. Green open access
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Muntoni, Francesco; Straub, Volker; Servais, Laurent; Mercuri, Eugenio; (2023) Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases , 10 (6) pp. 1151-1153. 10.3233/JND-239004. Green open access
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Naarding, Karin; Stimpson, Georgia; Ward, Susan J; Goemans, Nathalie; McDonald, Craig; Mercuri, Eugenio; Muntoni, Francesco; (2023) 269th ENMC International Workshop:10 years of Clinical trials in DMD – What have we learned? 9–11 December 2022, The Netherlands. Neuromuscular Disorders 10.1016/j.nmd.2023.10.003. (In press).

Pipis, Menelaos; Won, Seongsik; Poh, Roy; Efthymiou, Stephanie; Polke, James M; Skorupinska, Mariola; Blake, Julian; ... Reilly, Mary M; + view all (2023) Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Brain , Article awad203. 10.1093/brain/awad203. (In press). Green open access
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Proud, CM; Mercuri, E; Finkel, RS; Kirschner, J; De Vivo, DC; Muntoni, F; Saito, K; ... Servais, L; + view all (2023) Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. Annals of Clinical and Translational Neurology 10.1002/acn3.51889. (In press). Green open access
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Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna ME; ... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all (2023) Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain , Article awad187. 10.1093/brain/awad187. (In press). Green open access
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Rossi, Rachele; Torelli, Silvia; Ala, Pierpaolo; Weston, William; Morgan, Jennifer; Malhotra, Jyoti; Muntoni, Francesco; (2023) MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications. Frontiers in Physiology , 14 , Article 1145047. 10.3389/fphys.2023.1145047. Green open access
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Saoudi, Amel; Barberat, Sacha; le Coz, Olivier; Vacca, Ophélie; Doisy Caquant, Mathilde; Tensorer, Thomas; Sliwinski, Eric; ... Goyenvalle, Aurélie; + view all (2023) Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in mdx52 mice. Molecular Therapy - Nucleic Acids , 32 pp. 173-188. 10.1016/j.omtn.2023.03.009. Green open access
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Shieh, Perry B; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Seferian, Andreea M; Servais, Laurent; ... Rico, Salvador; + view all (2023) Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. The Lancet Neurology , 22 (12) pp. 1125-1139. 10.1016/S1474-4422(23)00313-7. Green open access
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Stimpson, Georgia; Ramsey, Danielle; Wolfe, Amy; Mayhew, Anna; Scoto, Mariacristina; Baranello, Giovanni; Muni Lofra, Robert; ... International SMA Consortium (iSMAc); + view all (2023) 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of Clinical Medicine , 12 (5) , Article 1920. 10.3390/jcm12051920. Green open access
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Stimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; ... NorthStar Network; + view all (2023) Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys. Journal of Neuromuscular Diseases pp. 1-14. 10.3233/JND-230159. Green open access
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Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; ... Bönnemann, Carsten G; + view all (2023) Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2023-332132. (In press). Green open access
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Weerkamp, Pien; Chieffo, Daniela; Collin, Philippe; Moriconi, Federica; Papageorgiou, Andriani; Vainieri, Isabella; Miranda, Ruben; ... Hendriksen, Jos; + view all (2023) Psychological test usage in duchenne muscular dystrophy: An EU multi-centre study. European Journal of Paediatric Neurology , 46 pp. 42-47. 10.1016/j.ejpn.2023.06.007. Green open access
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Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; ... Hanna, Michael G; + view all (2023) Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain , Article awad254. 10.1093/brain/awad254. (In press). Green open access
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Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna ME; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; ... Childhood CMT Study Group, of the Inherited Neuropathy Consortium; + view all (2023) Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure. Journal of the Peripheral Nervous System , 28 (2) pp. 237-251. 10.1111/jns.12538. Green open access
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Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna ME; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; ... Childhood CMT Study Group of the Inherited Neuropathy, Consortium; + view all (2023) Validation of the Parent-Proxy Version of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Instrument for children aged 0-7 years. Journal of the Peripheral Nervous System 10.1111/jns.12557. (In press). Green open access
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Zambon, Alberto A; Pini, Veronica; Bosco, Luca; Falzone, Yuri M; Munot, Pinki; Muntoni, Francesco; Previtali, Stefano C; (2023) Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain , 146 (3) pp. 806-822. 10.1093/brain/awac452. Green open access
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2022

Aguti, Sara; Guirguis, Fady; Bönnemann, Carsten; Muntoni, Francesco; Bolduc, Veronique; Zhou, Haiyan; (2022) Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy. In: Maruyama, R and Yokota, T, (eds.) Methods in Molecular Biology. (pp. 387-407). Springer Nature: New York, NY, USA.

Bachmann, Christoph; Franchini, Martina; Van den Bersselaar, Luuk R; Kruijt, Nick; Voermans, Nicol C; Bouman, Karlijn; Kamsteeg, Erik-Jan; ... Treves, Susan; + view all (2022) Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies. Brain Communications , 4 (5) , Article fcac224. 10.1093/braincomms/fcac224. Green open access
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Brunet Garcia, Laia; Hajra, Ankita; Field, Ella; Wacher, Joseph; Walsh, Helen; Norrish, Gabrielle; Manzur, Adnan; ... Cervi, Elena; + view all (2022) Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort. Frontiers in Pediatrics , 10 , Article 910660. 10.3389/fped.2022.910660. Green open access
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Chesshyre, Mary; Ridout, Deborah; Hashimoto, Yasumasa; Ookubo, Yoko; Torelli, Silvia; Maresh, Kate; Ricotti, Valeria; ... Muntoni, Francesco; + view all (2022) Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12914. Green open access
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Choi, SungWoo; Ferrari, Giulia; Moyle, Louise A; Mackinlay, Kirsty; Naouar, Naira; Jalal, Salma; Benedetti, Sara; ... Tedesco, Francesco Saverio; + view all (2022) Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling. EMBO Molecular Medicine , 2022 , Article e14526. 10.15252/emmm.202114526. (In press). Green open access
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Dowling, James J; Müller-Felber, Wolfgang; Smith, Barbara K; Bönnemann, Carsten G; Kuntz, Nancy L; Muntoni, Francesco; Servais, Laurent; ... INCEPTUS investigators, .; + view all (2022) INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Journal of Neuromuscular Diseases , 9 (4) pp. 503-516. 10.3233/JND-210781. Green open access
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Guja, A; Morrow Jasper, M; Adnan, M; Roxana, G; Roberta, B; Eugenio, M; Reilly, MR; ... Yousry, TA; + view all (2022) Muscle "islands": an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness. Neuromuscular Disorders , 32 (2) pp. 142-149. 10.1016/j.nmd.2021.11.003. Green open access
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Hashimoto, Yasumasa; Kuniishi, Hiroshi; Sakai, Kazuhisa; Fukushima, Yuta; Du, Xuan; Yamashiro, Kunihiko; Hori, Kei; ... Aoki, Yoshitsugu; + view all (2022) Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy. Progress in Neurobiology , 216 , Article 102288. 10.1016/j.pneurobio.2022.102288. Green open access
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Horton, Rebecca H; Saade, Dimah; Markati, Theodora; Harriss, Elinor; Bonnemann, Carsten G; Muntoni, Francesco; Servais, Laurent; (2022) A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2022-329431. (In press). Green open access
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Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; ... Taylor, J Paul; + view all (2022) Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature Communications , 13 , Article 2306. 10.1038/s41467-022-30015-1. Green open access
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MacCannell, Drew; Berger, Zdenek; Kirschner, Janbernd; Mercuri, Eugenio; Farrar, Michelle A; Iannaccone, Susan T; Kuntz, Nancy L; ... Muntoni, Francesco; + view all (2022) Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model. CNS Drugs , 36 (2) pp. 181-190. 10.1007/s40263-022-00899-0. Green open access
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Maresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil; Mandy, William; Skuse, David; Muntoni, Francesco; (2022) Development of a novel startle response task in Duchenne muscular dystrophy. PLoS ONE , 17 (4) , Article e0264091. 10.1371/journal.pone.0264091. Green open access
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McDowell, AR; Feiweier, T; Muntoni, F; Hall, MG; Clark, CA; (2022) Clinically feasible diffusion MRI in muscle: Time dependence and initial findings in Duchenne muscular dystrophy. Magnetic Resonance in Medicine , 86 (6) pp. 3192-3200. 10.1002/mrm.28945. Green open access
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McMillan, Hugh J; Proud, Crystal M; Farrar, Michelle A; Alexander, Ian E; Muntoni, Francesco; Servais, Laurent; (2022) Onasemnogene abeparvovec for the treatment of spinal muscular atrophy. Expert Opinion on Biological Therapy 10.1080/14712598.2022.2066471. (In press). Green open access
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Morera, Cristina; Kim, Jihee; Paredes-Redondo, Amaia; Nobles, Muriel; Rybin, Denis; Moccia, Robert; Kowala, Anna; ... Lin, Yung-Yao; + view all (2022) CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model. Neuromuscular Disorders 10.1016/j.nmd.2022.10.007. (In press). Green open access
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Morton, Sarah U; Christodoulou, John; Costain, Gregory; Muntoni, Francesco; Wakeling, Emma; Wojcik, Monica H; French, Courtney E; ... Agrawal, Pankaj B; + view all (2022) Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurology , 79 (4) pp. 405-413. 10.1001/jamaneurol.2022.0067. Green open access
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Munot, P; McCrea, N; Torelli, S; Manzur, A; Sewry, C; Chambers, D; Feng, L; ... Muntoni, F; + view all (2022) TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain. Neuropathology and Applied Neurobiology , 48 (2) , Article e12771. 10.1111/nan.12771. Green open access
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Muntoni, Francesco; Guglieri, Michela; Mah, Jean K; Wagner, Kathryn R; Brandsema, John F; Butterfield, Russell J; McDonald, Craig M; ... Mercuri, Eugenio; + view all (2022) Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PLoS One , 17 (8) , Article e0272858. 10.1371/journal.pone.0272858. Green open access
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Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Goemans, Nathalie; Wong, Brenda; Tian, Cuixia; Mercuri, Eugenio; ... North Star Clinical Network, PRO-DMD-01 Study, The Association F; + view all (2022) Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls. Neuromuscular Disorders 10.1016/j.nmd.2022.02.009. (In press). Green open access
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Natera-de Benito, Daniel; Jurgens, Julie A; Yeung, Alison; Zaharieva, Irina T; Manzur, Adnan; DiTroia, Stephanie P; Di Gioia, Silvio Alessandro; ... Muntoni, Francesco; + view all (2022) Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human Mutation , 43 (4) pp. 487-498. 10.1002/humu.24333. Green open access
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Perez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D; Macaya, Alfons; Danti, Federica R; Barwick, Katy; ... Kurian, Manju A; + view all (2022) The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders. Movement Disorders , 37 (11) pp. 2197-2209. 10.1002/mds.29182. Green open access
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Pini, Veronica; Mariot, Virginie; Dumonceaux, Julie; Counsell, John; O'Neill, Helen C; Farmer, Sarah; Conti, Francesco; (2022) Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications. Scientific Reports , 12 (1) , Article 3756. 10.1038/s41598-022-07671-w. Green open access
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Ramsey, Danielle; Ramdharry, Gita; Scoto, Mariacristina; Muntoni, Francesco; Wallace, Amanda; SMA REACH UK, network; (2022) Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PLoS One , 17 (12) , Article e0278996. 10.1371/journal.pone.0278996. Green open access
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Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Bertini, Enrico; Tian, Cuixia; Mah, Jean K; ... Marraffino, Shannon; + view all (2022) Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. Journal of Neurology 10.1007/s00415-022-11084-0. (In press). Green open access
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Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Tian, Cuixia; Mah, Jean K; Muntoni, Francesco; ... Marraffino, Shannon; + view all (2022) Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy. Scientific Reports , 12 (1) , Article 18762. 10.1038/s41598-022-23072-5. Green open access
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Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; ... Macek, Thomas A; + view all (2022) Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine 10.1038/s41591-022-01866-4. (In press). Green open access
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Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; ... Macek, Thomas A; + view all (2022) Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine 10.1038/s41591-022-01867-3. (In press). Green open access
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Volpatti, Jonathan R; Ghahramani-Seno, Mehdi M; Mansat, Mélanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J; Chater-Diehl, Eric; ... Dowling, James J; + view all (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica 10.1007/s00401-022-02468-7. (In press). Green open access
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Weststrate, Harriet; Stimpson, Georgia; Thomas, Lily; Scoto, Mariacristina; Johnson, Emily; Stewart, Alexandra; Muntoni, Francesco; ... Conway, Eleanor; + view all (2022) Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen. Developmental Medicine & Child Neurology 10.1111/dmcn.15171. Green open access
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Zambon, Alberto A; Ayyar Gupta, Vandana; Ridout, Deborah; Manzur, Adnan Y; Baranello, Giovanni; Trucco, Federica; Muntoni, Francesco; (2022) Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy. Developmental Medicine & Child Neurology 10.1111/dmcn.15176. (In press). Green open access
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Zambon, Alberto A; Trucco, Federica; Laverty, Aidan; Riley, Mollie; Ridout, Deborah; Manzur, Adnan Y; Abel, Francois; (2022) Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy. Neurology , 99 (12) E1216-E1226. 10.1212/WNL.0000000000200932. Green open access
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Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; ... Muntoni, Francesco; + view all (2022) Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect. Journal of Clinical Investigation , 132 (21) , Article e153430. 10.1172/JCI153430. Green open access
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2021

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790. Green open access
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Adams, SP; Gravett, E; Kent, N; Kricke, S; Ifederu, A; Scoto, M; Samsuddin, S; (2021) Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. International Journal of Neonatal Screening , 7 (4) , Article 69. 10.3390/ijns7040069. Green open access
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Baranello, G; Gorni, K; Daigl, M; Kotzeva, A; Evans, R; Hawkins, N; Scott, DA; ... Servais, L; + view all (2021) Prognostic factors and treatment-effect modifiers in spinal muscular atrophy. Clinical Pharmacology and Therapeutics 10.1002/cpt.2247. (In press). Green open access
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Ben Yaou, R; Yun, P; Dabaj, I; Norato, G; Donkervoort, S; Xiong, H; Nascimento, A; ... Bonne, G; + view all (2021) International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Communications , 3 (3) , Article fcab075. 10.1093/braincomms/fcab075. Green open access
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Coratti, G; Pera, MC; Montes, J; Pasternak, A; Scoto, M; Baranello, G; Messina, S; ... Mercuri, E; + view all (2021) Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle & Nerve , 64 (5) pp. 552-559. 10.1002/mus.27384. Green open access
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Coratti, G; Pane, M; Brogna, C; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; ... on behalf on the International DMD Group and the iMDEX Consortiu; + view all (2021) North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PLoS One , 16 (6) , Article e0253882. 10.1371/journal.pone.0253882. Green open access
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Ferlini, A; Goyenvalle, A; Muntoni, F; (2021) RNA-targeted drugs for neuromuscular diseases. Science , 371 (6524) pp. 29-31. 10.1126/science.aba4515. Green open access
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Ganassi, M; Muntoni, F; Zammit, PS; (2021) Defining and Identifying Satellite Cell-opathies within Muscular Dystrophies and Myopathies. Experimental Cell Research , Article 112906. 10.1016/j.yexcr.2021.112906. (In press). Green open access
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Heslop, E; Turner, C; Irvin, A; Muntoni, F; Straub, V; Guglieri, M; (2021) Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead. Neuromuscular Disorders , 31 (1) pp. 69-78. 10.1016/j.nmd.2020.10.001. Green open access
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Kanber, B; Morrow, JM; Klickovic, U; Wastling, S; Shah, S; Fratta, P; McDowell, AR; ... Thornton, JS; + view all (2021) Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases. Neuroinformatics , 19 pp. 379-383. 10.1007/s12021-020-09485-5. Green open access
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Lange, J; Gillham, O; Alkharji, R; Eaton, S; Ferrari, G; Madej, M; Flower, M; ... Ferretti, P; + view all (2021) Dystrophin deficiency affects human astrocyte properties andresponse to damage. Glia 10.1002/glia.24116. (In press). Green open access
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Lilien, C; Reyngoudt, H; Seferian, AM; Gidaro, T; Annoussamy, M; Che, V; Decostre, V; ... Servais, L; + view all (2021) Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.51417. (In press). Green open access
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MacCannell, D; Berger, Z; East, L; Mercuri, E; Kirschner, J; Muntoni, F; Farrar, MA; ... Finkel, RS; + view all (2021) Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen. Neuromuscular Disorders , 31 (4) pp. 310-318. 10.1016/j.nmd.2021.02.014. Green open access
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McDonald, CM; Muntoni, F; Penematsa, V; Jiang, J; Kristensen, A; Bibbiani, F; Goodwin, E; ... Guglieri, M; + view all (2021) Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. Journal of Comparative Effectiveness Research 10.2217/cer-2021-0196. (In press). Green open access
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McDonald, CM; Wei, L-J; Flanigan, KM; Elfring, G; Trifillis, P; Muntoni, F; (2021) Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle & Nerve 10.1002/mus.27396. (In press). Green open access
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Morgan, J; Muntoni, F; (2021) Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy. Journal of Neuromuscular Diseases , 8 (s2) S317-S324. 10.3233/JND-210683. Green open access
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Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; ... Houlden, H; + view all (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain 10.1093/brain/awaa420. (In press). Green open access
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Paredes-Redondo, A; Harley, P; Maniati, E; Ryan, D; Louzada, S; Meng, J; Kowala, A; ... Lin, YY; + view all (2021) Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections. Science Advances , 7 (37) 10.1126/sciadv.abi8787. Green open access
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Pera, MC; Coratti, G; Bovis, F; Pane, M; Pasternak, A; Montes, J; Sansone, VA; ... iSMAC group, ,; + view all (2021) Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. Annals of Clinical and Translational Neurology , 8 (8) pp. 1622-1634. 10.1002/acn3.51411. Green open access
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Pipis, M; Feely, SME; Polke, JM; Skorupinska, M; Perez, L; Shy, RR; Laura, M; ... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all (2021) Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain 10.1093/brain/awaa323. (In press). Green open access
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Ramchandren, S; Wu, TT; Finkel, RS; Siskind, CE; Feely, SME; Burns, J; Reilly, MM; ... Childhood CMT Study Group; + view all (2021) Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure. Annals of Neurology , 89 (2) pp. 369-379. 10.1002/ana.25966. Green open access
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Rees, M; Nikoopour, R; Fukuzawa, A; Kho, AL; Fernandez-Garcia, MA; Wraige, E; Bodi, I; ... Gautel, M; + view all (2021) Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathologia 10.1007/s00401-020-02257-0. (In press). Green open access
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Scaglioni, D; Catapano, F; Ellis, M; Torelli, S; Chambers, D; Feng, L; Beck, M; ... Muntoni, F; + view all (2021) The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy. Acta Neuropathologica Communications , 9 (1) , Article 7. 10.1186/s40478-020-01106-1. Green open access
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Servais, L; Mercuri, E; Straub, V; Guglieri, M; Seferian, AM; Scoto, M; Leone, D; ... SKIP-NMD Study Group, .; + view all (2021) Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic Acid Therapeutics 10.1089/nat.2021.0043. (In press). Green open access
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Spicer, C; Lu, C-H; Catapano, F; Scoto, M; Zaharieva, I; Malaspina, A; Morgan, JE; ... Zhou, H; + view all (2021) The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.51336. (In press). Green open access
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Stimpson, G; Chesshyre, M; Baranello, G; Muntoni, F; (2021) Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation. Frontiers in Genetics , 12 , Article 759994. 10.3389/fgene.2021.759994. Green open access
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Talenti, G; Robson, C; Severino, MS; Alves, CA; Chitayat, D; Dahmoush, H; Smith, L; ... D'Arco, F; + view all (2021) Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in alpha-Dystroglycan-Related Muscular Disorders. American Journal of Neuroradiology , 42 (1) pp. 167-172. 10.3174/ajnr.A6858. Green open access
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Torelli, S; Scaglioni, D; Sardone, V; Ellis, MJ; Domingos, J; Jones, A; Feng, L; ... Muntoni, F; + view all (2021) High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients. Journal of Neuropathology & Experimental Neurology , Article nlab088. 10.1093/jnen/nlab088. (In press). Green open access
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Wadman, R; De Amicis, R; Brusa, C; Battezzati, A; Bertoli, S; Davis, T; Main, M; ... Muntoni, F; + view all (2021) Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. Neuromuscular Disorders , 31 (2) pp. 101-112. 10.1016/j.nmd.2020.12.007. Green open access
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Wagner, KR; Guglieri, M; Ramaiah, SK; Charnas, L; Marraffino, S; Binks, M; Vaidya, VS; ... Muntoni, F; + view all (2021) Safety and disease monitoring biomarkers in Duchenne muscular dystrophy: results from a Phase II trial. Biomarkers in Medicine , 15 (15) pp. 1389-1396. 10.2217/bmm-2021-0222. Green open access
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Wolfe, A; Scoto, M; Milev, E; Lofra, RM; Abbott, L; Wake, R; Rohwer, A; ... Muntoni, F; + view all (2021) Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation. Muscle & Nerve , 64 (5) pp. 545-551. 10.1002/mus.27404. Green open access
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2020

Aguti, S; Bolduc, V; Ala, P; Turmaine, M; Bönnemann, CG; Muntoni, F; Zhou, H; (2020) Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy - Nucleic Acids , 21 pp. 205-216. 10.1016/j.omtn.2020.05.029. Green open access
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Bis-Brewer, DM; Gan-Or, Z; Sleiman, P; Rodriguez, A; Bacha, A; Kosikowski, A; Wood, B; ... Züchner, S; + view all (2020) Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine , 22 pp. 2114-2119. 10.1038/s41436-020-0924-0. Green open access
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Brown, SC; Fernandez-Fuente, M; Muntoni, F; Vissing, J; (2020) Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. Journal of Neuropathology & Experimental Neurology , 79 (12) pp. 1257-1264. 10.1093/jnen/nlaa120. Green open access
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Campbell, C; Barohn, RJ; Bertini, E; Chabrol, B; Comi, GP; Darras, BT; Finkel, RS; ... Clinical Evaluator Training Groups; + view all (2020) Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. Journal of Comparative Effectiveness Research 10.2217/cer-2020-0095. (In press). Green open access
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Capitanio, D; Moriggi, M; Torretta, E; Barbacini, P; De Palma, S; Vigano, A; Lochmueller, H; ... Gelfi, C; + view all (2020) Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12527. Green open access
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Coratti, G; Messina, S; Lucibello, S; Pera, MC; Montes, J; Pasternak, A; Stat, FB; ... Mercuri, E; + view all (2020) Clinical variability in spinal muscular atrophy type III. Annals of Neurology , 88 (6) pp. 1109-117. 10.1002/ana.25900. Green open access
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Coratti, G; Lucibello, S; Pera, MC; Duong, T; Muni Lofra, R; Civitello, M; D'Amico, A; ... ISMAC group; + view all (2020) Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscular Disorders , 30 (9) pp. 765-771. 10.1016/j.nmd.2020.07.004. Green open access
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Coratti, G; Pera, MC; Lucibello, S; Montes, J; Pasternak, A; Mayhew, A; Glanzman, AM; ... Mercuri, E; + view all (2020) Age and baseline values predict 12 and 24-month functional changes in type 2 SMA. Neuromuscular Disorders , 30 (9) pp. 756-764. 10.1016/j.nmd.2020.07.005. Green open access
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Cornett, KMD; Menezes, MP; Bray, P; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; ... CMTPedS Study Group, .; + view all (2020) Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS. Annals of Clinical and Translational Neurology , 7 (9) pp. 1713-1715. 10.1002/acn3.51145. Green open access
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Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; ... Zuchner, S; + view all (2020) Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics , 52 , Article 640. 10.1038/s41588-020-0649-7. Green open access
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Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; ... Zuchner, S; + view all (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics , 52 pp. 473-481. 10.1038/s41588-020-0615-4. Green open access
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Ferrari, G; Muntoni, F; Tedesco, FS; (2020) Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping. Stem Cell Research , 43 , Article 101688. 10.1016/j.scr.2019.101688. Green open access
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Frank, DE; Schnell, FJ; Akana, C; El-Husayni, SH; Desjardins, CA; Morgan, J; Charleston, JS; ... SKIP-NMD Study Group; + view all (2020) Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology 10.1212/WNL.0000000000009233. (In press). Green open access
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Fridman, V; Sillau, S; Acsadi, G; Bacon, C; Dooley, K; Burns, J; Day, J; ... Shy, ME; + view all (2020) A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology , 94 (9) E884-E896. 10.1212/WNL.0000000000009035. Green open access
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Hendriksen, JGM; Thangarajh, M; Kan, HE; Muntoni, F; ENMC 249th workshop study group; (2020) 249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th-December 1st 2019. Neuromuscular Disorders , 30 (9) pp. 782-794. 10.1016/j.nmd.2020.08.357. Green open access
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Kirschner, J; Butoianu, N; Goemans, N; Haberlova, J; Kostera-Pruszczyk, A; Mercuri, E; van der Pol, WL; ... Muntoni, F; + view all (2020) European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. European Journal of Paediatric Neurology 10.1016/j.ejpn.2020.07.001. (In press). Green open access
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Mariot, V; Le Guiner, C; Barthelemy, I; Montus, M; Blot, S; Torelli, S; Morgan, J; ... Dumonceaux, J; + view all (2020) Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne Muscular Dystrophy. Molecular Therapy - Methods and Clinical Development , 18 pp. 415-421. 10.1016/j.omtm.2020.06.016. Green open access
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Matalonga, L; Laurie, S; Papakonstantinou, A; Piscia, D; Mereu, E; Bullich, G; Thompson, R; ... RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Con, .; + view all (2020) Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. The Journal of Molecular Diagnostics , 22 (9) pp. 1205-1215. 10.1016/j.jmoldx.2020.06.008. Green open access
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McDonald, CM; Sajeev, G; Yao, Z; McDonnell, E; Elfring, G; Souza, M; Peltz, SW; ... Wong, B; + view all (2020) Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials. Muscle & Nerve , 61 (1) pp. 26-35. 10.1002/mus.26736. Green open access
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Meng, J; Sweeney, N; Doreste, B; Muntoni, F; McClure, M; Morgan, J; (2020) Restoration of Functional Full-Length Dystrophin After Intramuscular Transplantation of Foamy Virus-Transduced Myoblasts. Human Gene Therapy , 31 (3-4) 10.1089/hum.2019.224. Green open access
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Mercuri, E; Muntoni, F; Osorio, AN; Tulinius, M; Buccella, F; Morgenroth, LP; Gordish-Dressman, H; ... CINRG Duchenne Natural History Investigators; + view all (2020) Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. Journal of Comparative Effectiveness Research 10.2217/cer-2019-0171. Green open access
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Muntoni, F; Bertini, E; Comi, G; Kirschner, J; Lusakowska, A; Mercuri, E; Scoto, M; ... Fuerst-Recktenwald, S; + view all (2020) Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial. Neuromuscular Disorders , 30 (12) pp. 959-969. 10.1016/j.nmd.2020.10.008. Green open access
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Nemani, T; Steel, D; Kaliakatsos, M; DeVile, C; Ververi, A; Scott, R; Getov, S; ... Munot, P; + view all (2020) KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement. Journal of the Peripheral Nervous System , 25 (2) pp. 117-124. 10.1111/jns.12368. Green open access
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Passarelli, C; Selvatici, R; Carrieri, A; Di Raimo, FR; Falzarano, MS; Fortunato, F; Rossi, R; ... Ferlini, A; + view all (2020) Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Frontiers in Genetics , 11 , Article 605. 10.3389/fgene.2020.00605. Green open access
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Pizzamiglio, C; Lahiri, N; Nirmalananthan, N; Sood, B; Somalanka, S; Ostrowski, P; Phadke, R; ... Quinlivan, R; + view all (2020) First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscular Disorders , 30 (7) pp. 566-571. 10.1016/j.nmd.2020.05.004. Green open access
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Previtali, SC; Gidaro, T; Díaz-Manera, J; Zambon, A; Carnesecchi, S; Roux-Lombard, P; Spitali, P; ... Muntoni, F; + view all (2020) Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy. Pharmacological Research , 159 , Article 104999. 10.1016/j.phrs.2020.104999. Green open access
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Rossor, AM; Sleigh, JN; Groves, M; Muntoni, F; Reilly, MM; Hoogenraad, CC; Schiavo, G; (2020) Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. Acta Neuropathol Commun , 8 , Article 34. 10.1186/s40478-020-00909-6. Green open access
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Sarkozy, A; Foley, AR; Zambon, AA; Bönnemann, CG; Muntoni, F; (2020) LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. Frontiers in Molecular Neuroscience , 13 , Article 123. 10.3389/fnmol.2020.00123. Green open access
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Scaglioni, D; Ellis, M; Catapano, F; Torelli, S; Chambers, D; Feng, L; Sewry, C; ... Phadke, R; + view all (2020) A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies. Acta Neuropathologica Communications , 8 , Article 53. 10.1186/s40478-020-00918-5. Green open access
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Silwal, A; Sarkozy, A; Scoto, M; Ridout, D; Schmidt, A; Laverty, A; Henriques, M; ... Muntoni, F; + view all (2020) Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials. Annals of Clinical and Translational Neurology , 7 (11) pp. 2288-2296. 10.1002/acn3.51218. Green open access
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Spitali, P; Zaharieva, I; Bohringer, S; Hiller, M; Chaouch, A; Roos, A; Scotton, C; ... Aartsma-Rus, A; + view all (2020) TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. European Journal of Human Genetics 10.1038/s41431-019-0563-6. (In press). Green open access
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Sprute, R; Jergas, H; Ölmez, A; Alawbathani, S; Karasoy, H; Salimi Dafsari, H; Becker, K; ... Cirak, S; + view all (2020) Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. American Journal of Medical Genetics Part A 10.1002/ajmg.a.61951. (In press). Green open access
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Strandberg, K; Ayoglu, B; Roos, A; Reza, M; Niks, E; Signorelli, M; Fasterius, E; ... Szigyarto, CA-K; + view all (2020) Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. Journal of Neuromuscular Diseases , 7 (3) pp. 231-246. 10.3233/JND-190454. Green open access
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Trucco, F; Domingos, J; Tay, CG; Ridout, D; Maresh, K; Munot, P; Sarkozy, A; ... Muntoni, F; + view all (2020) Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study. Chest , 158 (4) pp. 1606-1616. 10.1016/j.chest.2020.04.043. Green open access
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Trucco, F; Ridout, D; Scoto, M; Coratti, G; Main, ML; Lofra, RM; Mayhew, AG; ... International SMA consortium (iSMAc); + view all (2020) Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study. Neurology 10.1212/WNL.0000000000011051. (In press). Green open access
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Tsang, MHY; Chiu, ATG; Kwong, BMH; Liang, R; Yu, MHC; Yeung, K-S; Ho, WHL; ... Chan, SHS; + view all (2020) Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular Genetics & Genomic Medicin , 8 (5) , Article e1205. 10.1002/mgg3.1205. Green open access
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Walimbe, AS; Okuma, H; Joseph, S; Yang, T; Yonekawa, T; Hord, JM; Venzke, D; ... Campbell, KP; + view all (2020) POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan. Elife , 9 , Article e61388. 10.7554/eLife.61388. (In press). Green open access
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Zambon, AA; Pitt, M; Laurà, M; Polke, JM; Reilly, MM; Muntoni, F; (2020) A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia. Journal of the Peripheral Nervous System , 25 (3) pp. 303-307. 10.1111/jns.12386. Green open access
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Zambon, AA; Ridout, D; Main, M; Mein, R; Phadke, R; Muntoni, F; Sarkozy, A; (2020) LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort. Annals of Clinical and Translational Neurology , 7 (10) pp. 18870-1882. 10.1002/acn3.51172. Green open access
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Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; ... Muntoni, F; + view all (2020) Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12542. (In press). Green open access
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Zhou, H; Muntoni, F; (2020) The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al . [Letter]. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12608. (In press). Green open access
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2019

Aartsma-Rus, A; Morgan, J; Lonkar, P; Neubert, H; Owens, J; Binks, M; Montolio, M; ... Arechavala-Gomeza, V; + view all (2019) Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology. Journal of Neuromuscular Diseases 10.3233/JND-180357. (In press). Green open access
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Angius, A; Uva, P; Oppo, M; Buers, I; Persico, I; Onano, S; Cuccuru, G; ... Crisponi, L; + view all (2019) Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Clinical Genetics , 95 (5) pp. 607-614. 10.1111/cge.13532. Green open access
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Ardicli, D; Sarkozy, A; Zaharieva, I; Deshpande, C; Bodi, I; Siddiqui, A; U-King-Im, JM; ... Muntoni, F; + view all (2019) A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscular Disorders , 29 (6) pp. 448-455. 10.1016/j.nmd.2019.03.011. Green open access
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Bachmann, C; Noreen, F; Voermans, NC; Schar, PL; Vissing, J; Fock, JM; Bulk, S; ... Treves, S; + view all (2019) Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human Mutation , 40 (7) pp. 962-974. 10.1002/humu.23745. Green open access
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Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; ... Bönnemann, CG; + view all (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight , 4 (6) 10.1172/jci.insight.124403. Green open access
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Brogna, C; Coratti, G; Pane, M; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; ... on behalf on the International DMD group, .; + view all (2019) Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One , 14 (6) , Article e0218683. 10.1371/journal.pone.0218683. Green open access
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Darras, BT; Crawford, TO; Finkel, RS; Mercuri, E; De Vivo, DC; Oskoui, M; Tizzano, EF; ... Sumner, CJ; + view all (2019) Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (5) pp. 932-944. 10.1002/acn3.779. Green open access
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Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; (2019) Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. Human Molecular Genetics , 28 (11) pp. 1872-1884. 10.1093/hmg/ddz025. Green open access
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Graham, RJ; Muntoni, F; Hughes, I; Yum, SW; Kuntz, NL; Yang, ML; Byrne, BJ; ... Beggs, AH; + view all (2019) Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Archives of Disease in Childhood 10.1136/archdischild-2019-317910. (In press). Green open access
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Hafner, P; Phadke, R; Manzur, A; Smitha, R; Jaiser, S; Schutz, P; Sewry, C; ... Pitt, M; + view all (2019) Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review. Neuromuscular Disorders , 29 (1) pp. 14-20. 10.1016/j.nmd.2018.10.003. Green open access
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Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; ... St Pourcain, B; + view all (2019) Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications , 10 , Article 357. 10.1038/s41467-018-07863-x. Green open access
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Jungbluth, H; Muntoni, F; (2019) Therapeutic Aspects in Congenital Myopathies. Seminars in Pediatric Neurology , 29 pp. 71-82. 10.1016/j.spen.2019.01.004. Green open access
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Kim, J; Lana, B; Torelli, S; Ryan, D; Catapano, F; Ala, P; Luft, C; ... Lin, Y-Y; + view all (2019) A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. EMBO Reports , Article e47967. 10.15252/embr.201947967. (In press). Green open access
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Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116. Green open access
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Meinke, P; Kerr, ARW; Czapiewski, R; de Las Heras, JI; Dixon, CR; Harris, E; Kölbel, H; ... Schirmer, EC; + view all (2019) A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. EBioMedicine 10.1016/j.ebiom.2019.11.048. (In press). Green open access
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Mercuri, E; Bonnemann, CG; Muntoni, F; (2019) Muscular dystrophies. The Lancet , 394 (10213) pp. 2025-2038. 10.1016/S0140-6736(19)32910-1. Green open access
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Montes, J; Dunaway Young, S; Mazzone, ES; Pasternak, A; Glanzman, AM; Finkel, RS; Darras, BT; ... CS2 and CS12 Study Groups, .; + view all (2019) Nusinersen Improves Walking Distance and Reduces Fatigue in Later-Onset SMA. Muscle & Nerve , 60 (4) pp. 409-414. 10.1002/mus.26633. Green open access
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Morgan, J; Butler-Browne, G; Muntoni, F; Patel, K; Skeletal Muscle Stem Cells Involvement in Pathology Study Group; (2019) 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands. Neuromuscular Disorders , 29 (9) pp. 704-715. 10.1016/j.nmd.2019.07.003. Green open access
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Muntoni, F; Desguerre, I; Guglieri, M; Osorio, AN; Kirschner, J; Tulinius, M; Buccella, F; ... Mercuri, E; + view all (2019) Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. Journal of Comparative Effectiveness Research 10.2217/cer-2019-0086. (In press). Green open access
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Muntoni, F; Domingos, J; Manzur, AY; Mayhew, A; Guglieri, M; UK NorthStar Network, .; Sajeev, G; ... Ward, SJ; + view all (2019) Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS One , 14 (9) , Article e0221097. 10.1371/journal.pone.0221097. Green open access
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Muntoni, F; Tejura, B; Spinty, S; Roper, H; Hughes, I; Layton, G; Davies, KE; ... Tinsley, J; + view all (2019) A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet. Clinical Pharmacology in Drug Development , 8 (7) pp. 922-933. 10.1002/cpdd.642. Green open access
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Pera, MC; Coratti, G; Mazzone, ES; Montes, J; Scoto, M; De Sanctis, R; Main, M; ... iSMAC Consortium Group, .; + view all (2019) Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle Nerve , 59 (4) pp. 426-430. 10.1002/mus.26419. Green open access
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Ricotti, V; Selby, V; Ridout, D; Domingos, J; Decostre, V; Mayhew, A; Eagle, M; ... Muntoni, F; + view all (2019) Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. Neuromuscular Disorders , 29 (4) pp. 261-268. 10.1016/j.nmd.2019.02.002. Green open access
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Signorelli, M; Ayoglu, B; Johansson, C; Lochmüller, H; Straub, V; Muntoni, F; Niks, E; ... Spitali, P; + view all (2019) Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12517. (In press). Green open access
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Verhaart, IEC; Johnson, A; Thakrar, S; Vroom, E; De Angelis, F; Muntoni, F; Aartsma-Rus, AM; (2019) Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective. Neuromuscular Disorders 10.1016/j.nmd.2019.06.004. (In press). Green open access
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2018

Astrea, G; Romano, A; Angelini, C; Antozzi, CG; Barresi, R; Battini, R; Battisti, C; ... Santorelli, FM; + view all (2018) Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet Journal of Rare Diseases , 13 , Article 170. 10.1186/s13023-018-0863-x. Green open access
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Bishop, CA; Ricotti, V; Sinclair, CDJ; Evans, MRB; Butler, JW; Morrow, JM; Hanna, MG; ... Janiczek, RL; + view all (2018) Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. Frontiers in Neurology , 9 , Article 9. 10.3389/fneur.2018.00009. Green open access
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Bourke, JP; Watson, G; Muntoni, F; Spinty, S; Roper, H; Guglieri, M; Speed, C; ... DMD Heart Protection study group, .; + view all (2018) Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study. BMJ Open , 8 (12) , Article e022572. 10.1136/bmjopen-2018-022572. Green open access
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Catapano, F; Domingos, J; Perry, M; Ricotti, V; Phillips, L; Servais, L; Seferian, A; ... Muntoni, F; + view all (2018) Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. Epigenomics , 10 (7) pp. 875-889. 10.2217/epi-2018-0022. Green open access
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Cossu, G; Birchall, M; Brown, T; De Coppi, P; Culme-Seymour, E; Gibbon, S; Hitchcock, J; ... Wilson, JGS; + view all (2018) Lancet Commission: Stem Cells and Regenerative Medicine. The Lancet , 391 (10123) pp. 883-910. 10.1016/S0140-6736(17)31366-1. Green open access
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Domingos, J; Ricotti, V; Martinez, AE; Muntoni, F; (2018) Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy. Neuromuscular Disorders , 28 (2) pp. 176-177. 10.1016/j.nmd.2017.11.015. Green open access
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Finkel, RS; Mercuri, E; Meyer, OH; Simonds, AK; Schroth, MK; Graham, RJ; Kirschner, J; ... Sejersen, T; + view all (2018) Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders , 28 (3) pp. 197-207. 10.1016/j.nmd.2017.11.004. Green open access
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Hiller, M; Falzarano, MS; Garcia-Jimenez, I; Sardone, V; Verheul, RC; Popplewell, L; Anthony, K; ... Spitali, P; + view all (2018) A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. PLoS One , 13 (10) , Article e0204485. 10.1371/journal.pone.0204485. Green open access
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Jungbluth, H; Treves, S; Zorzato, F; Sarkozy, A; Ochala, J; Sewry, C; Phadke, R; ... Muntoni, F; + view all (2018) Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. [Review]. Nature Reviews Neurology , 14 (3) pp. 151-167. 10.1038/nrneurol.2017.191. Green open access
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Lochmüller, H; Evans, D; Farwell, W; Finkel, R; Goemans, N; de Lemus, M; Matyushenko, V; ... Wilson, P; + view all (2018) Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. Journal of Neuromuscular Diseases , 5 (2) pp. 131-133. 10.3233/JND-180325. Green open access
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Matthews, E; Hartley, L; Sud, R; Hanna, MG; Muntoni, F; Munot, P; (2018) Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy. [Letter]. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2017-317849. Green open access
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Meng, J; Muntoni, F; Morgan, J; (2018) CD133+cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability. Stem Cell Research , 30 pp. 43-52. 10.1016/j.scr.2018.05.004. Green open access
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Mercuri, E; Finkel, RS; Muntoni, F; Wirth, B; Montes, J; Main, M; Mazzone, ES; ... SMA Care Group, .; + view all (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders , 28 (2) pp. 103-115. 10.1016/j.nmd.2017.11.005. Green open access
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Montes, J; McDermott, MP; Mirek, E; Mazzone, ES; Main, M; Glanzman, AM; Duong, T; ... Mercuri, E; + view all (2018) Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. PLoS ONE , 13 (6) , Article e0199657. 10.1371/journal.pone.0199657. Green open access
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Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; ... Bencze, M; + view all (2018) Publisher Correction: Necroptosis Mediates Myofibre Death in Dystrophin-deficient Mice. [Corrigendum]. Nature Communications , 9 (1) , Article 4107. 10.1038/s41467-018-06636-w. Green open access
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Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; ... Bencze, M; + view all (2018) Necroptosis mediates myofibre death in dystrophin-deficient mice. Nature Communications , 9 , Article 3655. 10.1038/s41467-018-06057-9. Green open access
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Ravenscroft, G; Zaharieva, I; Bortolotti, CA; Lambrughi, M; Pignataro, M; Borsari, M; Sewry, CA; ... Muntoni, F; + view all (2018) Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Human Molecular Genetics , 27 (24) pp. 4263-4272. 10.1093/hmg/ddy320. Green open access
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Sardone, V; Ellis, M; Torelli, S; Feng, L; Chambers, D; Eastwood, D; Sewry, C; ... Muntoni, F; + view all (2018) A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. PLoS One , 13 (3) , Article e0194540. 10.1371/journal.pone.0194540. Green open access
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Sarkozy, A; Torelli, S; Mein, R; Henderson, M; Phadke, R; Feng, L; Sewry, CA; ... Muntoni, F; + view all (2018) Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry , 89 (7) pp. 762-768. 10.1136/jnnp-2017-316956. Green open access
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Scoto, M; Finkel, R; Mercuri, E; Muntoni, F; (2018) Genetic therapies for inherited neuromuscular disorders. The Lancet Child & Adolescent Health , 2 (8) pp. 600-609. 10.1016/S2352-4642(18)30140-8. Green open access
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Silwal, A; Pitt, M; Phadke, R; Mankad, K; Davison, JE; Rossor, A; DeVile, C; ... Munot, P; + view all (2018) Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy. Neuromuscular Disorders , 28 (9) pp. 757-765. 10.1016/j.nmd.2018.06.001. Green open access
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Spitali, P; Hettne, K; Tsonaka, R; Charrout, M; van den Bergen, J; Koeks, Z; Kan, HE; ... Aartsma-Rus, A; + view all (2018) Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies. Journal of Cachexia, Sarcopenia and Muscle , 9 (4) pp. 715-726. 10.1002/jcsm.12304. Green open access
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Suman, M; Sharpe, JA; Bentham, RB; Kotiadis, VN; Menegollo, M; Pignataro, V; Molgó, J; ... Szabadkai, G; + view all (2018) Inositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients. Human Molecular Genetics , 27 (13) pp. 2367-2382. 10.1093/hmg/ddy149. Green open access
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Ullmann, U; D’Argenzio, L; Mathur, S; Whyte, T; Quinlivan, R; Longman, C; Farrugia, ME; ... Muntoni, F; + view all (2018) ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects. Neuromuscular Disorders , 28 (9) pp. 741-749. 10.1016/j.nmd.2018.05.012. Green open access
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Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; ... Muntoni, F; + view all (2018) STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human Mutation , 39 (12) pp. 1980-1994. 10.1002/humu.23635. Green open access
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Zhou, H; Muntoni, F; (2018) Morpholino-Mediated Exon Inclusion for SMA. Exon Skipping and Inclusion Therapies , 1828 pp. 467-477. 10.1007/978-1-4939-8651-4_29. Green open access
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2017

Aartsma-Rus, A; Straub, V; Hemmings, R; Haas, M; Schlosser-Weber, G; Stoyanova-Beninska, V; Mercuri, E; ... Balabanov, P; + view all (2017) Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues. [Review]. Nucleic Acid Ther 10.1089/nat.2017.0682. (In press). Green open access
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Bachmann, C; Jungbluth, H; Muntoni, F; Manzur, AY; Zorzato, F; Treves, S; (2017) Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Human Molecular Genetics , 26 (2) pp. 320-332. 10.1093/hmg/ddw388. Green open access
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Bernabò, P; Tebaldi, T; Groen, EJN; Lane, FM; Perenthaler, E; Mattedi, F; Newbery, HJ; ... Viero, G; + view all (2017) In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. Cell Reports , 21 (4) pp. 953-965. 10.1016/j.celrep.2017.10.010. Green open access
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Bertini, E; Dessaud, E; Mercuri, E; Muntoni, F; Kirschner, J; Reid, C; Lusakowska, A; ... Fontoura, P; + view all (2017) Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurology , 16 (7) pp. 513-522. 10.1016/S1474-4422(17)30085-6. Green open access
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Cornett, KM; Menezes, MP; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; Estilow, T; ... CMTPedS Study Group, .; + view all (2017) Natural history of Charcot-Marie-Tooth disease during childhood. Annals of Neurology , 82 (3) pp. 353-359. 10.1002/ana.25009. Green open access
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Counsell, JR; Asgarian, Z; Meng, J; Ferrer, V; Vink, CA; Howe, SJ; Waddington, SN; ... Danos, O; + view all (2017) Lentiviral vectors can be used for full-length dystrophin gene therapy. Scientific Reports , 7 , Article 44775. 10.1038/srep44775. Green open access
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Cummings, BB; Marshall, JL; Tukiainen, T; Lek, M; Donkervoort, S; Foley, AR; Bolduc, V; ... MacArthur, DG; + view all (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine , 9 (386) 10.1126/scitranslmed.aa15209. Green open access
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Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; ... Baxter, P; + view all (2017) Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation. Health Technology Assessment , 21 (27) 10.3310/hta21270. Green open access
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Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; ... Baxter, P; + view all (2017) Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial. Pilot and Feasibility Studies , 3 , Article 16. 10.1186/s40814-017-0132-0. Green open access
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Lourbakos, A; Yau, N; de Bruijn, P; Hiller, M; Kozaczynska, K; Jean-Baptiste, R; Reza, M; ... Spitali, P; + view all (2017) Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Scientific Reports , 7 , Article 17888. 10.1038/s41598-017-17982-y. Green open access
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Manole, A; Jaunmuktane, Z; Hargreaves, I; Ludtmann, MHR; Salpietro, V; Bello, OD; Pope, S; ... Houlden, H; + view all (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain , 140 (11) pp. 2820-2837. 10.1093/brain/awx231. Green open access
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Mariot, V; Joubert, R; Hourdé, C; Féasson, L; Hanna, M; Muntoni, F; Maisonobe, T; ... Dumonceaux, J; + view all (2017) Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Nature Communications , 8 , Article 1859. 10.1038/s41467-017-01486-4. Green open access
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Marrosu, E; Ala, P; Muntoni, F; Zhou, H; (2017) Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. Molecular Therapy - Nucleic Acids , 8 pp. 416-427. 10.1016/j.omtn.2017.07.006. Green open access
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Matthews, E; Silwal, A; Sud, R; Hanna, MG; Manzur, AY; Muntoni, F; Munot, P; (2017) Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. Journal of Pediatrics , 188 181-185.e6. 10.1016/j.jpeds.2017.05.081. Green open access
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McDonald, CM; Campbell, C; Erazo Torricelli, R; Finkel, RS; Flanigan, KM; Goemans, N; Heydemann, P; ... Mercuri, E; + view all (2017) Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet , 390 (10101) pp. 1489-1498. 10.1016/S0140-6736(17)31611-2. Green open access
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Nasca, A; Scotton, C; Zaharieva, I; Neri, M; Selvatici, R; Magnusson, OT; Gal, A; ... Ghezzi, D; + view all (2017) Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Human Mutation , 38 (8) pp. 970-977. 10.1002/humu.23262. Green open access
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O'Neill, HC; Pini, V; Muntoni, F; Morgan, J; (2017) Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies. Current Stem Cell Reports , 3 (2) pp. 137-148. 10.1007/s40778-017-0076-6. Green open access
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Olcese, C; Patel, MP; Shoemark, A; Kiviluoto, S; Legendre, M; Williams, HJ; Vaughan, CK; ... Mitchison, HM; + view all (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications , 8 , Article 14279. 10.1038/ncomms14279. Green open access
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Pera, MC; Coratti, G; Forcina, N; Mazzone, ES; Scoto, M; Montes, J; Pasternak, A; ... Mercuri, E; + view all (2017) Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurology , 17 (1) , Article 39. 10.1186/s12883-017-0790-9. Green open access
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Ramsey, D; Scoto, M; Mayhew, A; Main, M; Mazzone, ES; Montes, J; de Sanctis, R; ... Muntoni, F; + view all (2017) Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PLoS One , 12 (2) , Article e0172346. 10.1371/journal.pone.0172346. Green open access
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Reza, M; Cox, D; Phillips, L; Johnson, D; Manoharan, V; Grieves, M; Davis, B; ... Lochmüller, H; + view all (2017) MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscular Disorders , 27 (11) pp. 1054-1064. 10.1016/j.nmd.2017.07.001. Green open access
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Ross, JA; Webster, RG; Lechertier, T; Reynolds, LE; Turmaine, M; Bencze, M; Jamshidi, Y; ... Conti, FJ; + view all (2017) Multiple roles of integrin-α3 at the neuromuscular junction. Journal of Cell Science , 130 (10) pp. 1772-1784. 10.1242/jcs.201103. Green open access
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Sardone, V; Zhou, H; Muntoni, F; Ferlini, A; Falzarano, MS; (2017) Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. Molecules , 22 (4) , Article 563. 10.3390/molecules22040563. Green open access
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Scoto, M; Finkel, RS; Mercuri, E; Muntoni, F; (2017) Therapeutic approaches for spinal muscular atrophy (SMA). Gene Therapy , 24 (9) pp. 514-519. 10.1038/gt.2017.45. Green open access
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Tansley, SL; Simou, S; Shaddick, G; Betteridge, ZE; Almeida, B; Gunawardena, H; Thomson, W; ... McHugh, NJ; + view all (2017) Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort. J Autoimmun 10.1016/j.jaut.2017.06.007. (In press). Green open access
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Treves, S; Jungbluth, H; Voermans, N; Muntoni, F; Zorzato, F; (2017) Ca²⁺ handling abnormalities in early-onset muscle diseases: novel concepts and perspectives. Seminars in Cell & Developmental Biology , 64 pp. 201-212. 10.1016/j.semcdb.2016.07.017. Green open access
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Wiessner, M; Roos, A; Munn, CJ; Viswanathan, R; Whyte, T; Cox, D; Schoser, B; ... Senderek, J; + view all (2017) Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. The American Journal of Human Genetics , 100 (3) pp. 523-536. 10.1016/j.ajhg.2017.01.024. Green open access
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2016

Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; ... UK10K Rare Diseases Group; + view all (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications , 7 , Article 11491. 10.1038/ncomms11491. Green open access
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Catapano, F; Zaharieva, I; Scoto, M; Marrosu, E; Morgan, J; Muntoni, F; Zhou, H; (2016) Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy. Molecular Therapy-Nucleic Acids , 5 , Article e331. 10.1038/mtna.2016.47. Green open access
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Cornett, KM; Menezes, MP; Bray, P; Halaki, M; Shy, RR; Yum, SW; Estilow, T; ... Inherited Neuropathies Consortium; + view all (2016) Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. JAMA Neurology , 73 (6) pp. 645-651. 10.1001/jamaneurol.2016.0171. Green open access
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De Sanctis, R; Coratti, G; Pasternak, A; Montes, J; Pane, M; Mazzone, ES; Young, SD; ... Mercuri, E; + view all (2016) Developmental milestones in type I spinal muscular atrophy. Neuromuscular Disorders , 26 (11) pp. 754-759. 10.1016/j.nmd.2016.10.002. Green open access
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Hammond, SM; Hazell, G; Shabanpoor, F; Saleh, AF; Bowerman, M; Sleigh, JN; Meijboom, KE; ... Wood, MJ; + view all (2016) Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America , 113 (39) pp. 10962-10967. 10.1073/pnas.1605731113. Green open access
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Heywood, WE; Bliss, E; Mills, P; Yuzugulen, J; Carreno, G; Clayton, PT; Muntoni, F; ... Grunewald, S; + view all (2016) Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Molecular Genetics and Metabolism Reports , 7 pp. 55-62. 10.1016/j.ymgmr.2016.03.002. Green open access
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Horga, A; Tomaselli, PJ; Gonzalez, MA; Laurà, M; Muntoni, F; Manzur, AY; Hanna, MG; ... Reilly, MM; + view all (2016) SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology , 87 (15) pp. 1607-1612. 10.1212/WNL.0000000000003212. Green open access
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Janghra, N; Morgan, JE; Sewry, CA; Wilson, FX; Davies, KE; Muntoni, F; Tinsley, J; (2016) Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. PLoS One , 11 (3) , Article e0150818. 10.1371/journal.pone.0150818. Green open access
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Jungbluth, H; Dowling, JJ; Ferreiro, A; Muntoni, F; (2016) 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016. Neuromuscular Disorders , 26 (9) pp. 624-633. 10.1016/j.nmd.2016.06.001. Green open access
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Lopez, RJ; Byrne, S; Vukcevic, M; Sekulic-Jablanovic, M; Xu, L; Brink, M; Alamelu, J; ... Jungbluth, H; + view all (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling , 9 (435) , Article ra68. 10.1126/scisignal.aad9813. Green open access
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Meng, J; Counsell, JR; Reza, M; Laval, SH; Danos, O; Thrasher, A; Lochmüller, H; ... Morgan, JE; + view all (2016) Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Scientific Reports , 6 , Article 19750. 10.1038/srep19750. Green open access
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Mercuri, E; Coratti, G; Messina, S; Ricotti, V; Baranello, G; D'Amico, A; Pera, MC; ... Pane, M; + view all (2016) Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy. PLoS ONE , 11 (8) , Article e0160195. 10.1371/journal.pone.0160195. Green open access
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O'Grady, GL; Lek, M; Lamande, SR; Waddell, L; Oates, EC; Punetha, J; Ghaoui, R; ... North, K; + view all (2016) Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals of Neurology , 80 (1) pp. 101-111. 10.1002/ana.24687. Green open access
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Perry, MM; Muntoni, F; (2016) Noncoding RNAs and Duchenne muscular dystrophy. Epigenomics , 8 (11) pp. 1527-1537. 10.2217/epi-2016-0088. Green open access
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Ricotti, V; Ridout, DA; Pane, M; Main, M; Mayhew, A; Mercuri, E; Manzur, AY; ... on behalf of UK NorthStar Clinical Network, .; + view all (2016) The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. Journal of Neurology, Neurosurgery & Psychiatry , 87 pp. 149-155. 10.1136/jnnp-2014-309405. Green open access
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Ricotti, V; (2016) Evolving natural history in Duchenne muscular dystrophy: implications for standard of care and experimental therapies. Doctoral thesis , UCL (University College London). Green open access
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Ricotti, V; Evans, MRB; Sinclair, CDJ; Butler, JW; Ridout, DA; Hogrel, J-Y; Emira, A; ... Thornton, JS; + view all (2016) Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials. PLOS ONE , 11 (9) 10.1371/journal.pone.0162542. Green open access
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Ricotti, V; Spinty, S; Roper, H; Hughes, I; Tejura, B; Robinson, N; Layton, G; ... Tinsley, J; + view all (2016) Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy. PLoS One , 11 (4) , Article e0152840. 10.1371/journal.pone.0152840. Green open access
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Rodríguez Cruz, PM; Belaya, K; Basiri, K; Sedghi, M; Farrugia, ME; Holton, JL; Liu, WW; ... Beeson, D; + view all (2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Journal of Neurology, Neurosurgery & Psychiatry , 87 (8) pp. 802-809. 10.1136/jnnp-2016-313163. Green open access
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Schartner, V; Romero, NB; Donkervoort, S; Treves, S; Munot, P; Pierson, TM; Dabaj, I; ... Laporte, J; + view all (2016) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathologica , 133 (4) pp. 517-533. 10.1007/s00401-016-1656-8. Green open access
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Scotton, C; Bovolenta, M; Schwartz, E; Falzarano, MS; Martoni, E; Passarelli, C; Armaroli, A; ... Ferlini, A; + view all (2016) Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. Journal of Cell Science , 129 (8) pp. 1671-1684. 10.1242/jcs.175927. Green open access
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Sintusek, P; Catapano, F; Angkathunkayul, N; Marrosu, E; Parson, SH; Morgan, JE; Muntoni, F; (2016) Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment. PLOS One , 11 (5) , Article e0155032. 10.1371/journal.pone.0155032. Green open access
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Szunyogova, E; Zhou, H; Maxwell, GK; Powis, RA; Francesco, M; Gillingwater, TH; Parson, SH; (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. SCIENTIFIC REPORTS , 6 (ARTN 346) 10.1038/srep34635. Green open access
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2015

Fridman, V; Bundy, B; Reilly, MM; Pareyson, D; Bacon, C; Burns, J; Day, J; ... Shy, ME; + view all (2015) CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Journal of Neurology, Neurosurgery & Psychiatry , 86 (8) pp. 873-878. 10.1136/jnnp-2014-308826. Green open access
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van den Bergen, JC; Hiller, M; Böhringer, S; Vijfhuizen, L; Ginjaar, I; Chaouch, A; Bushby, K; ... Spitali, P; + view all (2015) Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. Journal of Neurology, Neurosurgery and Psychiatry , 86 (10) 1060 -1065. 10.1136/jnnp-2014-308409. Green open access
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Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; ... Zhang, W; + view all (2015) The UK10K project identifies rare variants in health and disease. Nature , 526 (7571) pp. 82-90. 10.1038/nature14962. Green open access
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2014

Anthony, K; Arechavala-Gomeza, V; Ricotti, V; Torelli, S; Feng, L; Janghra, N; Tasca, G; ... Muntoni, F; + view all (2014) Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. JAMA Neurology , 71 (1) 32 - 40. 10.1001/jamaneurol.2013.4908. Green open access
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Anthony, K; Arechavala-Gomeza, V; Taylor, LE; Vulin, A; Kaminoh, Y; Torelli, S; Feng, L; ... Muntoni, F; + view all (2014) Dystrophin quantification: Biological and translational research implications. Neurology , 83 (22) 2062 - 2069. 10.1212/WNL.0000000000001025. Green open access
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Foley, AR; Pitceathly, RD; He, J; Kim, J; Pearson, NM; Muntoni, F; Hanna, MG; (2014) Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2013-306264. Green open access
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Logan, CV; Szabadkai, G; Sharpe, JA; Parry, DA; Torelli, S; Childs, AM; Kriek, M; ... Sheridan, E; + view all (2014) Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nature Genetics , 46 (2) pp. 188-193. 10.1038/ng.2851. Green open access
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Stevens, ESL; (2014) An Investigation of Alpha-Dystroglycan Glycosylation in the Dystroglycanopathies: Implications for Diagnosis, Therapy and the Study of Novel Causative Genes. Doctoral thesis , UCL (University College London).

2013

Burke, G; Hiscock, A; Klein, A; Niks, EH; Main, M; Manzur, AY; Ng, J; ... Robb, S; + view all (2013) Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders , 23 (2) 170 - 175. 10.1016/j.nmd.2012.11.004. Green open access
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Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; ... Muntoni, F; + view all (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/brain/aws312. Green open access
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Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; ... Houlden, H; + view all (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315. Green open access
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Garralda, ME; McConachie, H; Le Couteur, A; Sriranjan, S; Chakrabarti, I; Cirak, S; Guglieri, M; ... Muntoni, F; + view all (2013) Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev , 39 (3) 449 - 455. 10.1111/j.1365-2214.2012.01387.x. Green open access
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McCormack, P; Woods, S; Aartsma-Rus, A; Hagger, L; Herczegfalvi, A; Heslop, E; Irwin, J; ... Ferlini, A; + view all (2013) Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr , 5 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec. Green open access
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Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; (2013) Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy. PLoS One , 8 (4) , Article e62114. 10.1371/journal.pone.0062114. Green open access
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Stevens, E; Torelli, S; Feng, L; Phadke, R; Walter, MC; Schneiderat, P; Eddaoudi, A; ... Muntoni, F; + view all (2013) Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS One , 8 (7) , Article e68958. 10.1371/journal.pone.0068958. Green open access
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Zaharieva, IT; Calissano, M; Scoto, M; Preston, M; Cirak, S; Feng, L; Collins, J; ... Muntoni, F; + view all (2013) Dystromirs as serum biomarkers for monitoring the disease severity in duchenne muscular dystrophy. PLoS One , 8 (11) , Article e80263. 10.1371/journal.pone.0080263. Green open access
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Zhou, H; Rokach, O; Feng, L; Munteanu, I; Mamchaoui, K; Wilmshurst, JM; Sewry, C; ... Muntoni, F; + view all (2013) RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling. Human Mutation , 34 (7) pp. 986-996. 10.1002/humu.22326. Green open access
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2012

Adkin, CF; Meloni, PL; Fletcher, S; Adams, AM; Muntoni, F; Wong, B; Wilton, SD; (2012) Multiple exon skipping strategies to by-pass dystrophin mutations. Neuromuscular Disorders , 22 (4) 297 - 305. 10.1016/j.nmd.2011.10.007. Green open access
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Arechavala-Gomeza, V; Anthony, K; Morgan, J; Muntoni, F; (2012) Antisense Oligonucleotide-Mediated Exon Skipping for Duchenne Muscular Dystrophy: Progress and Challenges. Current Gene Therapy , 12 (3) pp. 152-160. 10.2174/156652312800840621. Green open access
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Arechavala-Gomeza, V; Feng, L; Morgan, JE; Muntoni, F; (2012) Correspondence: Measuring dystrophin-faster is not necessarily better. [Letter]. Nature Reviews Neurology , 8 (8) 469 -470. 10.1038/nrneurol.2012.15-c1. Green open access
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Kim, J; Jimenez-Mallebrera, C; Foley, AR; Fernandez-Fuente, M; Brown, SC; Torelli, S; Feng, L; ... Muntoni, F; + view all (2012) Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscular Disorders , 22 (2) 139 - 148. 10.1016/j.nmd.2011.08.006. Green open access
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2011

Meng, JH; Adkin, CF; Xu, SW; Muntoni, F; Morgan, JE; (2011) Contribution of Human Muscle-Derived Cells to Skeletal Muscle Regeneration in Dystrophic Host Mice. PLOS ONE , 6 (3) , Article e17454. 10.1371/journal.pone.0017454. Green open access
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Owen, N; Zhou, HY; Malygin, AA; Sangha, J; Smith, LD; Muntoni, F; Eperon, IC; (2011) Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Research , 39 (16) 7194- 7208. 10.1093/nar/gkr152. Green open access
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2010

Arechavala-Gomeza, V; Kinali, M; Feng, L; Brown, SC; Sewry, C; Morgan, JE; Muntoni, F; (2010) Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. NEUROPATH APPL NEURO , 36 (4) 265 - 274. 10.1111/j.1365-2990.2009.01056.x. Green open access
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Arechavala-Gomeza, V; Kinali, M; Feng, L; Guglieri, M; Edge, G; Main, M; Hunt, D; ... Muntoni, F; + view all (2010) Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials. Neuromuscular Disorders , 20 (5) 295 - 301. 10.1016/j.nmd.2010.03.007. Green open access
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Brockington, M; Torelli, S; Sharp, PS; Liu, K; Cirak, S; Brown, SC; Wells, DJ; (2010) Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle. PLOS ONE , 5 (12) , Article e14434. 10.1371/journal.pone.0014434. Green open access
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Walmsley, GL; Arechavala-Gomeza, V; Fernandez-Fuente, M; Burke, MM; Nagel, N; Holder, A; Stanley, R; ... Piercy, RJ; + view all (2010) A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping. PLOS ONE , 5 (1) , Article e8647. 10.1371/journal.pone.0008647. Green open access
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2008

Bovolenta, M; Neri, M; Fini, S; Fabris, M; Trabanelli, C; Venturoli, A; Martoni, E; ... Ferlini, A; + view all (2008) A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC GENOMICS , 9 , Article 572. 10.1186/1471-2164-9-572. Green open access
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2007

Arechavala-Gomeza, V; Graham, IR; Popplewell, LJ; Adams, AM; Aartsma-Rus, A; Kinali, M; Morgan, JE; ... Muntoni, F; + view all (2007) Comparative analysis of antisense oligonucleotide sequences for targeted skipping of Exon 51 during dystrophin Pre-mRNA splicing in human muscle. Human Gene Therapy , 18 (9) 798 - 810. 10.1089/hum.2006.061. Green open access
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This list was generated on Sun Apr 14 03:50:07 2024 BST.