178 related articles for article (PubMed ID: 26231298)
1. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova T; Guergueltcheva V; Gospodinova M; Krause S; Cirak S; Kaprelyan A; Angelova L; Mihaylova V; Bichev S; Chandler D; Naydenov E; Grudkova M; Djukmedzhiev P; Voit T; Pogoryelova O; Lochmüller H; Goebel HH; Bahlo M; Kalaydjieva L; Tournev I
Neuromuscul Disord; 2015 Sep; 25(9):713-8. PubMed ID: 26231298
[TBL] [Abstract][Full Text] [Related]
2. A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene.
Khadilkar SV; Nallamilli BRR; Bhutada A; Hegde M; Gandhi K; Faldu HD; Patil SB
J Neurol Sci; 2017 Apr; 375():239-240. PubMed ID: 28320138
[No Abstract] [Full Text] [Related]
3. 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]
4. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
Mori-Yoshimura M; Monma K; Suzuki N; Aoki M; Kumamoto T; Tanaka K; Tomimitsu H; Nakano S; Sonoo M; Shimizu J; Sugie K; Nakamura H; Oya Y; Hayashi YK; Malicdan MC; Noguchi S; Murata M; Nishino I
J Neurol Sci; 2012 Jul; 318(1-2):100-5. PubMed ID: 22507750
[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. 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]
7. 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]
8. Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O; Cammish P; Mansbach H; Argov Z; Nishino I; Skrinar A; Chan Y; Nafissi S; Shamshiri H; Kakkis E; Lochmüller H
Neuromuscul Disord; 2018 Feb; 28(2):158-168. PubMed ID: 29305133
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
Sim JE; Park HJ; Shin HY; Nam TS; Kim SM; Choi YC
Yonsei Med J; 2013 May; 54(3):578-82. PubMed ID: 23549799
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Xu X; Wang AQ; Latham LL; Celeste F; Ciccone C; Malicdan MC; Goldspiel B; Terse P; Cradock J; Yang N; Yorke S; McKew JC; Gahl WA; Huizing M; Carrillo N
Mol Genet Metab; 2017 Sep; 122(1-2):126-134. PubMed ID: 28641925
[TBL] [Abstract][Full Text] [Related]
13. Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.
Bhattacharya S; Khadilkar SV; Nalini A; Ganapathy A; Mannan AU; Majumder PP; Bhattacharya A
J Neuromuscul Dis; 2018; 5(1):85-92. PubMed ID: 29480215
[TBL] [Abstract][Full Text] [Related]
14. Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A; Nafissi S; Qurashi A; Tan Z; Shamshiri H; Nilipour Y; Haghighi A; Desnick RJ; Kornreich R
Eur J Hum Genet; 2016 Feb; 24(2):243-51. PubMed ID: 25966635
[TBL] [Abstract][Full Text] [Related]
15. Early and consistent pattern of proximal weakness in GNE myopathy.
Khadilkar SV; Chaudhari AD; Singla MB; Dastur RS; Gaitonde PS; Bhutada AG; Hegde MR
Muscle Nerve; 2021 Feb; 63(2):199-203. PubMed ID: 33197058
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. GNE myopathy in India.
Nalini A; Gayathri N; Nishino I; Hayashi YK
Neurol India; 2013; 61(4):371-4. PubMed ID: 24005727
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
Kim BJ; Ki CS; Kim JW; Sung DH; Choi YC; Kim SH
J Hum Genet; 2006; 51(2):137-140. PubMed ID: 16372135
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
