115 related articles for article (PubMed ID: 15122712)
1. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Bennett CL; Shirk AJ; Huynh HM; Street VA; Nelis E; Van Maldergem L; De Jonghe P; Jordanova A; Guergueltcheva V; Tournev I; Van Den Bergh P; Seeman P; Mazanec R; Prochazka T; Kremensky I; Haberlova J; Weiss MD; Timmerman V; Bird TD; Chance PF
Ann Neurol; 2004 May; 55(5):713-20. PubMed ID: 15122712
[TBL] [Abstract][Full Text] [Related]
2. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Latour P; Gonnaud PM; Ollagnon E; Chan V; Perelman S; Stojkovic T; Stoll C; Vial C; Ziegler F; Vandenberghe A; Maire I
J Peripher Nerv Syst; 2006 Jun; 11(2):148-55. PubMed ID: 16787513
[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. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Street VA; Bennett CL; Goldy JD; Shirk AJ; Kleopa KA; Tempel BL; Lipe HP; Scherer SS; Bird TD; Chance PF
Neurology; 2003 Jan; 60(1):22-6. PubMed ID: 12525712
[TBL] [Abstract][Full Text] [Related]
5. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
Hahn AF; Bolton CF; White CM; Brown WF; Tuuha SE; Tan CC; Ainsworth PJ
Ann N Y Acad Sci; 1999 Sep; 883():366-82. PubMed ID: 10586261
[TBL] [Abstract][Full Text] [Related]
6. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
Beauvais K; Furby A; Latour P
Neuromuscul Disord; 2006 Jan; 16(1):14-8. PubMed ID: 16373087
[TBL] [Abstract][Full Text] [Related]
7. A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
Ciotti P; Luigetti M; Geroldi A; Capponi S; Pezzini I; Gulli R; Pazzaglia C; Padua L; Massa R; Mandich P; Bellone E
J Neurol Sci; 2014 Aug; 343(1-2):183-6. PubMed ID: 24880540
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.
Gerding WM; Koetting J; Epplen JT; Neusch C
Neuromuscul Disord; 2009 Oct; 19(10):701-3. PubMed ID: 19541485
[TBL] [Abstract][Full Text] [Related]
10. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
Berger P; Niemann A; Suter U
Glia; 2006 Sep; 54(4):243-57. PubMed ID: 16856148
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
Meggouh F; de Visser M; Arts WF; De Coo RI; van Schaik IN; Baas F
Ann Neurol; 2005 Apr; 57(4):589-91. PubMed ID: 15786462
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Guimarães-Costa R; Iancu Ferfoglia R; Leonard-Louis S; Ziegler F; Magy L; Fournier E; Dubourg O; Bouche P; Maisonobe T; Lacour A; Moerman A; Latour P; Stojkovic T
Eur J Neurol; 2017 Mar; 24(3):530-538. PubMed ID: 28211240
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Kleopa KA; Zamba-Papanicolaou E; Alevra X; Nicolaou P; Georgiou DM; Hadjisavvas A; Kyriakides T; Christodoulou K
Neurology; 2006 Feb; 66(3):396-402. PubMed ID: 16476939
[TBL] [Abstract][Full Text] [Related]
17. [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].
Verhamme C; Baas F
Ned Tijdschr Geneeskd; 2005 Jul; 149(27):1505-9. PubMed ID: 16032995
[TBL] [Abstract][Full Text] [Related]
18. Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Jerath NU; Shy ME
Muscle Nerve; 2017 Dec; 56(6):1092-1095. PubMed ID: 28164329
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]