Data from: Adult MTM1-related myopathy carriers: classification based on deep phenotyping

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关键词：

Neuromuscular Disorders;Homo Sapiens;Genetic Disorders;MTM1

DOI：

doi:10.5061/dryad.116n37m

摘要：

a the Congenital Muscle Disease International Registry (n=8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS

Data from: Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease

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关键词：

Clinical Neurology;Leukodystrophies;Neuromuscular Disease

DOI：

doi:10.5061/dryad.876r5m5

摘要：

An 18-year-old woman was referred to a neuromuscular clinic for neuropathy and tremors. She had been born full-term and had mildly delayed walking

Data from: Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

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关键词：

Facioscapulohumeral Muscular Dystrophy;Single muscle fiber;MRI;Neuromuscular Disease;Muscle disease

DOI：

doi:10.5061/dryad.04gq02h

摘要：

phy, one of the most common hereditary muscle disorders. Methods: we collected 26 vastus lateralis and 24 tibialis anterior muscle biopsies from 14

Data from: Neuromuscular adverse events associated with Anti-PD-1 monoclonal antibodies: systematic review

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关键词：

Immune checkpoint inhibitor;Myasthenia;Muscle disease;Autoimmune diseases;Peripheral neuropathy

DOI：

doi:10.5061/dryad.84q73s8

摘要：

of neuromuscular disorders (NMDs) in patients treated with nivolumab or pembrolizumab monotherapy or concurrent with other immunologic agents, such as ipilimumab. Sixty-one

Data from: Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies

负责人：

关键词：

Clinical Trials;Developmental disorders;pediatric;Neuromuscular Disease;Spinal muscular atrophy

DOI：

doi:10.5061/dryad.n37q406

摘要：

Objective: Report results of intrathecal nusinersen in children with later-onset spinal muscular atrophy (SMA). Methods: Analyses included children