126 related articles for article (PubMed ID: 8482547)
1. Sequence of human GAS3/PMP22 full-length cDNA.
Edomi P; Martinotti A; Colombo MP; Schneider C
Gene; 1993 Apr; 126(2):289-90. PubMed ID: 8482547
[TBL] [Abstract][Full Text] [Related]
2. Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.
Fontanini A; Chies R; Snapp EL; Ferrarini M; Fabrizi GM; Brancolini C
J Biol Chem; 2005 Jan; 280(3):2378-87. PubMed ID: 15537650
[TBL] [Abstract][Full Text] [Related]
3. Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.
Brancolini C; Edomi P; Marzinotto S; Schneider C
Mol Biol Cell; 2000 Sep; 11(9):2901-14. PubMed ID: 10982389
[TBL] [Abstract][Full Text] [Related]
4. Identification and characterization of a new member of the gas3/PMP22 gene family in C. elegans.
Agostoni E; Gobessi S; Brancolini C; Schneider C
Gene; 1999 Jul; 234(2):267-74. PubMed ID: 10395899
[TBL] [Abstract][Full Text] [Related]
5. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.
Fabbretti E; Edomi P; Brancolini C; Schneider C
Genes Dev; 1995 Aug; 9(15):1846-56. PubMed ID: 7649472
[TBL] [Abstract][Full Text] [Related]
6. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.
Hanemann CO; Stoll G; D'Urso D; Fricke W; Martin JJ; Van Broeckhoven C; Mancardi GL; Bartke I; Müller HW
J Neurosci Res; 1994 Apr; 37(5):654-9. PubMed ID: 8028042
[TBL] [Abstract][Full Text] [Related]
7. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
Marrosu MG; Vaccargiu S; Marrosu G; Vannelli A; Cianchetti C; Muntoni F
Neurology; 1997 Feb; 48(2):489-93. PubMed ID: 9040744
[TBL] [Abstract][Full Text] [Related]
8. Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A.
Rautenstrauss B; Huehne K; Thiel C; Kraus C
Hum Genet; 2007 Dec; 122(5):545. PubMed ID: 18380017
[No Abstract] [Full Text] [Related]
9. Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.
Patel PI
Curr Opin Genet Dev; 1993 Jun; 3(3):438-44. PubMed ID: 8353419
[TBL] [Abstract][Full Text] [Related]
10. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Roa BB; Garcia CA; Suter U; Kulpa DA; Wise CA; Mueller J; Welcher AA; Snipes GJ; Shooter EM; Patel PI; Lupski JR
N Engl J Med; 1993 Jul; 329(2):96-101. PubMed ID: 8510709
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22.
Brancolini C; Marzinotto S; Edomi P; Agostoni E; Fiorentini C; Müller HW; Schneider C
Mol Biol Cell; 1999 Jul; 10(7):2441-59. PubMed ID: 10397775
[TBL] [Abstract][Full Text] [Related]
13. Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B; Huehne K
Hum Genet; 2007 Dec; 122(5):556. PubMed ID: 18383612
[No Abstract] [Full Text] [Related]
14. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
Mathis S; Corcia P; Tazir M; Camu W; Magdelaine C; Latour P; Biberon J; Guennoc AM; Richard L; Magy L; Funalot B; Vallat JM
Neuromuscul Disord; 2014 Jun; 24(6):524-8. PubMed ID: 24792522
[TBL] [Abstract][Full Text] [Related]
15. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Patel PI; Roa BB; Welcher AA; Schoener-Scott R; Trask BJ; Pentao L; Snipes GJ; Garcia CA; Francke U; Shooter EM; Lupski JR; Suter U
Nat Genet; 1992 Jun; 1(3):159-65. PubMed ID: 1303228
[TBL] [Abstract][Full Text] [Related]
16. Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22.
Chies R; Nobbio L; Edomi P; Schenone A; Schneider C; Brancolini C
J Cell Sci; 2003 Mar; 116(Pt 6):987-99. PubMed ID: 12584243
[TBL] [Abstract][Full Text] [Related]
17. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Timmerman V; Nelis E; Van Hul W; Nieuwenhuijsen BW; Chen KL; Wang S; Ben Othman K; Cullen B; Leach RJ; Hanemann CO
Nat Genet; 1992 Jun; 1(3):171-5. PubMed ID: 1303230
[TBL] [Abstract][Full Text] [Related]
18. Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.
Fusco C; Frattini D; Scarano A; Giustina ED
Pediatr Neurol; 2009 Jun; 40(6):461-4. PubMed ID: 19433282
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
[TBL] [Abstract][Full Text] [Related]
20. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A.
Hanemann CO; D'Urso D; Gabreëls-Festen AA; Müller HW
Brain; 2000 May; 123 ( Pt 5)():1001-6. PubMed ID: 10775544
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
