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Data from: Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions
- 负责人：
- Burgess, Robert W.
- DOI：
- doi:10.5061/dryad.ng07t
- 摘要：
- Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degene
Nude man with lateral sclerosis walking
- 负责人：
- 关键词：
- Human locomotion Pictorial works Men Persons with disabilities Walking Amyotrophic lateral sclerosis Neuromuscular diseases
- DOI：
- doi:10.25549/rbm-m682
- 摘要：
- : an electro-photographic investigation of consecutive phases of animal movements. 1872-1885. USC Digital Library, 2010."; CITE ORIGINAL SOURCE AS "Eadwear
Data from: Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease
- 负责人：
- DOI：
- doi:10.5061/dryad.876r5m5
- 摘要：
- ) disease. Symptoms progressed over the next few years, characterized by tripping, occasional falls, and continued difficulty running. She could climb stairs
Data from: Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
- 负责人：
- 关键词：
- synaptic transmission;Neuromuscular Disease;congenital myasthenic syndrome;drosophila melanogaster
- DOI：
- doi:10.5061/dryad.st621
- 摘要：
- 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited
Data from: Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
- 负责人：
- DOI：
- doi:10.5061/dryad.g003051
- 摘要：
- ); and a positive correlation (Spearman-r=0.663; p<0.001) between dystrophin protein change from baseline, measured by western blot and immunohistochemistry.
Data from: Adult MTM1-related myopathy carriers: classification based on deep phenotyping
- 负责人：
- 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: Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD)
- 负责人：
- DOI：
- doi:10.5061/dryad.sh54526
- 摘要：
- y an important role in their disease burden. These symptoms have a variable prevalence and importance in the FSHD population and are associated with disease duration
Data from: Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy
- 负责人：
- 关键词：
- Facioscapulohumeral Muscular Dystrophy;Single muscle fiber;MRI;Neuromuscular Disease;Muscle disease
- DOI：
- doi:10.5061/dryad.04gq02h
- 摘要：
- s and myofilament cooperativity did not differ from healthy controls. Passive force was increased in all FSHD muscle fibers, resulting in increased fiber stiffnes
Data from: Neuromuscular adverse events associated with Anti-PD-1 monoclonal antibodies: systematic review
- 负责人：
- 关键词：
- Immune checkpoint inhibitor;Myasthenia;Muscle disease;Autoimmune diseases;Peripheral neuropathy
- DOI：
- doi:10.5061/dryad.84q73s8
- 摘要：
- Neuromuscular adverse events following cancer treatment with anti–programmed cell death protein 1 (PD-1) monoclonal antibodies are relatively rar
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：
- d in motor function improvements and disease activity stabilization not observed in natural history cohorts. These results document the long-term benefit of nusinerse
