Results 11 to 20 of about 2,519,227 (189)

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   +3 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   +2 more sources

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj   +3 more sources

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]

Journal of Human Genetics, 2005
Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is an autosomal recessive neuromuscular disorder characterized by weakness of the anterior compartment of the lower limbs, sparing the quadriceps muscles. Recently, mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene have been identified as the genetic basis ...
Byoung Joon, Kim, Chang-Seok, Ki, Jong-Won, Kim, Duk Hyun, Sung, Young-Chul, Choi, Seung Hyun, Kim   +5 more
openaire   +5 more sources

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2) [PDF]

Gene Regulation and Systems Biology, 2008
Hereditary Inclusion Body Myopathy (HIBM2) is a chronic progressive skeletal muscle wasting disorder which generally leads to complete disability before the age of 50 years. There is currently no effective therapeutic treatment for HIBM2. Development of this disease is related to expression in family members of an autosomal recessive mutation of the ...
Chris, Jay, Gregory, Nemunaitis, John, Nemunaitis, Neil, Senzer, Stephan, Hinderlich, Daniel, Darvish, Julie, Ogden, John, Eager, Alex, Tong, Phillip B, Maples   +9 more
openaire   +3 more sources

Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study [PDF]

Molecular Genetics and Metabolism Reports
Congenital disorders of glycosylation (CDGs) are rare metabolic diseases characterized by clinical heterogeneity, yet the molecular basis for their tissue-specific manifestations remains poorly understood.
Cátia J. Neves, António Gomes, Rita A. Lourenço, Mariana Barbosa, Ana R. Grosso, Paula A. Videira   +5 more
doaj   +2 more sources

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

Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report [PDF]

Case Reports in Neurology
Introduction: GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure
Dipta Chandra Kuri, Sadeka Afrin Losy, Mohammad Sadekur Rahman Sarkar, Md. Badrul Alam Mondal   +3 more
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

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 Landoure, Seybou H DIALLO, Cheick O Guinto   +2 more
exaly   +4 more sources