393 related articles for article (PubMed ID: 18492089)
1. 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]
2. 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]
3. 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]
4. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [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]
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. 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]
9. [Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM; Grid D; Magdelaine C; Sturtz F; Levy N; Tazir M
Bull Acad Natl Med; 2005 Jan; 189(1):55-68; discussion 68-9. PubMed ID: 16119880
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
Marco A; Cuesta A; Pedrola L; Palau F; Marín I
Mol Biol Evol; 2004 Jan; 21(1):176-87. PubMed ID: 14595091
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Azzedine H; Ravisé N; Verny C; Gabrëels-Festen A; Lammens M; Grid D; Vallat JM; Durosier G; Senderek J; Nouioua S; Hamadouche T; Bouhouche A; Guilbot A; Stendel C; Ruberg M; Brice A; Birouk N; Dubourg O; Tazir M; LeGuern E
Neurology; 2006 Aug; 67(4):602-6. PubMed ID: 16924012
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
Georgiou DM; Nicolaou P; Chitayat D; Koutsou P; Babul-Hirji R; Vajsar J; Murphy J; Christodoulou K
Can J Neurol Sci; 2006 Aug; 33(3):311-6. PubMed ID: 17001820
[TBL] [Abstract][Full Text] [Related]
20. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]