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Nicholas S. Marinakis

Boston Children's Hospital

5

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Expanding the Phenotype Associated With the NEFL Mutation: Neuromuscular Disease in a Family With Overlapping Myopathic and Neurogenic Findings

2014 JAMA Neurology
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A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

2014 European Journal of Human Genetics
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P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy

2013 Neuromuscular Disorders
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Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

2013 Blood
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Citations (21)