BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

3819 related articles for article (PubMed ID: 23106488)

  • 1. 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]  

  • 2. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
    Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
    BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic epidemiology of Charcot-Marie-Tooth in the general population.
    Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
    Eur J Neurol; 2011 Jan; 18(1):39-48. PubMed ID: 20482598
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [Molecular genetics of inherited neuropathies].
    Takashima H
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Bort S; Nelis E; Timmerman V; Sevilla T; Cruz-Martínez A; Martínez F; Millán JM; Arpa J; Vílchez JJ; Prieto F; Van Broeckhoven C; Palau F
    Hum Genet; 1997 Jun; 99(6):746-54. PubMed ID: 9187667
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
    Bergamin G; Boaretto F; Briani C; Pegoraro E; Cacciavillani M; Martinuzzi A; Muglia M; Vettori A; Vazza G; Mostacciuolo ML
    Neuromolecular Med; 2014 Sep; 16(3):540-50. PubMed ID: 24819634
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
    Hattori N; Yamamoto M; Yoshihara T; Koike H; Nakagawa M; Yoshikawa H; Ohnishi A; Hayasaka K; Onodera O; Baba M; Yasuda H; Saito T; Nakashima K; Kira J; Kaji R; Oka N; Sobue G;
    Brain; 2003 Jan; 126(Pt 1):134-51. PubMed ID: 12477701
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
    Braathen GJ; Sand JC; Bukholm G; Russell MB
    BMC Neurol; 2007 Jul; 7():19. PubMed ID: 17620124
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
    Young P; Grote K; Kuhlenbäumer G; Debus O; Kurlemann H; Halfter H; Funke H; Ringelstein EB; Stögbauer F
    J Neurol; 2001 May; 248(5):410-5. PubMed ID: 11437164
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
    Rudnik-Schöneborn S; Tölle D; Senderek J; Eggermann K; Elbracht M; Kornak U; von der Hagen M; Kirschner J; Leube B; Müller-Felber W; Schara U; von Au K; Wieczorek D; Bußmann C; Zerres K
    Clin Genet; 2016 Jan; 89(1):34-43. PubMed ID: 25850958
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
    Nelis E; Haites N; Van Broeckhoven C
    Hum Mutat; 1999; 13(1):11-28. PubMed ID: 9888385
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
    Gess B; Schirmacher A; Boentert M; Young P
    Neuromuscul Disord; 2013 Aug; 23(8):647-51. PubMed ID: 23743332
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic clustering in MPZ mutations.
    Shy ME; Jáni A; Krajewski K; Grandis M; Lewis RA; Li J; Shy RR; Balsamo J; Lilien J; Garbern JY; Kamholz J
    Brain; 2004 Feb; 127(Pt 2):371-84. PubMed ID: 14711881
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 191.