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Publications by A. L. Chukhrova

Clinical and Genetic Characteristics of Nonaka Myopathy (GNE-myopathy) in Russian Patients

Nervno-Myshechnye Bolezni

English

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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

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Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

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Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

Molecular Biology

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Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Journal of Clinical Neuromuscular Disease

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Cystinosis Distal Myopathy, Novel Clinical, Pathological and Genetic Features

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GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

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Autosomal Recessive Bethlem Myopathy: A Clinical, Genetic and Functional Study

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A Rare Structural Myopathy: Nemaline Myopathy

Turk Pediatri Arsivi

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