Browse by UCL people
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).
|
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.
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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).
|
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).
|
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).
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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).
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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).
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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).
|
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.
|
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.
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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.
|
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.
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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.
|
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.
|
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.
|
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.
|
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.
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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.
|
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.
|
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.
|
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).
|
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.
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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.
|
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).
|
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).
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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).
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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).
|
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.
|
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.
|
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.
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