603 related articles for article (PubMed ID: 12821518)
1. 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]
2. 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]
3. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. CMT4A: identification of a Hispanic GDAP1 founder mutation.
Boerkoel CF; Takashima H; Nakagawa M; Izumo S; Armstrong D; Butler I; Mancias P; Papasozomenos SC; Stern LZ; Lupski JR
Ann Neurol; 2003 Mar; 53(3):400-5. PubMed ID: 12601710
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
Tazir M; Azzedine H; Assami S; Sindou P; Nouioua S; Zemmouri R; Hamadouche T; Chaouch M; Feingold J; Vallat JM; Leguern E; Grid D
Brain; 2004 Jan; 127(Pt 1):154-63. PubMed ID: 14607793
[TBL] [Abstract][Full Text] [Related]
9. 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]
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. 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]
12. [Charcot-Marie-Tooth disease. Study of sural nerve biopsy in 41 patients].
Freitas MR; Nascimento OJ; Chimelli L; de Freitas GR
Arq Neuropsiquiatr; 1995 Sep; 53(3-B):560-9. PubMed ID: 8585811
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
Bird TD; Kraft GH; Lipe HP; Kenney KL; Sumi SM
Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
[TBL] [Abstract][Full Text] [Related]
16. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Chung KW; Kim SB; Park KD; Choi KG; Lee JH; Eun HW; Suh JS; Hwang JH; Kim WK; Seo BC; Kim SH; Son IH; Kim SM; Sunwoo IN; Choi BO
Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
