BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

306 related articles for article (PubMed ID: 7550231)

  • 1. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
    Latour P; Blanquet F; Nelis E; Bonnebouche C; Chapon F; Diraison P; Ollagnon E; Dautigny A; Pham-Dinh D; Chazot G
    Hum Mutat; 1995; 6(1):50-4. PubMed ID: 7550231
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
    Hayasaka K
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1444-6. PubMed ID: 8752425
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
    Kochański A; Kabzińska D; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
    Eur J Paediatr Neurol; 2004; 8(4):221-4. PubMed ID: 15261887
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
    Lee YC; Soong BW; Lin KP; Lee HY; Wu ZA; Kao KP
    J Neurol Sci; 2004 Apr; 219(1-2):95-100. PubMed ID: 15050444
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K
    Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
    Mersiyanova IV; Ismailov SM; Polyakov AV; Dadali EL; Fedotov VP; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov OV
    Hum Mutat; 2000; 15(4):340-7. PubMed ID: 10737979
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
    Mostacciuolo ML; Righetti E; Zortea M; Bosello V; Schiavon F; Vallo L; Merlini L; Siciliano G; Fabrizi GM; Rizzuto N; Milani M; Baratta S; Taroni F
    Hum Mutat; 2001; 18(1):32-41. PubMed ID: 11438991
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
    Silander K; Meretoja P; Juvonen V; Ignatius J; Pihko H; Saarinen A; Wallden T; Herrgård E; Aula P; Savontaus ML
    Hum Mutat; 1998; 12(1):59-68. PubMed ID: 9633821
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation testing in Charcot-Marie-Tooth neuropathy.
    Nicholson GA
    Ann N Y Acad Sci; 1999 Sep; 883():383-8. PubMed ID: 10586262
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
    Nowakowski A; Kochański A
    Acta Biochim Pol; 2004; 51(1):273-80. PubMed ID: 15094849
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
    Kochanski A; Drac H; Kabzińska D; Hausmanowa-Petrusewicz I
    Neuromuscul Disord; 2004 Mar; 14(3):229-32. PubMed ID: 15036333
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
    Roa BB; Garcia CA; Lupski JR
    Int J Neurol; 1991-1992; 25-26():97-107. PubMed ID: 11980069
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
    Roa BB; Garcia CA; Pentao L; Killian JM; Trask BJ; Suter U; Snipes GJ; Ortiz-Lopez R; Shooter EM; Patel PI; Lupski JR
    Nat Genet; 1993 Oct; 5(2):189-94. PubMed ID: 8252046
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
    Hayasaka K; Himoro M; Sato W; Takada G; Uyemura K; Shimizu N; Bird TD; Conneally PM; Chance PF
    Nat Genet; 1993 Sep; 5(1):31-4. PubMed ID: 7693129
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Genetics of peripheral neuropathies and hereditary ataxias].
    Palau F; Sevilla T
    Neurologia; 1995 Dec; 10 Suppl 1():32-43. PubMed ID: 8838557
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
    Xiao J; Tang B; Xia J
    Zhonghua Yi Xue Za Zhi; 2001 Feb; 81(3):138-41. PubMed ID: 11798863
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.