239 related articles for article (PubMed ID: 23996628)
21. 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]
22. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Resko P; Radvansky J; Odnogova Z; Baldovic M; Minarik G; Polakova H; Palffy R; Kadasi L
Gen Physiol Biophys; 2011 Dec; 30(4):379-88. PubMed ID: 22131320
[TBL] [Abstract][Full Text] [Related]
23. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
Kalaydjieva L; Gresham D; Gooding R; Heather L; Baas F; de Jonge R; Blechschmidt K; Angelicheva D; Chandler D; Worsley P; Rosenthal A; King RH; Thomas PK
Am J Hum Genet; 2000 Jul; 67(1):47-58. PubMed ID: 10831399
[TBL] [Abstract][Full Text] [Related]
24. Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol; 2004; 57():228-42. PubMed ID: 16106622
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. [Hereditary motor and sensory Lom-neuropathy--first Hungarian case report].
Szabó A; Siska E; Molnár MJ
Ideggyogy Sz; 2007 Jan; 60(1-2):51-5. PubMed ID: 17432095
[TBL] [Abstract][Full Text] [Related]
27. A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy.
Drögemüller C; Becker D; Kessler B; Kemter E; Tetens J; Jurina K; Jäderlund KH; Flagstad A; Perloski M; Lindblad-Toh K; Matiasek K
PLoS One; 2010 Jun; 5(6):e11258. PubMed ID: 20582309
[TBL] [Abstract][Full Text] [Related]
28. Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Parman Y; Battaloglu E; Baris I; Bilir B; Poyraz M; Bissar-Tadmouri N; Williams A; Ammar N; Nelis E; Timmerman V; De Jonghe P; Najafov A; Deymeer F; Serdaroglu P; Brophy PJ; Said G
Brain; 2004 Nov; 127(Pt 11):2540-50. PubMed ID: 15469949
[TBL] [Abstract][Full Text] [Related]
29. Charcot-Marie-Tooth disease and related inherited neuropathies.
Murakami T; Garcia CA; Reiter LT; Lupski JR
Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
[TBL] [Abstract][Full Text] [Related]
30. NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.
Hunter M; Angelicheva D; Tournev I; Ingley E; Chan DC; Watts GF; Kremensky I; Kalaydjieva L
Biochem Biophys Res Commun; 2005 Jul; 332(4):982-92. PubMed ID: 15922294
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies).
Guergueltcheva V; Tournev I; Bojinova V; Hantke J; Litvinenko I; Ishpekova B; Shmarov A; Petrova J; Jordanova A; Kalaydjieva L
J Child Neurol; 2006 Jan; 21(1):20-5. PubMed ID: 16551448
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM; Tazir M; Magdelaine C; Sturtz F; Grid D
J Neuropathol Exp Neurol; 2005 May; 64(5):363-70. PubMed ID: 15892292
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. [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]
37. 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]
38. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Martin AM; Maradei SJ; Velasco HM
Colomb Med (Cali); 2015 Dec; 46(4):194-8. PubMed ID: 26848201
[TBL] [Abstract][Full Text] [Related]
39. Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease.
Jiang LT; Chen YH; Huang JH; Tong WF; Jin LJ; Li LX
Mol Cell Biol; 2022 Jul; 42(7):e0055921. PubMed ID: 35708320
[TBL] [Abstract][Full Text] [Related]
40. [Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].
Herczegfalvi A; Pikó H; Karcagi V
Ideggyogy Sz; 2008 Nov; 61(11-12):426-30. PubMed ID: 19070320
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
