Results 181 to 190 of about 15,103 (215)

A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene

Journal of the Neurological Sciences, 2017
Satish V, Khadilkar, Babi Ramesh Reddy, Nallamilli, Ashish, Bhutada, Madhuri, Hegde, Khanjan, Gandhi, Hinaben Dayalal, Faldu, Sarika Bapuso, Patil   +6 more
openaire   +4 more sources

Tissue-specific isoform expression of GNE gene in human tissues

Journal of Muscle Research and Cell Motility, 2022
Mutations in the sialic acid biosynthesis enzyme GNE lead to a late-onset, debilitating neuromuscular disorder, GNE myopathy, characterized by progressive skeletal muscle weakness. The mechanisms responsible for skeletal muscle specificity, late-onset, and disease progression are unknown.
Kapila Awasthi, Sudha Bhattacharya, Alok Bhattacharya   +2 more
openaire   +2 more sources

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

Journal of Neurology, Neurosurgery & Psychiatry, 2013
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. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
openaire   +2 more sources

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

Neurology, 2002
The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles.
H, Tomimitsu, K, Ishikawa, J, Shimizu, N, Ohkoshi, I, Kanazawa, H, Mizusawa   +5 more
openaire   +2 more sources

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees

Annals of Neurology, 2002
AbstractDistal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles. The UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) gene was recently identified as the ...
Aki, Arai, Keiko, Tanaka, Takeshi, Ikeuchi, Shuichi, Igarashi, Hisashi, Kobayashi, Tomoya, Asaka, Hidetoshi, Date, Masaaki, Saito, Hajime, Tanaka, Sari, Kawasaki, Eiichiro, Uyama, Hidehiro, Mizusawa, Nobuyoshi, Fukuhara, Shoji, Tsuji   +13 more
openaire   +2 more sources

Late‐onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

Muscle & Nerve, 2005
AbstractWe report two brothers from a Japanese family with a late‐onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded.
Naoki, Suzuki, Masashi, Aoki, Hideki, Mizuno, Yoshiaki, Onodera, Toshiaki, Takahashi, Tetsuya, Nagata, Maki, Tateyama, Yasuto, Itoyama   +7 more
openaire   +2 more sources

Novel missense mutation and large deletion of GNE gene in autosomal‐recessive inclusion‐body myopathy

Muscle & Nerve, 2003
AbstractThe UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene is the causative gene for autosomal‐recessive hereditary inclusion‐body myopathy (h‐IBM). Two sisters affected with autosomal‐recessive h‐IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1—9, and a R162C amino ...
Roberto, Del Bo, Pierluigi, Baron, Alessandro, Prelle, Massimo, Serafini, Maurizio, Moggio, Alessio Di, Fonzo, Marina, Castagni, Nereo, Bresolin, Giacomo Pietro, Comi   +8 more
openaire   +2 more sources

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

Neuromuscular Disorders, 2005
Autosomal recessive hereditary inclusion body myopathy (AR-HIBM), with sparing of the quadriceps, is characterized by adult-onset, with weakness and atrophy of distal lower limb muscles, and typical histopathological findings in muscle biopsy. AR hIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase ...
R, Amouri, A, Driss, K, Murayama, M, Kefi, I, Nishino, F, Hentati   +5 more
openaire   +2 more sources

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Muscle & Nerve, 2006
AbstractDistal myopathy with rimmed vacuoles (DMRV) is an early‐adult‐onset, distal myopathy caused by a mutation of the UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N)
Teerin, Liewluck, Theeraphong, Pho-Iam, Chanin, Limwongse, Wanna, Thongnoppakhun, Kanokwan, Boonyapisit, Natte, Raksadawan, Kumiko, Murayama, Yukiko K, Hayashi, Ichizo, Nishino, Tumtip, Sangruchi   +9 more
openaire   +2 more sources

GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITHOUT GNE MYOPATHY

Molecular Genetics and Metabolism, 2022
Jessica M. Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William A. Gahl, Francis Rossignol   +6 more
openaire   +1 more source