Results 11 to 20 of about 1,200 (179)

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

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   +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

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

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

<i>GNE</i> genotype explains 20% of phenotypic variability in GNE myopathy. [PDF]

Neurol Genet, 2019
To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries.Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H.   +5 more
europepmc   +6 more sources

GNE myopathy: from clinics and genetics to pathology and research strategies [PDF]

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +4 more sources

Novel missense variants associated with GNE myopathy [PDF]

Neuromuscular Disorders
GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups. It is an autosomal recessive disease, caused by biallelic variants in GNE.
Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +4 more sources

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

J Clin Neurol, 2019
GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom of foot drop or hip-girdle weakness eventually spreads to all limbs over a period of decades.
Park YE, Kim DS, Choi YC, Shin JH.
europepmc   +6 more sources

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   +3 more sources