280 related articles for article (PubMed ID: 21692914)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Cuesta A; Pedrola L; Sevilla T; García-Planells J; Chumillas MJ; Mayordomo F; LeGuern E; Marín I; Vílchez JJ; Palau F
Nat Genet; 2002 Jan; 30(1):22-5. PubMed ID: 11743580
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
Zhang RX; Tang BS; Zi XH; Luo W; Xia K; Pan Q; Long ZG; Hu ZM; Li XB
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):207-10. PubMed ID: 15192818
[TBL] [Abstract][Full Text] [Related]
10. Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
Rougeot C; Chabrier S; Camdessanche JP; Prieur F; d'Anjou MC; Latour P
Neuropediatrics; 2008 Jun; 39(3):184-7. PubMed ID: 18991200
[TBL] [Abstract][Full Text] [Related]
11. GDAP1 mutations in Czech families with early-onset CMT.
Baránková L; Vyhnálková E; Züchner S; Mazanec R; Sakmaryová I; Vondrácek P; Merlini L; Bojar M; Nelis E; De Jonghe P; Seeman P
Neuromuscul Disord; 2007 Jun; 17(6):482-9. PubMed ID: 17433678
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Baxter RV; Ben Othmane K; Rochelle JM; Stajich JE; Hulette C; Dew-Knight S; Hentati F; Ben Hamida M; Bel S; Stenger JE; Gilbert JR; Pericak-Vance MA; Vance JM
Nat Genet; 2002 Jan; 30(1):21-2. PubMed ID: 11743579
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
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. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
