BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

334 related articles for article (PubMed ID: 11437164)

  • 1. 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]  

  • 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 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]  

  • 4. 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]  

  • 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. 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]  

  • 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. 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 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. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
    Miltenberger-Miltenyi G; Schwarzbraun T; Löscher WN; Wanschitz J; Windpassinger C; Duba HC; Seidl R; Albrecht G; Weirich-Schwaiger H; Zoller H; Utermann G; Auer-Grumbach M; Janecke AR
    Eur J Hum Genet; 2009 Sep; 17(9):1154-9. PubMed ID: 19259128
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
    Manganelli F; Tozza S; Pisciotta C; Bellone E; Iodice R; Nolano M; Geroldi A; Capponi S; Mandich P; Santoro L
    J Peripher Nerv Syst; 2014 Dec; 19(4):292-8. PubMed ID: 25429913
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.
    Keckarevic-Markovic M; Milic-Rasic V; Mladenovic J; Dackovic J; Kecmanovic M; Keckarevic D; Savic-Pavicevic D; Romac S
    J Peripher Nerv Syst; 2009 Jun; 14(2):125-36. PubMed ID: 19691535
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inherited neuropathies: from gene to disease.
    Keller MP; Chance PF
    Brain Pathol; 1999 Apr; 9(2):327-41. PubMed ID: 10219749
    [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: 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]  

  • 18. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
    Roa BB; Warner LE; Garcia CA; Russo D; Lovelace R; Chance PF; Lupski JR
    Hum Mutat; 1996; 7(1):36-45. PubMed ID: 8664899
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
    Santoro L; Manganelli F; Di Maria E; Bordo D; Cassandrini D; Ajmar F; Mandich P; Bellone E
    J Neurol Neurosurg Psychiatry; 2004 Feb; 75(2):262-5. PubMed ID: 14742601
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.