349 related articles for article (PubMed ID: 20849849)
1. 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]
2. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
3. 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]
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, 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]
6. 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]
7. 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]
8. 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]
9. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
Noack R; Frede S; Albrecht P; Henke N; Pfeiffer A; Knoll K; Dehmel T; Meyer Zu Hörste G; Stettner M; Kieseier BC; Summer H; Golz S; Kochanski A; Wiedau-Pazos M; Arnold S; Lewerenz J; Methner A
Hum Mol Genet; 2012 Jan; 21(1):150-62. PubMed ID: 21965300
[TBL] [Abstract][Full Text] [Related]
10. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
Stojkovic T; Latour P; Viet G; de Seze J; Hurtevent JF; Vandenberghe A; Vermersch P
Neuromuscul Disord; 2004 Apr; 14(4):261-4. PubMed ID: 15019704
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
Niemann A; Wagner KM; Ruegg M; Suter U
Neurobiol Dis; 2009 Dec; 36(3):509-20. PubMed ID: 19782751
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
Berger P; Niemann A; Suter U
Glia; 2006 Sep; 54(4):243-57. PubMed ID: 16856148
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
Sevilla T; Cuesta A; Chumillas MJ; Mayordomo F; Pedrola L; Palau F; Vílchez JJ
Brain; 2003 Sep; 126(Pt 9):2023-33. PubMed ID: 12821518
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]