216 related articles for article (PubMed ID: 25337607)
1. 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]
2. 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]
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. 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]
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. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A; Birouk N; Azzedine H; Benomar A; Durosier G; Ente D; Muriel MP; Ruberg M; Slassi I; Yahyaoui M; Dubourg O; Ouazzani R; LeGuern E
Brain; 2007 Apr; 130(Pt 4):1062-75. PubMed ID: 17347251
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
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. 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]
13. 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]
14. 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]
15. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Birouk N; Azzedine H; Dubourg O; Muriel MP; Benomar A; Hamadouche T; Maisonobe T; Ouazzani R; Brice A; Yahyaoui M; Chkili T; Le Guern E
Arch Neurol; 2003 Apr; 60(4):598-604. PubMed ID: 12707075
[TBL] [Abstract][Full Text] [Related]
16. Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.
Kabzinska D; Drac H; Rowinska-Marcinska K; Fidzianska A; Kochanski A; Hausmanowa-Petrusewicz I
Acta Myol; 2006 Jun; 25(1):34-7. PubMed ID: 17039978
[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. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
Kabzińska D; Kochański A; Drac H; Rowińska-Marcińska K; Ryniewicz B; Pedrola L; Palau F; Hausmanowa-Petrusewicz I
J Neurol Sci; 2006 Feb; 241(1-2):7-11. PubMed ID: 16343542
[TBL] [Abstract][Full Text] [Related]
19. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Martin AM; Maradei SJ; Velasco HM
Colomb Med (Cali); 2015 Dec; 46(4):194-8. PubMed ID: 26848201
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
