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Found 10 publications

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.

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

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

A case of sporadic late-onset nemaline myopathy associated with myasthenia gravis positive for anti-titin antibody and anti-Kv1.4 antibody.

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate.

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