190 related articles for article (PubMed ID: 32183277)
1. Pathogenic Effect of
Rzepnikowska W; Kaminska J; Kabzińska D; Kochański A
Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32183277
[TBL] [Abstract][Full Text] [Related]
2. Mutations in
Binięda K; Rzepnikowska W; Kolakowski D; Kaminska J; Szczepankiewicz AA; Nieznańska H; Kochański A; Kabzińska D
Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33477664
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
Kabzińska D; Chabros K; Kamińska J; Kochański A
Genes (Basel); 2022 Aug; 13(9):. PubMed ID: 36140714
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.
González-Sánchez P; Satrústegui J; Palau F; Del Arco A
Int J Mol Sci; 2019 Jan; 20(2):. PubMed ID: 30669311
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
García-Sobrino T; Blanco-Arias P; Palau F; Espinós C; Ramirez L; Estela A; San Millán B; Arias M; Sobrido MJ; Pardo J
Neuromuscul Disord; 2017 Jul; 27(7):667-672. PubMed ID: 28236508
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
Estela A; Pla-Martín D; Sánchez-Piris M; Sesaki H; Palau F
J Biol Chem; 2011 Oct; 286(42):36777-86. PubMed ID: 21890626
[TBL] [Abstract][Full Text] [Related]
12. Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
Chen CX; Li JQ; Dong HL; Liu GL; Bai G; Wu ZY
Ann Clin Transl Neurol; 2020 Dec; 7(12):2381-2392. PubMed ID: 33136338
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
Xin B; Puffenberger E; Nye L; Wiznitzer M; Wang H
Clin Genet; 2008 Sep; 74(3):274-8. PubMed ID: 18492089
[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. 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]
16. Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
Pla-Martín D; Calpena E; Lupo V; Márquez C; Rivas E; Sivera R; Sevilla T; Palau F; Espinós C
Hum Mol Genet; 2015 Jan; 24(1):213-29. PubMed ID: 25168384
[TBL] [Abstract][Full Text] [Related]
17. Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A; Nguyen GTT; Raasakka A; Muruganandam G; Loris R; Ylikallio E; Tyynismaa H; Bartesaghi L; Ruskamo S; Kursula P
FEBS Open Bio; 2022 Jul; 12(7):1306-1324. PubMed ID: 35509130
[TBL] [Abstract][Full Text] [Related]
18. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Pedrola L; Espert A; Wu X; Claramunt R; Shy ME; Palau F
Hum Mol Genet; 2005 Apr; 14(8):1087-94. PubMed ID: 15772096
[TBL] [Abstract][Full Text] [Related]
19. L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Kabzińska D; Strugalska-Cynowska H; Kostera-Pruszczyk A; Ryniewicz B; Posmyk R; Midro A; Seeman P; Báranková L; Zimoń M; Baets J; Timmerman V; Guergueltcheva V; Tournev I; Sarafov S; De Jonghe P; Jordanova A; Hausmanowa-Petrusewicz I; Kochański A
Neurogenetics; 2010 Jul; 11(3):357-66. PubMed ID: 20232219
[TBL] [Abstract][Full Text] [Related]
20. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Cassereau J; Chevrollier A; Bonneau D; Verny C; Procaccio V; Reynier P; Ferré M
Orphanet J Rare Dis; 2011 Dec; 6():87. PubMed ID: 22200116
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]