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

Nervno-Myshechnye Bolezni - Russian Federation
doi 10.17650/2222-8721-2019-9-3-56-66
Full Text
Abstract

Available in full text

Categories
Neurology
Date
Authors
Publisher

Publishing House ABV Press

Related search

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics
NeurologyPharmacology
2018English

Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

Journal of Inherited Metabolic Disease
Genetics
2013English

Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

FEBS Journal
BiochemistryCell BiologyMolecular Biology
2016English

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Journal of Clinical Neuromuscular Disease
MedicineNeurology
2017English

Cystinosis Distal Myopathy, Novel Clinical, Pathological and Genetic Features

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2017English

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine
2016English

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

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2019English

A Rare Structural Myopathy: Nemaline Myopathy

Turk Pediatri Arsivi
Child HealthPediatricsPerinatology
2018English

Myopathy

2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy