461 related articles for article (PubMed ID: 10841809)
21. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Marrosu MG; Vaccargiu S; Marrosu G; Vannelli A; Cianchetti C; Muntoni F
Neurology; 1998 May; 50(5):1397-401. PubMed ID: 9595994
[TBL] [Abstract][Full Text] [Related]
22. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).
Ionasescu V; Searby C; Sheffield VC; Roklina T; Nishimura D; Ionasescu R
Hum Mol Genet; 1996 Sep; 5(9):1373-5. PubMed ID: 8872480
[TBL] [Abstract][Full Text] [Related]
23. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
Bouhouche A; Benomar A; Birouk N; Mularoni A; Meggouh F; Tassin J; Grid D; Vandenberghe A; Yahyaoui M; Chkili T; Brice A; LeGuern E
Am J Hum Genet; 1999 Sep; 65(3):722-7. PubMed ID: 10441578
[TBL] [Abstract][Full Text] [Related]
24. Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.
Bissar-Tadmouri N; Nelis E; Züchner S; Parman Y; Deymeer F; Serdaroglu P; De Jonghe P; Van Gerwen V; Timmerman V; Schröder JM; Battaloglu E
Neurology; 2004 May; 62(9):1522-5. PubMed ID: 15136675
[TBL] [Abstract][Full Text] [Related]
25. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P; Cianchetti C; Minaidou A; Marrosu G; Zamba-Papanicolaou E; Middleton L; Christodoulou K
Eur J Hum Genet; 2013 Feb; 21(2):190-4. PubMed ID: 22781092
[TBL] [Abstract][Full Text] [Related]
26. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
Yoshihara T; Yamamoto M; Hattori N; Misu K; Mori K; Koike H; Sobue G
J Peripher Nerv Syst; 2002 Dec; 7(4):221-4. PubMed ID: 12477167
[TBL] [Abstract][Full Text] [Related]
27. Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.
Kennerson ML; Zhu D; Gardner RJ; Storey E; Merory J; Robertson SP; Nicholson GA
Am J Hum Genet; 2001 Oct; 69(4):883-8. PubMed ID: 11533912
[TBL] [Abstract][Full Text] [Related]
28. [Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].
Luo W; Tang B; Zhao G; Li Q; Xiao J; Yang Q; Xia J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):169-70. PubMed ID: 12673592
[TBL] [Abstract][Full Text] [Related]
29. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A; Chaouch M; Kozlov S; Vallat JM; Tazir M; Kassouri N; Szepetowski P; Hammadouche T; Vandenberghe A; Stewart CL; Grid D; Lévy N
Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
[TBL] [Abstract][Full Text] [Related]
30. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
Auer-Grumbach M; De Jonghe P; Wagner K; Verhoeven K; Hartung HP; Timmerman V
Neurology; 2000 Nov; 55(10):1552-7. PubMed ID: 11094113
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
Fabrizi GM; Cavallaro T; Angiari C; Bertolasi L; Cabrini I; Ferrarini M; Rizzuto N
Neurology; 2004 Apr; 62(8):1429-31. PubMed ID: 15111691
[TBL] [Abstract][Full Text] [Related]
33. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.
Ben Othmane K; Middleton LT; Loprest LJ; Wilkinson KM; Lennon F; Rozear MP; Stajich JM; Gaskell PC; Roses AD; Pericak-Vance MA
Genomics; 1993 Aug; 17(2):370-5. PubMed ID: 8406488
[TBL] [Abstract][Full Text] [Related]
34. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
Chance PF; Fischbeck KH
Hum Mol Genet; 1994; 3 Spec No():1503-7. PubMed ID: 7849745
[TBL] [Abstract][Full Text] [Related]
35. Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.
Beckett J; Holden JJ; Simpson NE; White BN; MacLeod PM
J Neurogenet; 1986 Jul; 3(4):225-31. PubMed ID: 3462379
[TBL] [Abstract][Full Text] [Related]
36. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
Shin JS; Chung KW; Cho SY; Yun J; Hwang SJ; Kang SH; Cho EM; Kim SM; Choi BO
J Hum Genet; 2008; 53(10):936-940. PubMed ID: 18758688
[TBL] [Abstract][Full Text] [Related]
37. Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.
Ionasescu VV; Ionasescu R; Searby C
Muscle Nerve; 1993 Nov; 16(11):1232-8. PubMed ID: 8413376
[TBL] [Abstract][Full Text] [Related]
38. Molecular basis of hereditary neuropathies.
Chance PF
Phys Med Rehabil Clin N Am; 2001 May; 12(2):277-91. PubMed ID: 11345007
[TBL] [Abstract][Full Text] [Related]
39. [The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies].
Sevilla T
Rev Neurol; 2000 Jan 1-15; 30(1):71-9. PubMed ID: 10743001
[TBL] [Abstract][Full Text] [Related]
40. Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.
Kochanski A; Kennerson M; Kawulak M; Ryniewicz B; Rowinska-Marcinska K; Walizada G; Nowakowski A; Hausmanowa-Petrusewicz I; Nicholson GA
Neurology; 2005 Feb; 64(3):533-5. PubMed ID: 15699389
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
