Recent advances in establishing a cure for GNE myopathy-Reference-Cited by-同舟云学术

Recent advances in establishing a cure for GNE myopathy

Published:2022-08-11 Issue:5 Volume:35 Page:629-636
ISSN:1350-7540
Container-title:Current Opinion in Neurology
language:en
Short-container-title:

Author:

Yoshioka Wakako,Nishino Ichizo,Noguchi Satoru

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Neurology

Reference45 articles.

1. Advances in understanding of the natural history, mechanism, extra-muscular manifestations and treatment of GNE myopathy;Yoshioka;Neurol Clin Neurosci,2022

2. GNE myopathy: etiology, diagnosis, and therapeutic challenges;Carrillo;Neurotherapeutics,2018

3. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model;Malicdan;Nat Med,2009

4. Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice;Yonekawa;Brain,2014

5. Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders;Lochmüller;Orphanet J Rare Dis,2021

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1. Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study;Journal of Neurology, Neurosurgery & Psychiatry;2024-06-05

2. Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan;Journal of Neurology;2024-05-01

3. Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy;Genes;2024-04-11

4. GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation;Glycobiology;2024-01-15

5. Genome-wide CRISPR screen identifies GNE as a key host factor that promotes influenza A virus adsorption and endocytosis;Microbiology Spectrum;2023-12-12