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Last Updated : 06/20/2022

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Found 15 publications

Daratumumab for treatment-refractory antibody-mediated diseases in neurology.

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

RYR1-related myopathies: Expanding the spectrum of morphological presentation.

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.

A case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: long-term observation of neurological symptoms after autologous stem-cell transplantation.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease.

The Diagnostic Yield of Electromyography at Detecting Abnormalities on Muscle Biopsy: A Single Center Experience.

Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.

Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.

Showing 1-12 of 15

Last Updated : 06/20/2022