241 related articles for article (PubMed ID: 31179332)
21. Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report.
Ortiz-Santiago A; Ramos E
J Pediatr Rehabil Med; 2021; 14(3):533-537. PubMed ID: 34057104
[TBL] [Abstract][Full Text] [Related]
22. Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
Chung KW; Hyun YS; Lee HJ; Jung HK; Koo H; Yoo JH; Kim SB; Park CI; Kim HN; Choi BO
J Peripher Nerv Syst; 2011 Jun; 16(2):143-6. PubMed ID: 21692914
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E; Erdem S; Van Den Bergh PY; Belpaire-Dethiou MC; Ceuterick C; Van Gerwen V; Cuesta A; Pedrola L; Palau F; Gabreëls-Festen AA; Verellen C; Tan E; Demirci M; Van Broeckhoven C; De Jonghe P; Topaloglu H; Timmerman V
Neurology; 2002 Dec; 59(12):1865-72. PubMed ID: 12499475
[TBL] [Abstract][Full Text] [Related]
26. Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Auer-Grumbach M; Fischer C; Papić L; John E; Plecko B; Bittner RE; Bernert G; Pieber TR; Miltenberger G; Schwarz R; Windpassinger C; Grill F; Timmerman V; Speicher MR; Janecke AR
Neuropediatrics; 2008 Feb; 39(1):33-8. PubMed ID: 18504680
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.
Jiang H; Guo C; Xie J; Pan J; Huang Y; Li M; Guo Y
BMC Neurol; 2021 Mar; 21(1):96. PubMed ID: 33653295
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. [Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy].
Liu C; Yan Y; Zhao J; Ha L; Xu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov; 37(11):1244-1246. PubMed ID: 33179230
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. [Analysis of
Qin L; Yang C; Lü T; Li L; Zong D; Wu Y
Nan Fang Yi Ke Da Xue Xue Bao; 2019 Jan; 39(1):63-68. PubMed ID: 30692068
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Azzedine H; Ruberg M; Ente D; Gilardeau C; Périé S; Wechsler B; Brice A; LeGuern E; Dubourg O
Neuromuscul Disord; 2003 May; 13(4):341-6. PubMed ID: 12868504
[TBL] [Abstract][Full Text] [Related]
35. Phenotype of Charcot-Marie-Tooth disease Type 2.
Bienfait HM; Baas F; Koelman JH; de Haan RJ; van Engelen BG; Gabreëls-Festen AA; Ongerboer de Visser BW; Meggouh F; Weterman MA; De Jonghe P; Timmerman V; de Visser M
Neurology; 2007 May; 68(20):1658-67. PubMed ID: 17502546
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
Kabzińska D; Kochański A; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
Neuropediatrics; 2005 Jun; 36(3):206-9. PubMed ID: 15944907
[TBL] [Abstract][Full Text] [Related]
40. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
Sevilla T; Jaijo T; Nauffal D; Collado D; Chumillas MJ; Vilchez JJ; Muelas N; Bataller L; Domenech R; Espinós C; Palau F
Brain; 2008 Nov; 131(Pt 11):3051-61. PubMed ID: 18812441
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
