3.0(top 20%)
impact factor
782(top 20%)
papers
10.9K(top 20%)
citations
47(top 20%)
h-index
3.1(top 20%)
extended IF
931
all documents
12.8K
doc citations
74(top 20%)
g-index

Top Articles

#TitleJournalYearCitations
1The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the LiteratureJournal of Neuromuscular Diseases2015275
2Current Classification and Management of Inflammatory MyopathiesJournal of Neuromuscular Diseases2018246
3Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for CareJournal of Neuromuscular Diseases2020192
4Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn ScreeningJournal of Neuromuscular Diseases2018182
5Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational StudyJournal of Neuromuscular Diseases2019173
6Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical TrialsJournal of Neuromuscular Diseases2016163
7Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseJournal of Neuromuscular Diseases2017162
8AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History CohortJournal of Neuromuscular Diseases2019155
9Gene Therapy for Duchenne Muscular DystrophyJournal of Neuromuscular Diseases2021154
10Increasing Role of Titin Mutations in Neuromuscular DisordersJournal of Neuromuscular Diseases2016145
11One Year of Newborn Screening for SMA – Results of a German Pilot ProjectJournal of Neuromuscular Diseases2019140
12Anti-HMGCR MyopathyJournal of Neuromuscular Diseases2018134
13Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in GermanyJournal of Neuromuscular Diseases2018122
14Molecular Mechanisms of Skeletal Muscle HypertrophyJournal of Neuromuscular Diseases2021121
15Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2Journal of Neuromuscular Diseases2020119
16Characterization of the Contribution of Genetic Background and Gender to Disease Progression in the SOD1 G93A Mouse Model of Amyotrophic Lateral Sclerosis: A Meta-AnalysisJournal of Neuromuscular Diseases2015106
17Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal MusclesJournal of Neuromuscular Diseases201699
18A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with CardiomyopathyJournal of Neuromuscular Diseases201594
19The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesJournal of Neuromuscular Diseases201592
20Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI TrialJournal of Neuromuscular Diseases202191
21Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular DystrophyJournal of Neuromuscular Diseases201989
22Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular DystrophyJournal of Neuromuscular Diseases201588
23Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular DisordersJournal of Neuromuscular Diseases201888
24Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionJournal of Neuromuscular Diseases201484
25Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing TherapyJournal of Neuromuscular Diseases201784
26Exon-Skipping in Duchenne Muscular DystrophyJournal of Neuromuscular Diseases202183
27Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An OverviewJournal of Neuromuscular Diseases201580
28Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 PatientsJournal of Neuromuscular Diseases201680
29Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic AreaJournal of Neuromuscular Diseases201577
30A Systematic Review and Meta-Analysis of Prevalence Studies of Sporadic Inclusion Body MyositisJournal of Neuromuscular Diseases201772
31Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular DystrophyJournal of Neuromuscular Diseases202168
32Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy TrialsJournal of Neuromuscular Diseases202268
33European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent DifferencesJournal of Neuromuscular Diseases201664
34Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre ExperienceJournal of Neuromuscular Diseases202161
35Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural HistoryJournal of Neuromuscular Diseases201859
36Advancements in AAV-mediated Gene Therapy for Pompe DiseaseJournal of Neuromuscular Diseases202059
37Sarcomere Dysfunction in Nemaline MyopathyJournal of Neuromuscular Diseases201758
38Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular MechanismJournal of Neuromuscular Diseases201557
39Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular AtrophyJournal of Neuromuscular Diseases202057
40Compliance to Care Guidelines for Duchenne Muscular DystrophyJournal of Neuromuscular Diseases201556
41Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease – A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRIJournal of Neuromuscular Diseases201956
42Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1Journal of Neuromuscular Diseases202056
43Comparison of Experimental Protocols of Physical Exercise for mdx Mice and Duchenne Muscular Dystrophy PatientsJournal of Neuromuscular Diseases201555
44Current View of Diagnosing Small Fiber NeuropathyJournal of Neuromuscular Diseases202154
45Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 SkippingJournal of Neuromuscular Diseases201453
46Current Translational Research and Murine Models For Duchenne Muscular DystrophyJournal of Neuromuscular Diseases201653
47Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification MethodologyJournal of Neuromuscular Diseases201953
48Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular DystrophyJournal of Neuromuscular Diseases202253
49Clinical Presentation, Diagnosis and Treatment of TTR AmyloidosisJournal of Neuromuscular Diseases201952
50Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting ReportJournal of Neuromuscular Diseases202051