177 related articles for article (PubMed ID: 24264357)
1. Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.
Tal-Goldberg T; Lorain S; Mitrani-Rosenbaum S
Neuromolecular Med; 2014 Jun; 16(2):322-31. PubMed ID: 24264357
[TBL] [Abstract][Full Text] [Related]
2. Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
Khademian H; Mehravar E; Urtizberea J; Sagoo S; Sandoval L; Carbajo R; Darvish B; Valles-Ayoub Y; Darvish D
Clin Genet; 2013 Dec; 84(6):589-92. PubMed ID: 23278550
[TBL] [Abstract][Full Text] [Related]
3. Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Sela I; Yakovlev L; Becker Cohen M; Elbaz M; Yanay N; Ben Shlomo U; Yotvat H; Fellig Y; Argov Z; Mitrani-Rosenbaum S
Neuromolecular Med; 2013 Mar; 15(1):180-91. PubMed ID: 23238814
[TBL] [Abstract][Full Text] [Related]
4. Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
Wu Y; Yuan L; Guo Y; Lu A; Zheng W; Xu H; Yang Y; Hu P; Gu S; Wang B; Deng H
J Cell Mol Med; 2018 Nov; 22(11):5533-5538. PubMed ID: 30160005
[TBL] [Abstract][Full Text] [Related]
5. [GNE myopathy].
Urtizberea JA; Béhin A
Med Sci (Paris); 2015 Nov; 31 Spec No 3():20-7. PubMed ID: 26546927
[TBL] [Abstract][Full Text] [Related]
6. Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery.
Mitrani-Rosenbaum S; Yakovlev L; Becker Cohen M; Telem M; Elbaz M; Yanay N; Yotvat H; Ben Shlomo U; Harazi A; Fellig Y; Argov Z; Sela I
Neuromuscul Disord; 2012 Nov; 22(11):1015-24. PubMed ID: 22633753
[TBL] [Abstract][Full Text] [Related]
7. Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
Paccalet T; Coulombe Z; Tremblay JP
PLoS One; 2010 Apr; 5(4):e10055. PubMed ID: 20383336
[TBL] [Abstract][Full Text] [Related]
8. Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
Yardeni T; Jacobs K; Niethamer TK; Ciccone C; Anikster Y; Kurochkina N; Gahl WA; Huizing M
Glycoconj J; 2013 Aug; 30(6):609-18. PubMed ID: 23266873
[TBL] [Abstract][Full Text] [Related]
9. Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
Weidemann W; Reinhardt A; Thate A; Horstkorte R
Neuromuscul Disord; 2011 Dec; 21(12):824-31. PubMed ID: 21873062
[TBL] [Abstract][Full Text] [Related]
10. Recessive
Tamanna N; Pi BK; Lee AJ; Kanwal S; Choi BO; Chung KW
Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674419
[TBL] [Abstract][Full Text] [Related]
11. GNE myopathy: current update and future therapy.
Nishino I; Carrillo-Carrasco N; Argov Z
J Neurol Neurosurg Psychiatry; 2015 Apr; 86(4):385-92. PubMed ID: 25002140
[TBL] [Abstract][Full Text] [Related]
12. GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y; Xi J; Zhu W; Lin J; Luo S; Yue D; Cai S; Sun C; Zhao C; Mitsuhashi S; Nishino I; Xu M; Lu J
J Hum Genet; 2019 Jan; 64(1):11-16. PubMed ID: 30390020
[TBL] [Abstract][Full Text] [Related]
13. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
Hum Mol Genet; 2007 Nov; 16(22):2669-82. PubMed ID: 17704511
[TBL] [Abstract][Full Text] [Related]
14. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
Hum Mol Genet; 2007 Jan; 16(2):115-28. PubMed ID: 17164266
[TBL] [Abstract][Full Text] [Related]
15. Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV; Vilboux T; Ciccone C; de Dios JK; Malicdan MC; Leoyklang P; McKew JC; Gahl WA; Carrillo-Carrasco N; Huizing M
Hum Mutat; 2014 Aug; 35(8):915-26. PubMed ID: 24796702
[TBL] [Abstract][Full Text] [Related]
16. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
Galeano B; Klootwijk R; Manoli I; Sun M; Ciccone C; Darvish D; Starost MF; Zerfas PM; Hoffmann VJ; Hoogstraten-Miller S; Krasnewich DM; Gahl WA; Huizing M
J Clin Invest; 2007 Jun; 117(6):1585-94. PubMed ID: 17549255
[TBL] [Abstract][Full Text] [Related]
17. GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.
Zhu W; Eto M; Mitsuhashi S; Takata K; Beck G; Sumi-Akamaru H; Mochizuki H; Sakoda S; Takahashi MP; Nishino I
Neuromuscul Disord; 2018 Feb; 28(2):154-157. PubMed ID: 29307446
[TBL] [Abstract][Full Text] [Related]
18. Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A; Brennan KM; Hudson J; Longman C; McConville J; Morrison PJ; Farrugia ME; Petty R; Stewart W; Norwood F; Horvath R; Chinnery PF; Costigan D; Winer J; Polvikoski T; Healy E; Sarkozy A; Evangelista T; Pogoryelova O; Eagle M; Bushby K; Straub V; Lochmüller H
J Neurol Neurosurg Psychiatry; 2014 Dec; 85(12):1359-65. PubMed ID: 24695763
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
Liewluck T; Pho-Iam T; Limwongse C; Thongnoppakhun W; Boonyapisit K; Raksadawan N; Murayama K; Hayashi YK; Nishino I; Sangruchi T
Muscle Nerve; 2006 Dec; 34(6):775-8. PubMed ID: 16810679
[TBL] [Abstract][Full Text] [Related]
20. Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
Cho A; Hayashi YK; Monma K; Oya Y; Noguchi S; Nonaka I; Nishino I
J Neurol Neurosurg Psychiatry; 2014 Aug; 85(8):914-7. PubMed ID: 24027297
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]