BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 20482598)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
    Østern R; Fagerheim T; Hjellnes H; Nygård B; Mellgren SI; Nilssen Ø
    BMC Med Genet; 2013 Sep; 14():94. PubMed ID: 24053775
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
    Lorefice L; Murru MR; Coghe G; Fenu G; Corongiu D; Frau J; Tranquilli S; Tacconi P; Vannelli A; Marrosu G; Mamusa E; Cocco E; Marrosu MG
    Neurol Sci; 2017 Jun; 38(6):1019-1025. PubMed ID: 28286897
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 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. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
    Niemann A; Berger P; Suter U
    Neuromolecular Med; 2006; 8(1-2):217-42. PubMed ID: 16775378
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
    Yoshimura A; Yuan JH; Hashiguchi A; Ando M; Higuchi Y; Nakamura T; Okamoto Y; Nakagawa M; Takashima H
    J Neurol Neurosurg Psychiatry; 2019 Feb; 90(2):195-202. PubMed ID: 30257968
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
    Padilha JPD; Brasil CS; Hoefel AML; Winckler PB; Donis KC; Brusius-Facchin AC; Saute JAM
    Clin Genet; 2020 Aug; 98(2):185-190. PubMed ID: 32506583
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.
    Shahrizaila N; Samulong S; Tey S; Suan LC; Meng LK; Goh KJ; Ahmad-Annuar A
    Muscle Nerve; 2014 Feb; 49(2):198-201. PubMed ID: 23649551
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
    Choi BO; Lee MS; Shin SH; Hwang JH; Choi KG; Kim WK; Sunwoo IN; Kim NK; Chung KW
    Hum Mutat; 2004 Aug; 24(2):185-6. PubMed ID: 15241803
    [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 12.