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Number of items: 100.

A

Abdi, Suad S; De Haan, Michelle; Kirkham, Fenella J; (2023) Neuroimaging and Cognitive Function in Sickle Cell Disease: A Systematic Review. Children , 10 (3) , Article 532. 10.3390/children10030532. Green open access
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Abiramalatha, Thangaraj; Thanigainathan, Sivam; Ramaswamy, Viraraghavan Vadakkencherry; Pressler, Ronit; Brigo, Francesco; Hartmann, Hans; (2023) Anti-seizure medications for neonates with seizures. Cochrane Database of Systematic Reviews , 10 (10) , Article CD014967. 10.1002/14651858.CD014967.pub2.

Arfaie, Saman; Amin, Pouya; Kwan, Angela TH; Solgi, Arad; Sarabi, Ali; Hakak-Zargar, Benyamin; Brunette-Clément, Tristan; ... Fallah, Aria; + view all (2023) Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. Seizure , 106 pp. 58-67. 10.1016/j.seizure.2023.01.020. Green open access
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Ayoub, LJ; Zhu, J; Lee, SJ; Mugisha, N; Patel, K; Duerden, EG; Stinson, J; ... McAndrews, MP; + view all (2023) Age-related effects on the anterior and posterior hippocampal volumes in 6–21 year olds: A model selection approach. Hippocampus , 33 (1) pp. 37-46. 10.1002/hipo.23487.

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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B

Behrndt, Laken; Gregory, Allison; Wakeman, Katrina; Freed, Alison; Wilson, Jenny L; Spaull, Robert; Kurian, Manju A; ... Yang, Scott; + view all (2023) Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management. Journal of Pediatric Orthopaedics 10.1097/BPO.0000000000002555. (In press).

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.

Bonthrone, Alexandra F; Green, Dido; Morgan, Angela T; Mankad, Kshitij; Clark, Christopher A; Liégeois, Frédérique J; (2023) Attention and motor profiles in children with developmental coordination disorder: A neuropsychological and neuroimaging investigation. Developmental Medicine & Child Neurology 10.1111/dmcn.15745. (In press). Green open access
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Budinger, Dimitri; (2023) Elucidating the role of brain manganese in health and disease using a patient-derived neuronal model. Doctoral thesis (Ph.D), UCL (University College London).

Burgod, C; Mazlan, M; Pant, S; Krishnan, V; Garegrat, R; Montaldo, P; Muraleedharan, P; ... Thayyil, S; + view all (2023) Duration of birth depression and neurodevelopmental outcomes after whole-body hypothermia for hypoxic ischemic encephalopathy in India, Sri Lanka and Bangladesh – an exploratory analysis of the HELIX trial. The Lancet Regional Health - Southeast Asia , Article 100284. 10.1016/j.lansea.2023.100284. (In press). Green open access
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C

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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Carroll, Jennifer H; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Val; Collinson, Avril; (2023) A Core outcome set for childhood epilepsy treated with ketogenic diet therapy (CORE-KDT study): international parent and health professional consensus. Epilepsia 10.1111/epi.17513. (In press). Green open access
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Casey, Triona; Thachuthara, Aoife Jones; Fogarty, Leanna; Livingstone, Vicki; De Haan, Michelle; Marlow, Neil; Kiely, Mairead E; (2023) Validation of a touchscreen assessment tool to screen for cognitive delay at 24 months. Developmental Medicine & Child Neurology 10.1111/dmcn.15555. Green open access
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Chari, A; Sedlacik, J; Seunarine, K; Piper, RJ; Hales, P; Shmueli, K; Mankad, K; ... Carmichael, DW; + view all (2023) Epileptogenic Tubers Are Associated with Increased Kurtosis of Susceptibility Values: A Combined Quantitative Susceptibility Mapping and Stereoelectroencephalography Pilot Study. American Journal of Neuroradiology 10.3174/ajnr.A7929. (In press). Green open access
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Chari, Aswin; Adler, Sophie; Wagstyl, Konrad; Seunarine, Kiran; Tahir, M Zubair; Moeller, Friederike; Thornton, Rachel; ... Tisdall, Martin M; + view all (2023) Lesion detection in epilepsy surgery: Lessons from a prospective evaluation of a machine learning algorithm. Developmental Medicine & Child Neurology 10.1111/dmcn.15727. (In press). 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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D

D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; ... McTague, Amy; + view all (2023) Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology , 22 (9) pp. 812-825. 10.1016/S1474-4422(23)00246-6. Green open access
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Defelippe, Victoria M; J M W van Thiel, Ghislaine; Otte, Willem M; Schutgens, Roger EG; Stunnenberg, Bas; Cross, Helen J; O'Callaghan, Finbar; ... Braun, Kees PJ; + view all (2023) Toward responsible clinical n-of-1 strategies for rare diseases. Drug Discovery Today , 28 (10) , Article 103688. 10.1016/j.drudis.2023.103688. 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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Dunaway Young, S; McGrattan, K; Johnson, E; van der Heul, M; Duong, T; Bakke, M; Werlauff, U; ... Lofra, RM; + view all (2023) Development of an International SMA Bulbar Assessment for Inter-professional Administration. Journal of neuromuscular diseases , 10 (4) pp. 639-652. 10.3233/JND-221672. Green open access
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E

Elward, Rachael; Limond, Jennifer; Chareyron, Loïc J; Ethapemi, Janice; Vargha-Khadem, Faraneh; (2023) Using recognition testing to support semantic learning in developmental amnesia. Neuropsychological Rehabilitation pp. 1-20. 10.1080/09602011.2023.2275825. (In press). Green open access
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Eriksson, Maria H; Ripart, Mathilde; Piper, Rory J; Moeller, Friederike; Das, Krishna B; Eltze, Christin; Cooray, Gerald; ... Wagstyl, Konrad; + view all (2023) Predicting seizure outcome after epilepsy surgery: do we need more complex models, larger samples, or better data? Epilepsia 10.1111/epi.17637. (In press).

Eriksson, Maria H; Whitaker, Kirstie J; Booth, John; Piper, Rory J; Chari, Aswin; Martin Sanfilippo, Patricia; Caballero, Ana Perez; ... Baldeweg, Torsten; + view all (2023) Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes. Epilepsia 10.1111/epi.17670. (In press). Green open access
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F

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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Fan, Xue-Ru; Wang, Yin-Shan; Chang, Da; Yang, Ning; Rong, Meng-Jie; Zhang, Zhe; He, Ye; ... Zuo, Xi-Nian; + view all (2023) A longitudinal resource for population neuroscience of school-age children and adolescents in China. Scientific Data , 10 , Article 545. 10.1038/s41597-023-02377-8. 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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G

Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; ... Spoudeas, Helen Alexandra; + view all (2023) National UK guidelines for the management of paediatric craniopharyngioma. The Lancet Diabetes & Endocrinology , 11 (9) pp. 694-706. 10.1016/S2213-8587(23)00162-6.

Gogou, Maria; Pujar, Suresh; Nemani, Tarishi; Chiang, Chunyi; Simpson, Zoe; Hardy, Isobel; Schoeler, Natasha; ... Eltze, Christin; + view all (2023) Antiseizure medication reduction and withdrawal in children with drug-resistant epilepsy after starting the ketogenic diet. Developmental Medicine & Child Neurology , 65 (3) pp. 424-430. 10.1111/dmcn.15377. Green open access
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H

Hamdule, Shifa; Kirkham, Fenella J; (2023) Brain Volumes and Cognition in Patients with Sickle Cell Anaemia: A Systematic Review and Meta-Analysis. Children , 10 (8) , Article 1360. 10.3390/children10081360. Green open access
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Hamdule, Shifa; Kölbel, Melanie; Stotesbury, Hanne; Murdoch, Russell; Clayden, Jonathan D; Sahota, Sati; Hood, Anna Marie; ... Kirkham, Fenella Jane; + view all (2023) Effects of regional brain volumes on cognition in sickle cell anemia: A developmental perspective. Frontiers in Neurology , 14 , Article 1101223. 10.3389/fneur.2023.1101223. Green open access
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Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; ... Zech, Michael; + view all (2023) Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement Disorders 10.1002/mds.29562. Green open access
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Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; ... Blau, Nenad; + view all (2023) Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Molecular Genetics and Metabolism , 139 (3) , Article 107624. 10.1016/j.ymgme.2023.107624. Green open access
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J

Jain, Dipty; Kirkham, Fenella J; (2023) Laboratory Associations With Transcranial Doppler Categories in Sickle Cell Disease. Indian Pediatrics , 60 (8) pp. 622-623. 10.1007/s13312-023-2957-3.

Johnson, Emma C; Atkinson, Patricia; Muggeridge, Amy; Chan, Samantha; Helen Cross, J; Reilly, Colin; (2023) Perceived impact of epilepsy on sleep: Views of children with epilepsy, parents and school staff. Epilepsy and Behavior , 138 , Article 109026. 10.1016/j.yebeh.2022.109026.

K

Kadirvelu, Balasundaram; Gavriel, Constantinos; Nageshwaran, Sathiji; Chan, Jackson Ping Kei; Nethisinghe, Suran; Athanasopoulos, Stavros; Ricotti, Valeria; ... Faisal, A Aldo; + view all (2023) A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia. Nature Medicine , 29 (1) pp. 86-94. 10.1038/s41591-022-02159-6. Green open access
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Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; ... Maroofian, Reza; + view all (2023) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain 10.1093/brain/awad380. (In press). Green open access
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Kelleher, Stephanie C; Kirkham, Fenella J; Hood, Anna M; (2023) Executive Function and Processing Speed in Children Living with Sickle Cell Anemia. Children , 10 (10) , Article 1585. 10.3390/children10101585. Green open access
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Khamis, Sonia; Mitakidou, Maria R; Champion, Michael; Goyal, Sushma; Jones, Rachel L; Siddiqui, Ata; Sabanathan, Saraswathy; ... Papandreou, Apostolos; + view all (2023) Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy. Neurology , 100 (1) pp. 30-37. 10.1212/WNL.0000000000201385. Green open access
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Kirkham, Fenella J; Clayden, Jonathan D; Stotesbury, Hanne; Kawadler, Jamie M; Slee, April; Koelbel, Melanie; Saunders, Dawn E; ... Clark, Chris A; + view all (2023) Structural connectivity mediates the relationship between blood oxygenation and cognitive function in sickle cell anemia. Blood Advances , 7 (11) pp. 2297-2308. 10.1182/bloodadvances.2021006751. Green open access
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Koelbel, Melanie; Hamdule, Shifa; Kirkham, Fenella J; Stotesbury, Hanne; Hood, Anna Marie; Dimitriou, Dagmara; (2023) Mind the gap: trajectory of cognitive development in young individuals with sickle cell disease: a cross-sectional study. Frontiers in Neurology , 14 , Article 1087054. 10.3389/fneur.2023.1087054. Green open access
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Koens, Lisette H; Klamer, Marrit R; Sival, Deborah A; Balint, Bettina; Bhatia, Kailash P; Contarino, Maria Fiorella; van Egmond, Martje E; ... Tijssen, Marina AJ; + view all (2023) A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism. Movement Disorders 10.1002/mds.29332. (In press). Green open access
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L

Lu, S; Champion, H; Mills, N; Simpson, Z; Whiteley, VJ; Schoeler, NE; (2023) Impact of ketogenic diet therapy on growth in children with epilepsy. Epilepsy Research , 190 , Article 107076. 10.1016/j.eplepsyres.2023.107076.

M

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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Maurer, Constance; Boleti, Olga; Najarzadeh Torbati, Paria; Norouzi, Farzaneh; Fowler, Anna Nicole Rebekah; Minaee, Shima; Salih, Khalid Hama; ... Jamshidi, Yalda; + view all (2023) Genetic Insights from Consanguineous Cardiomyopathy Families. Genes , 14 (1) , Article 182. 10.3390/genes14010182. 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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Mikellides, G; Michael, P; Psalta, L; Stefani, A; Schuhmann, T; Sack, AT; (2023) Accelerated intermittent theta burst stimulation in smoking cessation: No differences between active and placebo stimulation when using advanced placebo coil technology. A double-blind follow-up study. International Journal of Clinical and Health Psychology , 23 (2) , Article 100351. 10.1016/j.ijchp.2022.100351. Green open access
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Montagnese, Federica; de Valle, Katy; Lemmers, Richard JLF; Mul, Karlien; Dumonceaux, Julie; Voermans, Nicol; (2023) 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials. Neuromuscular Disorders , 33 (5) pp. 447-462. 10.1016/j.nmd.2023.04.005.

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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N

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).

Ng, Joanne; Barral, Serena; Waddington, Simon N; Kurian, Manju A; (2023) Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches. Cells , 12 (13) , Article 1737. 10.3390/cells12131737. Green open access
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Ng, Joanne; Barral, Serena; Waddington, Simon N; Kurian, Manju A; (2023) Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases. Movement Disorders 10.1002/mds.29416. (In press). Green open access
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O

O'Connor, Graeme; Edel, Lisa; Raquq, Sarah; Bowerman, Melissa; Szmurlo, Agnieszka; Simpson, Zoe; Hardy, Isobel; ... Baranello, Giovanni; + view all (2023) Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study. Nutrition in Clinical Practice 10.1002/ncp.10940. (In press).

Osborne, John P; Edwards, Stuart W; Alber, Fabienne Dietrich; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Likeman, Marcus; ... O'Callaghan, FinbarJ K; + view all (2023) Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials. European Journal of Paediatric Neurology , 42 pp. 110-116. 10.1016/j.ejpn.2022.12.007. Green open access
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Oskoui, Maryam; Day, John W; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Saito, Kayoko; Vuillerot, Carole; ... SUNFISH Working Group; + view all (2023) Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology 10.1007/s00415-023-11560-1. (In press). Green open access
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P

Papandreou, Apostolos; Luft, Christin; Barral, Serena; Kriston-Vizi, Janos; Kurian, Manju A; Ketteler, Robin; (2023) Automated High-Content Imaging in iPSC-derived Neuronal Progenitors. SLAS Discovery 10.1016/j.slasd.2022.12.002. (In press). Green open access
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Pavel, Andreea M; O'Toole, John M; Proietti, Jacopo; Livingstone, Vicki; Mitra, Subhabrata; Marnane, William P; Finder, Mikael; ... ANSeR Consortium, .; + view all (2023) Machine learning for the early prediction of infants with electrographic seizures in neonatal hypoxic-ischaemic encephalopathy. Epilepsia , 64 (2) pp. 456-468. 10.1111/epi.17468. Green open access
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Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; ... Beniczky, S; + view all (2023) Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Epilepsia , 64 (3) pp. 602-618. 10.1111/epi.17448.

Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; ... Beniczky, S; + view all (2023) Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Clinical Neurophysiology , 147 pp. 108-120. 10.1016/j.clinph.2023.01.002.

Perry, Luke; Stimpson, Georgia; Singh, Leeha; Morrow, Jasper M; Shah, Sachit; Baranello, Giovanni; Muntoni, Francesco; (2023) Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Ann Clin Transl Neurol 10.1002/acn3.51816. Green open access
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Piper, Rory J; Dasgupta, Debayan; Eriksson, Maria H; Ripart, Mathilde; Moosa, Almira; Chari, Aswin; Seunarine, Kiran K; ... Baldeweg, Torsten; + view all (2023) Extent of piriform cortex resection in children with temporal lobe epilepsy. Annals of Clinical and Translational Neurology 10.1002/acn3.51852. (In press). Green open access
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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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Pressler, Ronit M; Abend, Nicholas S; Auvin, Stéphan; Boylan, Geraldine; Brigo, Francesco; Cilio, Maria Roberta; De Vries, Linda S; ... Hartmann, Hans; + view all (2023) Treatment of seizures in the neonate: Guidelines and consensus-based recommendations—Special report from the ILAE Task Force on Neonatal Seizures. Epilepsia pp. 1-21. 10.1111/epi.17745. (In press). Green open access
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Pringsheim, Tamara; Batla, Amit; Shalash, Ali; Sahu, Jitendra Kumar; Cosentino, Carlos; Ebrahimi‐Fakhari, Darius; Friedman, Jennifer; ... Roze, Emmanuel; + view all (2023) Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Movement Disorders Clinical Practice 10.1002/mdc3.13728. (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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R

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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Reid, Kimberley M; Sanchez-Nieto, Juan Miguel; Terrasse, Sandra; Faccenda, Danilo; Pernaute, Barbara; Campanella, Michelangelo; Rodriguez, Tristan A; (2023) MicroRNAs Regulate Ca2+ Homeostasis in Murine Embryonic Stem Cells. Cells , 12 (15) , Article 1957. 10.3390/cells12151957. Green open access
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Ricotti, Valeria; Kadirvelu, Balasundaram; Selby, Victoria; Festenstein, Richard; Mercuri, Eugenio; Voit, Thomas; Faisal, A Aldo; (2023) Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. Nature Medicine , 29 (1) pp. 95-103. 10.1038/s41591-022-02045-1. Green open access
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Rossi, Rachele; Johansson, Camilla; Heywood, Wendy; Vinette, Heloise; Jensen, Gabriella; Tegel, Hanna; Jiménez-Requena, Albert; ... Ferlini, Alessandra; + view all (2023) A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring. International Journal of Molecular Sciences , 24 (6) , Article 5215. 10.3390/ijms24065215. 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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Roth, Charlotte; Kilpinen, Helena; Kurian, Manju A; Barral, Serena; (2023) Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies. Frontiers in Cell and Developmental Biology , 11 , Article 1090046. 10.3389/fcell.2023.1090046. Green open access
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Roubertie, Agathe; Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Flint, Lisa; Willemsen, Michel A; Leuzzi, Vincenzo; ... Pearson, Toni S; + view all (2023) Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up. Journal of Inherited Metabolic Disease 10.1002/jimd.12649. (In press). Green open access
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S

Saenz, A; Piper, RJ; Thompson, D; Tahir, MZ; (2023) Endoscopic third ventriculostomy for the management of children with cerebrospinal fluid disorders, ventriculomegaly, and associated Chiari I malformation. World Neurosurgery: X , 19 , Article 100200. 10.1016/j.wnsx.2023.100200. 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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Saoudi, Amel; Fergus, Claire; Gileadi, Talia; Montanaro, Federica; Morgan, Jennifer E; Kelly, Vincent P; Tensorer, Thomas; ... Goyenvalle, Aurélie; + view all (2023) Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models. Cells , 12 (6) , Article 908. 10.3390/cells12060908. Green open access
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Shell, RD; McGrattan, KE; Hurst-Davis, R; Young, SD; Baranello, G; Lavrov, A; O'Brien, E; ... Darras, BT; + view all (2023) Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial. Neuromuscular Disorders 10.1016/j.nmd.2023.06.005. (In press). Green open access
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Silva, AHD; Habermann, S; Craven, CL; Bhagawati, D; O’Hare, P; Jorgensen, M; Dahl, C; ... Aquilina, K; + view all (2023) Atypical teratoid rhabdoid tumours (ATRTs)—a 21-year institutional experience. Child's Nervous System 10.1007/s00381-023-05828-0.

Sorger, Clarissa; (2023) Exploring Structural Brain Differences in Adolescents with Chronic Neuropathic Pain. Doctoral thesis (Ph.D), UCL (University College London).

Steel, DBD; Danti, FR; Abunada, M; Kamien, B; Malhotra, S; Topf, M; Kaliakatsos, M; ... Kurian, MA; + view all (2023) Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Neurology , 100 (21) e2214-e2223. 10.1212/WNL.0000000000207241. Green open access
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Steel, Dora Batia Dyne; (2023) Whole-genome sequencing in early-onset movement disorders: diagnosis, discovery, and deepening understanding of rare conditions. Doctoral thesis (Ph.D), UCL (University College London).

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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T

Taquet, Maxime; Devinsky, Orrin; Cross, J Helen; Harrison, Paul J; Sen, Arjune; (2023) Incidence of Epilepsy and Seizures Over the First 6 Months After a COVID-19 Diagnosis: A Retrospective Cohort Study. Neurology , 100 (8) e790-e799. 10.1212/WNL.0000000000201595. Green open access
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Thayyil, S; Montaldo, P; Krishnan, V; Ivain, P; Pant, S; Lally, PJ; Bandiya, P; ... Shankaran, S; + view all (2023) Whole-Body Hypothermia, Cerebral Magnetic Resonance Biomarkers, and Outcomes in Neonates With Moderate or Severe Hypoxic-Ischemic Encephalopathy Born at Tertiary Care Centers vs Other Facilities: A Nested Study Within a Randomized Clinical Trial. Jama Network Open , 6 (5) , Article e2312152. 10.1001/jamanetworkopen.2023.12152. Green open access
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Themistocleous, Andreas C; Baskozos, Georgios; Blesneac, Iulia; Comini, Maddalena; Megy, Karyn; Chong, Sam; Deevi, Sri VV; ... Bennett, David LH; + view all (2023) Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain Commun , 5 (2) , Article fcad037. 10.1093/braincomms/fcad037. Green open access
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V

Vasilica, AM; Winsor, A; Chari, A; Scott, R; Baldeweg, T; Tisdall, M; (2023) The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis. Epilepsy Research , 192 , Article 107132. 10.1016/j.eplepsyres.2023.107132. (In press). Green open access
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Ventura, Soraia; Mathieson, Sean R; O'Sullivan, Marc P; O'Toole, John M; Livingstone, Vicki; Pressler, Ronit M; Dempsey, Eugene M; ... Boylan, Geraldine B; + view all (2023) Parent-led massage and sleep EEG for term-born infants: A randomized controlled parallel-group study. Developmental Medicine & Child Neurology (DMCN) 10.1111/dmcn.15565. (In press). Green open access
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Veyckemans, Francis; Sola, Chrystelle; De Graaff, Jurgen C; Becke-Jakob, Karin; Zielinska, Marzena; Hansen, Tom G; Walker, Suellen M; ... Habre, Walid; + view all (2023) Short scientific report: epidemiology and outcomes of inguinal surgery with or without regional anaesthesia in neonates and small infants A subanalysis of the NECTARINE database. European Journal of Anaesthesiology (EJA) 10.1097/eja.0000000000001870. (In press).

W

Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; (2023) Fetal gene therapy. Journal of Inherited Metabolic Disease 10.1002/jimd.12659. (In press).

Walger, Lennart; Adler, Sophie; Wagstyl, Konrad; Henschel, Leonie; David, Bastian; Borger, Valeri; Hattingen, Elke; ... Rüber, Theodor; + view all (2023) Artificial Intelligence for the Detection of Focal Cortical Dysplasia: Challenges in Translating Algorithms into Clinical Practice. Epilepsia , 64 (5) pp. 1093-1112. 10.1111/epi.17522. Green open access
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Walker, Elise J; Kirkham, Fenella J; Stotesbury, Hanne; Dimitriou, Dagmara; Hood, Anna M; (2023) Tele-neuropsychological Assessment of Children and Young People: A Systematic Review. Journal of Pediatric Neuropsychology 10.1007/s40817-023-00144-6. (In press). Green open access
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Walker, Suellen M; Peters, Judy; Verriotis, Madeleine; Farag, Fadila; Jay, Matthew A; Howard, Richard F; (2023) Sensitivity and specificity of a neuropathic screening tool (Self-report Leeds Assessment of Neuropathic Symptoms and Signs, S-LANSS) in adolescents with moderate-severe chronic pain. The Journal of Pain 10.1016/j.jpain.2023.09.006. (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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Wright, A; Booth, R; (2023) Neuropsychological profiles of children with agenesis of the corpus callosum: A scoping review. Developmental Medicine and Child Neurology , 65 (9) pp. 1141-1149. 10.1111/dmcn.15532. 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.

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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X

Xu, Y; Moulding, D; Jin, W; Beggs, S; (2023) Microglial phagocytosis mediates long-term restructuring of spinal GABAergic circuits following early life injury. Brain, Behavior, and Immunity , 111 pp. 127-137. 10.1016/j.bbi.2023.04.001. Green open access
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Y

Yozawitz, Elissa G; Cilio, Maria R; Mizrahi, Eli M; Moon, Jee-Young; Moshé, Solomon L; Nunes, Magda L; Plouin, Perrine; ... Pressler, Ronit M; + view all (2023) Application of the International League Against Epilepsy Neonatal Seizure Framework to an international panel of medical personnel. Epileptic Disorders , 25 (2) pp. 123-130. 10.1002/epd2.20005.

This list was generated on Mon Nov 27 01:40:46 2023 GMT.