These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 15719046)

  • 21. 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]  

  • 22. 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]  

  • 23. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
    Dubourg O; Tardieu S; Birouk N; Gouider R; Léger JM; Maisonobe T; Brice A; Bouche P; LeGuern E
    Brain; 2001 Oct; 124(Pt 10):1958-67. PubMed ID: 11571214
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].
    Kochański A; Ryniewicz B; Jedrzejowska H; Kabzińska D
    Neurol Neurochir Pol; 2002; 36(6):1087-94. PubMed ID: 12715686
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
    Nicholson GA; Yeung L; Corbett A
    Neurology; 1998 Nov; 51(5):1412-6. PubMed ID: 9818870
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
    Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].
    Bort S; Sevilla T; Vílchez JJ; Prieto F; Palau F
    Med Clin (Barc); 1995 May; 104(17):648-52. PubMed ID: 7623491
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH; Li YX; Chang XZ; Luan XH; Chen B; Bu DF; Yuan Y
    Zhonghua Yi Xue Za Zhi; 2009 Dec; 89(47):3328-31. PubMed ID: 20193560
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
    Meggouh F; Benomar A; Rouger H; Tardieu S; Birouk N; Tassin J; Barhoumi C; Yahyaoui M; Chkili T; Brice A; LeGuern E
    J Med Genet; 1998 Mar; 35(3):251-2. PubMed ID: 9541114
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
    Song S; Zhang Y; Chen B; Zhang Y; Wang M; Wang Y; Yan M; Zou J; Huang Y; Zhong N
    Genet Med; 2006 Aug; 8(8):532-5. PubMed ID: 16912585
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. [The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
    Zhang FF; Tang BS; Zhao GH; Luo W; Xia K; Liu XM; Xiao JF; Zhang RX; Chen B; Hang C; Pan Q; Cai F; Guo P
    Zhonghua Yi Xue Za Zhi; 2005 Jul; 85(26):1809-12. PubMed ID: 16253183
    [TBL] [Abstract][Full Text] [Related]  

  • 34. X-linked Charcot-Marie-Tooth disease and connexin32.
    Ionasescu VV
    Cell Biol Int; 1998 Nov; 22(11-12):807-13. PubMed ID: 10873293
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
    Sahin N; Tan M; Kalay E; Calapoglu M; Karaguzel A
    Int J Neurosci; 2003 Jun; 113(6):777-85. PubMed ID: 12775342
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
    Sun B; Chen Z; Ling L; Yang F; Huang X
    J Peripher Nerv Syst; 2017 Mar; 22(1):13-18. PubMed ID: 27862672
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
    Ikegami T; Lin C; Kato M; Itoh A; Nonaka I; Kurimura M; Hirayabashi H; Shinohara Y; Mochizuki A; Hayasaka K
    Am J Med Genet; 1998 Dec; 80(4):352-5. PubMed ID: 9856562
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
    Dubourg O; Tardieu S; Birouk N; Gouider R; Léger JM; Maisonobe T; Brice A; Bouche P; LeGuern E
    Neuromuscul Disord; 2001 Jul; 11(5):458-63. PubMed ID: 11404117
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
    Mandich P; Grandis M; Geroldi A; Acquaviva M; Varese A; Gulli R; Ciotti P; Bellone E
    J Hum Genet; 2008; 53(6):529-533. PubMed ID: 18379723
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
    Bähr M; Andres F; Timmerman V; Nelis ME; Van Broeckhoven C; Dichgans J
    J Neurol Neurosurg Psychiatry; 1999 Feb; 66(2):202-6. PubMed ID: 10071100
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.