145 related articles for article (PubMed ID: 15505184)
1. Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Verny C; Ravisé N; Leutenegger AL; Pouplard F; Dubourg O; Tardieu S; Dubas F; Brice A; Genin E; LeGuern E
Neurology; 2004 Oct; 63(8):1527-9. PubMed ID: 15505184
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Azzedine H; Bolino A; Taïeb T; Birouk N; Di Duca M; Bouhouche A; Benamou S; Mrabet A; Hammadouche T; Chkili T; Gouider R; Ravazzolo R; Brice A; Laporte J; LeGuern E
Am J Hum Genet; 2003 May; 72(5):1141-53. PubMed ID: 12687498
[TBL] [Abstract][Full Text] [Related]
4. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
Holmberg BH; Holmgren G; Nelis E; van Broeckhoven C; Westerberg B
J Med Genet; 1994 Jun; 31(6):435-41. PubMed ID: 8071969
[TBL] [Abstract][Full Text] [Related]
5. [Molecular genetics of Charcot-Marie-Tooth disease].
Zhang YZ; Zhong N
Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):100-5. PubMed ID: 15719054
[TBL] [Abstract][Full Text] [Related]
6. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
Chaouch M; Allal Y; De Sandre-Giovannoli A; Vallat JM; Amer-el-Khedoud A; Kassouri N; Chaouch A; Sindou P; Hammadouche T; Tazir M; Lévy N; Grid D
Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
[TBL] [Abstract][Full Text] [Related]
7. Inflammatory demyelination in a patient with CMT1A.
Vital A; Vital C; Lagueny A; Ferrer X; Ribière-Bachelier C; Latour P; Petry KG
Muscle Nerve; 2003 Sep; 28(3):373-6. PubMed ID: 12929199
[TBL] [Abstract][Full Text] [Related]
8. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Züchner S; Vorgerd M; Sindern E; Schröder JM
Neuromuscul Disord; 2004 Feb; 14(2):147-57. PubMed ID: 14733962
[TBL] [Abstract][Full Text] [Related]
9. Increased severity over generations of Charcot-Marie-Tooth disease type 1A.
Steiner I; Gotkine M; Steiner-Birmanns B; Biran I; Silverstein S; Abeliovich D; Argov Z; Wirguin I
J Neurol; 2008 Jun; 255(6):813-9. PubMed ID: 18438698
[TBL] [Abstract][Full Text] [Related]
10. Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.
Hertz JM; Børglum AD; Brandt CA; Flint T; Bisgaard C
Clin Genet; 1994 Oct; 46(4):291-4. PubMed ID: 7834893
[TBL] [Abstract][Full Text] [Related]
11. De novo mutation of Charcot-Marie-Tooth disease type 1A.
Tachi N; Kozuka N; Ohya K; Chiba S
Pediatr Neurol; 1997 Jul; 17(1):67-9. PubMed ID: 9308980
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
Moroni I; Morbin M; Milani M; Ciano C; Bugiani M; Pagliano E; Cavallaro T; Pareyson D; Taroni F
Neuromuscul Disord; 2009 Jul; 19(7):476-80. PubMed ID: 19500985
[TBL] [Abstract][Full Text] [Related]
13. Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).
Neusch C; Senderek J; Eggermann T; Elolff E; Bähr M; Schneider-Gold C
Eur J Neurol; 2007 May; 14(5):575-7. PubMed ID: 17437620
[TBL] [Abstract][Full Text] [Related]
14. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
Houlden H; Laura M; Ginsberg L; Jungbluth H; Robb SA; Blake J; Robinson S; King RH; Reilly MM
Neuromuscul Disord; 2009 Apr; 19(4):264-9. PubMed ID: 19272779
[TBL] [Abstract][Full Text] [Related]
15. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Nelis E; Erdem S; Tan E; Löfgren A; Ceuterick C; De Jonghe P; Van Broeckhoven C; Timmerman V; Topaloglu H
Neuromuscul Disord; 2002 Nov; 12(9):869-73. PubMed ID: 12398840
[TBL] [Abstract][Full Text] [Related]
16. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
Gabreëls-Festen A; van Beersum S; Eshuis L; LeGuern E; Gabreëls F; van Engelen B; Mariman E
J Neurol Neurosurg Psychiatry; 1999 May; 66(5):569-74. PubMed ID: 10209165
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Senderek J; Bergmann C; Weber S; Ketelsen UP; Schorle H; Rudnik-Schöneborn S; Büttner R; Buchheim E; Zerres K
Hum Mol Genet; 2003 Feb; 12(3):349-56. PubMed ID: 12554688
[TBL] [Abstract][Full Text] [Related]
19. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
Kessali M; Zemmouri R; Guilbot A; Maisonobe T; Brice A; LeGuern E; Grid D
Neurology; 1997 Apr; 48(4):867-73. PubMed ID: 9109869
[TBL] [Abstract][Full Text] [Related]
20. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Bolino A; Muglia M; Conforti FL; LeGuern E; Salih MA; Georgiou DM; Christodoulou K; Hausmanowa-Petrusewicz I; Mandich P; Schenone A; Gambardella A; Bono F; Quattrone A; Devoto M; Monaco AP
Nat Genet; 2000 May; 25(1):17-9. PubMed ID: 10802647
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
