Results 11 to 20 of about 2,960 (158)

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance [PDF]

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +2 more sources

GNE myopathy: History, etiology, and treatment trials

Frontiers in Neurology, 2022
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Jeffrey Mullen, Khalid Alrasheed, Tahseen Mozaffar, Tahseen Mozaffar, Tahseen Mozaffar   +4 more
doaj   +3 more sources

Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances [PDF]

Annals of Indian Academy of Neurology
GNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decreased production
Wakako Yoshioka, Satoru Noguchi, Ichizo Nishino   +2 more
doaj   +2 more sources

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   +2 more sources

GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]

Molecular Genetics and Metabolism Reports
GNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj   +2 more sources

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study [PDF]

BMC Musculoskeletal Disorders
Introduction GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the ...
Jinliang Deng, Ning Wang, Yuhao Wu, Ziyan Hao, Hongran Wu, Shaojuan Ma, Juyi Liu, Guang Ji, Xueqin Song   +8 more
doaj   +2 more sources

Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. [PDF]

Exp Ther Med, 2018
Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing.
Su F, Miao J, Liu X, Wei X, Yu X.
europepmc   +4 more sources

Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report. [PDF]

Ann Rehabil Med, 2015
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression.
Choi YA, Park SH, Yi Y, Kim K.
europepmc   +4 more sources

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy

Neurogenetics
Abstract Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the GNE gene and characterized by progressive distal muscle weakness and atrophy. We report a novel variant in theGNE gene causing GM in a consanguineous Malian family. Case presentation: A 19-year-old male patient from a consanguineous family of
Guida Landouré, Landouré Guida, Yalcouyé Abdoulaye   +2 more
exaly   +4 more sources

Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression [PDF]

Case Reports in Neurology, 2012
We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with
Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Koji Abe   +7 more
doaj   +3 more sources