Works matching IS 22143599 AND DT 2024 AND VI 11
Results: 103
Abstracts of the 18th International Congress on Neuromuscular Diseases (ICNMD 2024).
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, p. S1, doi. 10.1177/22143602241290230
- Publication type:
- Article
Life expectancy and causes of death in patients with Myotonic Dystrophy Type 2.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1221, doi. 10.3233/JND-240089
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- Article
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 959, doi. 10.3233/JND-230130
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- Article
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 935, doi. 10.3233/JND-230021
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- Article
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 883, doi. 10.3233/JND-240022
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- Article
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 791, doi. 10.3233/JND-230251
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- Article
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 655, doi. 10.3233/JND-240007
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- Article
Serum neurofilament light chain levels in patients with small-fiber neuropathy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1268, doi. 10.3233/JND-240071
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- Article
An international retrospective early natural history study of LAMA2-related dystrophies.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1238, doi. 10.3233/JND-240048
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- Article
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1300, doi. 10.3233/JND-230196
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- Article
International collaboration to improve knowledge on myotonic dystrophy type 2.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1229, doi. 10.1177/22143602241290353
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- Publication type:
- Article
Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1276, doi. 10.1177/22143602241289705
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- Publication type:
- Article
Asymptomatic and oligosymptomatic states of dysferlinopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1283, doi. 10.1177/22143602241289227
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- Article
Gross motor delays in infants and young boys with Duchenne muscular dystrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1260, doi. 10.1177/22143602241289223
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- Article
Mutational and clinical spectrum of myofibrillar myopathy in one center from China.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1247, doi. 10.1177/22143602241289220
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- Article
MICU1 related myopathy – a rare report from India.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1295, doi. 10.1177/22143602241288400
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- Article
Newborn screening programs for spinal muscular atrophy worldwide in 2023.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1180, doi. 10.1177/22143602241288095
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- Publication type:
- Article
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1190, doi. 10.1177/22143602241288087
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- Publication type:
- Article
Peripheral defects precede neuromuscular pathology in the Smn<sup>2B/−</sup> mouse model of spinal muscular atrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1200, doi. 10.1177/22143602241288036
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- Publication type:
- Article
Current biomarkers in inclusion body myositis.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1165, doi. 10.1177/22143602241286712
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- Article
Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1211, doi. 10.1177/22143602241283391
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- Article
Erratum to: Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?
- Published in:
- 2024
- Publication type:
- Correction Notice
The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1123, doi. 10.3233/JND-240081
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- Publication type:
- Article
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1111, doi. 10.3233/JND-240068
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- Article
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1095, doi. 10.3233/JND-240061
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- Publication type:
- Article
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 905, doi. 10.3233/JND-240056
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- Publication type:
- Article
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 997, doi. 10.3233/JND-240053
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- Article
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1131, doi. 10.3233/JND-240050
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- Article
Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1085, doi. 10.3233/JND-240033
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- Article
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1067, doi. 10.3233/JND-240029
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- Article
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1021, doi. 10.3233/JND-240023
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- Publication type:
- Article
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1049, doi. 10.3233/JND-240004
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- Publication type:
- Article
Meeting Report: 2023 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Therapy of Neuromuscular Diseases'.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1139, doi. 10.3233/JND-240002
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- Publication type:
- Article
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 889, doi. 10.3233/JND-230248
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- Article
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1035, doi. 10.3233/JND-230236
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- Article
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1011, doi. 10.3233/JND-230235
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- Publication type:
- Article
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 919, doi. 10.3233/JND-230190
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- Publication type:
- Article
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 969, doi. 10.3233/JND-230172
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- Publication type:
- Article
Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 981, doi. 10.3233/JND-230139
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- Article
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 877, doi. 10.3233/JND-240021
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- Publication type:
- Article
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 735, doi. 10.3233/JND-240014
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- Publication type:
- Article
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 777, doi. 10.3233/JND-230182
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- Article
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 815, doi. 10.3233/JND-240006
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- Publication type:
- Article
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 767, doi. 10.3233/JND-240020
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- Publication type:
- Article
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 839, doi. 10.3233/JND-240017
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- Publication type:
- Article
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 749, doi. 10.3233/JND-230217
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- Publication type:
- Article
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND).
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 801, doi. 10.3233/JND-240012
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- Article
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 855, doi. 10.3233/JND-230085
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- Publication type:
- Article
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 871, doi. 10.3233/JND-230020
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- Publication type:
- Article
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 829, doi. 10.3233/JND-230241
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- Article