245 related articles for article (PubMed ID: 33187793)
1. Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.
Barreda Fierro R; Herrera Mora P; Zenteno JC; Villarroel Cortés CE
Neuromuscul Disord; 2020 Dec; 30(12):986-990. PubMed ID: 33187793
[TBL] [Abstract][Full Text] [Related]
2. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Vital A; Latour P; Sole G; Ferrer X; Rouanet M; Tison F; Vital C; Goizet C
Neuromuscul Disord; 2012 Aug; 22(8):735-41. PubMed ID: 22546700
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M; Hashiguchi A; Okamoto Y; Yoshimura A; Hiramatsu Y; Yuan J; Higuchi Y; Mitsui J; Ishiura H; Umemura A; Maruyama K; Matsushige T; Morishita S; Nakagawa M; Tsuji S; Takashima H
J Peripher Nerv Syst; 2017 Sep; 22(3):191-199. PubMed ID: 28660751
[TBL] [Abstract][Full Text] [Related]
4. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
5. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F; Stojkovic T; Dubourg O; Echaniz-Laguna A; Tardieu S; Larcher K; Amati-Bonneau P; Latour P; Vignal O; Cazeneuve C; Brice A; Leguern E
JAMA Neurol; 2014 Aug; 71(8):1036-42. PubMed ID: 24957169
[TBL] [Abstract][Full Text] [Related]
6. Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
Li Z; Zeng S; Xie Y; Li X; Huang S; Zhao H; Cao W; Liu L; Wang M; Gong Q; Liu J; Rong P; Zhang R
J Peripher Nerv Syst; 2024 Jun; 29(2):232-242. PubMed ID: 38705839
[TBL] [Abstract][Full Text] [Related]
7. Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Auranen M; Ylikallio E; Toppila J; Somer M; Kiuru-Enari S; Tyynismaa H
Neurogenetics; 2013 May; 14(2):123-32. PubMed ID: 23456260
[TBL] [Abstract][Full Text] [Related]
8. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Figueiredo FB; Silva WA; Giuliatti S; Tomaselli PJ; Lourenço CM; Gouvêa SP; Covaleski APPM; Hallak JE; Marques W
Neuromuscul Disord; 2021 Jun; 31(6):505-511. PubMed ID: 33903021
[TBL] [Abstract][Full Text] [Related]
9. Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A; Yuan JH; Hashiguchi A; Hiramatsu Y; Ando M; Higuchi Y; Nakamura T; Okamoto Y; Matsumura K; Hamano T; Sawaura N; Shimatani Y; Kumada S; Okumura Y; Miyahara J; Yamaguchi Y; Kitamura S; Haginoya K; Mitsui J; Ishiura H; Tsuji S; Takashima H
Clin Genet; 2017 Sep; 92(3):274-280. PubMed ID: 28244113
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.
Kostera-Pruszczyk A; Kosinska J; Pollak A; Stawinski P; Walczak A; Wasilewska K; Potulska-Chromik A; Szczudlik P; Kaminska A; Ploski R
J Peripher Nerv Syst; 2014 Sep; 19(3):242-5. PubMed ID: 25403865
[TBL] [Abstract][Full Text] [Related]
11. GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I; Geroldi A; Capponi S; Gulli R; Schenone A; Grandis M; Doria-Lamba L; La Piana C; Cremonte M; Pisciotta C; Nolano M; Manganelli F; Santoro L; Mandich P; Bellone E
Neuromuscul Disord; 2016 Jan; 26(1):26-32. PubMed ID: 26525999
[TBL] [Abstract][Full Text] [Related]
12. Homozygous Mutations in
Asif M; Chiou CC; Hussain MF; Hussain M; Sajid Z; Gulsher M; Raheem A; Khan A; Nasreen N; Kloczkowski A; Hassan M; Iqbal F; Chen CC
DNA Cell Biol; 2023 Nov; 42(11):697-708. PubMed ID: 37797217
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
Iapadre G; Morana G; Vari MS; Pinto F; Lanteri P; Tessa A; Santorelli FM; Striano P; Verrotti A
Eur J Paediatr Neurol; 2018 May; 22(3):563-567. PubMed ID: 29361379
[TBL] [Abstract][Full Text] [Related]
14. Novel
Mai PT; Le DT; Nguyen TT; Le Gia HL; Nguyen Le TH; Le M; Do DM
Biomed Res Int; 2019; 2019():7132494. PubMed ID: 31179332
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.
Pakhrin PS; Xie Y; Hu Z; Li X; Liu L; Huang S; Wang B; Yang Z; Zhang J; Liu X; Xia K; Tang B; Zhang R
J Neurol; 2018 Mar; 265(3):637-646. PubMed ID: 29372391
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
Tan CA; Rabideau M; Blevins A; Westbrook MJ; Ekstein T; Nykamp K; Deucher A; Harper A; Demmer L
Am J Med Genet A; 2016 Jun; 170(6):1580-4. PubMed ID: 26955893
[TBL] [Abstract][Full Text] [Related]
17. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
Saporta MA; Dang V; Volfson D; Zou B; Xie XS; Adebola A; Liem RK; Shy M; Dimos JT
Exp Neurol; 2015 Jan; 263():190-9. PubMed ID: 25448007
[TBL] [Abstract][Full Text] [Related]
18. MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations.
Nan H; Hata T; Fukao T; Fukao T; Chen W; Kurita T; Natori T; Takiyama Y
Intern Med; 2021 Dec; 60(24):3969-3974. PubMed ID: 34121014
[TBL] [Abstract][Full Text] [Related]
19. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294
[TBL] [Abstract][Full Text] [Related]
20. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Zimoń M; Baets J; Fabrizi GM; Jaakkola E; Kabzińska D; Pilch J; Schindler AB; Cornblath DR; Fischbeck KH; Auer-Grumbach M; Guelly C; Huber N; De Vriendt E; Timmerman V; Suter U; Hausmanowa-Petrusewicz I; Niemann A; Kochański A; De Jonghe P; Jordanova A
Neurology; 2011 Aug; 77(6):540-8. PubMed ID: 21753178
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
