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Author Details

Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
1985
818
107
PMIDPaper TitleJournal TitlePublished Year
35136951Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency.Brain2023
37919208261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.Neuromuscul Disord2023
37516995Neuromuscular disease genetics in under-represented populations: increasing data diversity.Brain2023
37691296Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.Ann Clin Transl Neurol2023
37643885Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related Myopathy.Neurology2023
37977713Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.Lancet Neurol2023
37926638269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy - What have we learned? 9-11 December 2022, Hoofddorp, The Netherlands.Neuromuscul Disord2023
37814063First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD.Nat Med2023
37460854Correction to: 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.J Neurol2023
37423006Psychological test usage in duchenne muscular dystrophy: An EU multi-centre study.Eur J Paediatr Neurol2023
36989620Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM).Stem Cell Res2023
37314712Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy.N Engl J Med2023
37284795Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain2023
37115359Safety 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.J Neurol2023
36980249Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models.Cells2023
37380432Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.Neurology2023
37078061Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in <i>mdx52</i> mice.Mol Ther Nucleic Acids2023
37337674Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.Brain2023
37166413Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7â¿¿years.J Peripher Nerv Syst2023
37099511Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.PLoS One2023
37265839MyoD-induced reprogramming of human fibroblasts and urinary stem cells <i>in vitro</i>: protocols and their applications.Front Physiol2023
37265148Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.Ann Clin Transl Neurol2023
36725339<i>DMD</i> Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials.Neurology2023
36445400Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain2023
36748295Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.J Peripher Nerv Syst2023
36401040Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.Methods Mol Biol2023
369027102-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.J Clin Med2023
36675332A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?J Clin Med2023
36634413A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.Neuromuscul Disord2023
36453228T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy.Hum Gene Ther2023
36203352Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.Ann Neurol2023
34740639Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Exp Cell Res2022
35844027X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.Acta Neuropathol2022
35654209Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy.Prog Neurobiol2022
35615709Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy.Mol Ther Methods Clin Dev2022
35584175Response of plasma microRNAs to nusinersen treatment in patients with SMA.Ann Clin Transl Neurol2022
35439255Development of a novel startle response task in Duchenne muscular dystrophy.PLoS One2022
35437095Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.Expert Opin Biol Ther2022
35396602Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.J Neurol2022
35396092Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls.Neuromuscul Disord2022
35426774Can Breathing Pattern Assessment Predict the Need of Ventilatory Support in Treated Infants with Spinal Muscular Atrophy Type 1?Am J Respir Crit Care Med2022
35757141Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.Front Pediatr2022
35694931INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.J Neuromuscul Dis2022
35715567Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.Nat Med2022
35715566Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.Nat Med2022
35484142Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.Nat Commun2022
35385138Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.Dev Med Child Neurol2022
36542615Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement.PLoS One2022
36418198CRISPR-mediated correction of skeletal muscle Ca<sup>2+</sup> handling in a novel DMD patient-derived pluripotent stem cell model.Neuromuscul Disord2022
35869884GGPS1-associated muscular dystrophy with and without hearing loss.Ann Clin Transl Neurol2022
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Collaborators

Kate Bushby
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Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 77
Richard S Finkel
Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital
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Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
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Anna Sarkozy
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Ros Quinlivan
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Boston Children's Hospital, Harvard Medical School
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Kevin P Campbell
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University of Colorado Anschutz Medical Campus
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Matthew E Hurles
Wellcome Sanger Institute
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Stephan Z??chner
Hussman Institute for Human Genomics, University of Miami
Co-authored papers 8
Francesco Cucca
University of Sassari
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Cristina Al-Khalili Szigyarto
KTH-Royal Institute of Technology
Co-authored papers 7
Kathryn J Swoboda
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 7
James M Polke
National Hospital for Neurology and Neurosurgery
Co-authored papers 7
Heather Gordish-Dressman
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Monkol Lek
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Shamima Rahman
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Daniel G MacArthur
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Release 1.2