Results 1 to 10 of about 1,926 (156)

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy [PDF]

Molecules
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults.
Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni   +9 more
doaj   +10 more sources

Different electrophysiology patterns in GNE myopathy [PDF]

Orphanet Journal of Rare Diseases, 2022
Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently.
Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu   +6 more
doaj   +4 more sources

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population [PDF]

Orphanet Journal of Rare Diseases
Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a
Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang   +9 more
doaj   +4 more sources

GNE myopathy: History, etiology, and treatment trials [PDF]

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   +4 more sources

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study [PDF]

BMJ Neurology Open, 2022
Background A number of clinical trials targeting GNE myopathy patients have been conducted. However, useful clinical parameters for postmarketing surveillance and long-term clinical observation have not yet been established.Objective We conducted a 5 ...
Yuji Takahashi, Ichizo Nishino, Madoka Mori-Yoshimura, Yasushi Oya, Satoru Noguchi, Hiroyuki Yajima, Katsuhiro Mizuno   +6 more
doaj   +4 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   +3 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   +4 more sources

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy [PDF]

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +5 more sources

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   +5 more sources

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. [PDF]

J Neuromuscul Dis
\ua9 2024 – The authors. Published by IOS Press.Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance.
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A.   +21 more
europepmc   +5 more sources