Results 31 to 40 of about 26,442 (131)

Progression of GNE Myopathy Based on the Patient-Reported Outcome. [PDF]

J Clin Neurol, 2019
BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology.
Park YE, Kim DS, Choi YC, Shin JH.
europepmc   +2 more sources

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy [PDF]

Journal of Cellular and Molecular Medicine, 2018
Pengzhi Hu, Lamei Yuan, Bingqi Wang
exaly   +2 more sources

GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Journal of Applied Hematology, 2022
Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi   +6 more
doaj   +1 more source

A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG, Ya-qin LI, Hui-li ZHANG, Yu-ling ZHU, Ruo-jie HE, Huan LI, Jin-fu LIN, Cheng ZHANG   +7 more
doaj   +1 more source

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. [PDF]

J Neuromuscul Dis, 2021
BACKGROUND: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.
Lochmüller H, Behin A, Tournev I, Tarnopolsky M, Horváth R, Pogoryelova O, Shah J, Koutsoukos T, Skrinar A, Kakkis E, Bedrosian CL, Mozaffar T.   +11 more
europepmc   +3 more sources

Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных [PDF]

, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
А. Ф. Муртазина, G. E. Rudenskaya, A. F. Murtazina, Е. Л. Дадали, С. С. Никитин, S. S. Nikitin, Г. Е. Руденская, O. P. Ryzhkova, И. В. Шаркова, А. Л. Чухрова, I. V. Sharkova, E. L. Dadali, О. П. Рыжкова, A. L. Chukhrova   +13 more
core   +1 more source

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

, 2021
Background GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles.
조안나
core   +1 more source

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

Open Medicine, 2021
GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar   +4 more
doaj   +1 more source

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

, 2021
Patients with GNE myopathy, a progressive and debilitating disease caused by a genetic defect in sialic acid biosynthesis, rely on supportive care and eventually become wheelchair-bound.
조안나
core   +1 more source

GNE myopathy (Nonaka myopathy)

Анналы клинической и экспериментальной неврологии, 2019
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya, Alena L. Chukhrova, Oksana P. Ryzhkova   +2 more
doaj   +1 more source