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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

open access: closedCytology and Genetics, 2023
Mustafa Doğan   +4 more
openalex   +2 more sources

Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases

open access: closedNeuromuscular Disorders, 1997
José M. Fernández   +8 more
openalex   +2 more sources

Affected muscle fibers in Nonaka myopathy with endoplasmic reticulum stress

open access: closed, 2012
Juanjuan Chen   +3 more
openalex   +1 more source
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Immune-mediated necrotizing myopathy: clinical features and pathogenesis

Nature Reviews Rheumatology, 2020
Yves Allenbach   +2 more
exaly  

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