212 related articles for article (PubMed ID: 37058526)
1. Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.
Sutinen A; Paffenholz D; Nguyen GTT; Ruskamo S; Torda AE; Kursula P
PLoS One; 2023; 18(4):e0284532. PubMed ID: 37058526
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J; Chevrollier A; Gueguen N; Desquiret V; Verny C; Nicolas G; Dubas F; Amati-Bonneau P; Reynier P; Bonneau D; Procaccio V
Exp Neurol; 2011 Jan; 227(1):31-41. PubMed ID: 20849849
[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. A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
Kabzińska D; Niemann A; Drac H; Huber N; Potulska-Chromik A; Hausmanowa-Petrusewicz I; Suter U; Kochański A
Neurogenetics; 2011 May; 12(2):145-53. PubMed ID: 21365284
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D; Saveri P; Sagnelli A; Piscosquito G
Neurosci Lett; 2015 Jun; 596():66-77. PubMed ID: 25847151
[TBL] [Abstract][Full Text] [Related]
9. Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
Fu J; Dai S; Lu Y; Wu R; Wang Z; Yuan Y; Lv H
Neuromuscul Disord; 2017 Aug; 27(8):760-765. PubMed ID: 28495047
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
Barneo-Muñoz M; Juárez P; Civera-Tregón A; Yndriago L; Pla-Martin D; Zenker J; Cuevas-Martín C; Estela A; Sánchez-Aragó M; Forteza-Vila J; Cuezva JM; Chrast R; Palau F
PLoS Genet; 2015 Apr; 11(4):e1005115. PubMed ID: 25860513
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Kabzińska D; Kotruchow K; Cegielska J; Hausmanowa-Petrusewicz I; Kochański A
Acta Biochim Pol; 2014; 61(4):739-44. PubMed ID: 25337607
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Masingue M; Perrot J; Carlier RY; Piguet-Lacroix G; Latour P; Stojkovic T
Neurogenetics; 2018 May; 19(2):67-76. PubMed ID: 29396836
[TBL] [Abstract][Full Text] [Related]
16. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
Chung KW; Kim SM; Sunwoo IN; Cho SY; Hwang SJ; Kim J; Kang SH; Park KD; Choi KG; Choi IS; Choi BO
J Hum Genet; 2008; 53(4):360-364. PubMed ID: 18231710
[TBL] [Abstract][Full Text] [Related]
17. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
18. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
Sivera R; Espinós C; Vílchez JJ; Mas F; Martínez-Rubio D; Chumillas MJ; Mayordomo F; Muelas N; Bataller L; Palau F; Sevilla T
J Peripher Nerv Syst; 2010 Dec; 15(4):334-44. PubMed ID: 21199105
[TBL] [Abstract][Full Text] [Related]
19. Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report.
Rodriguez-Hernandez A; Mayo M; Jauregui L; Patel P
Front Neurol; 2022; 13():905725. PubMed ID: 36353131
[TBL] [Abstract][Full Text] [Related]
20. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
Crimella C; Tonelli A; Airoldi G; Baschirotto C; D'Angelo MG; Bonato S; Losito L; Trabacca A; Bresolin N; Bassi MT
J Med Genet; 2010 Oct; 47(10):712-6. PubMed ID: 20685671
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]