182 related articles for article (PubMed ID: 35138478)
1. Clinical, genetic, and pathological characterization of GNE myopathy in China.
Lv XQ; Xu L; Lin PF; Yan CZ
Neurol Sci; 2022 Jul; 43(7):4483-4491. PubMed ID: 35138478
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Gene analysis and clinical features of 22 GNE myopathy patients.
Guo X; Zhao Z; Shen H; Bing Q; Li N; Chen J; Hu J
Neurol Sci; 2022 Aug; 43(8):5049-5056. PubMed ID: 35438352
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
Chu CC; Kuo HC; Yeh TH; Ro LS; Chen SR; Huang CC
Clin Neurol Neurosurg; 2007 Apr; 109(3):250-6. PubMed ID: 17098358
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J; Wang Z; Hong D; Lv H; Zhang W; Chen J; Yuan Y
J Neurol Sci; 2015 Jul; 354(1-2):21-6. PubMed ID: 25986339
[TBL] [Abstract][Full Text] [Related]
12. Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Broccolini A; Gidaro T; Tasca G; Morosetti R; Rodolico C; Ricci E; Mirabella M
Neurology; 2010 Jul; 75(3):265-72. PubMed ID: 20644153
[TBL] [Abstract][Full Text] [Related]
13. Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study.
Carpenter EL; Lau HA; Kolodny EH; Adler RS
Radiology; 2015 Nov; 277(2):546-54. PubMed ID: 26035587
[TBL] [Abstract][Full Text] [Related]
14. Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.
Zhang KY; Duan HQ; Li QX; Luo YB; Bi FF; Huang K; Yang H
J Cell Mol Med; 2021 Nov; 25(22):10494-10503. PubMed ID: 34676965
[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. 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]
17. 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]
18. GNE myopathy in a Chinese male with a novel homozygous mutation.
Rui B; Chuanqiang P; Huifang W; Huaxu L; Qiang S; Miaomiao W; Haiwen S
J Clin Neurosci; 2017 May; 39():68-72. PubMed ID: 28284578
[TBL] [Abstract][Full Text] [Related]
19. NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
Ricci E; Broccolini A; Gidaro T; Morosetti R; Gliubizzi C; Frusciante R; Di Lella GM; Tonali PA; Mirabella M
Neurology; 2006 Mar; 66(5):755-8. PubMed ID: 16534119
[TBL] [Abstract][Full Text] [Related]
20. Muscle imaging findings in GNE myopathy.
Tasca G; Ricci E; Monforte M; Laschena F; Ottaviani P; Rodolico C; Barca E; Silvestri G; Iannaccone E; Mirabella M; Broccolini A
J Neurol; 2012 Jul; 259(7):1358-65. PubMed ID: 22231866
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
