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 *

131 related articles for article (PubMed ID: 16877806)

  • 1. How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
    Kochański A
    J Appl Genet; 2006; 47(3):255-60. PubMed ID: 16877806
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Charcot-Marie-Tooth disorders: past, today and tomorrow].
    Kochański A
    Neurol Neurochir Pol; 2006; 40(4):327-35. PubMed ID: 16967355
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).
    Kabzinska D; Pierscinska J; Kochanski A
    J Appl Genet; 2009; 50(3):283-8. PubMed ID: 19638685
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Molecular genetics of Charcot-Marie-Tooth disease].
    Zhang YZ; Zhong N
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):100-5. PubMed ID: 15719054
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
    Meggouh F; de Visser M; Arts WF; De Coo RI; van Schaik IN; Baas F
    Ann Neurol; 2005 Apr; 57(4):589-91. PubMed ID: 15786462
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
    Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. De novo mutation of Charcot-Marie-Tooth disease type 1A.
    Tachi N; Kozuka N; Ohya K; Chiba S
    Pediatr Neurol; 1997 Jul; 17(1):67-9. PubMed ID: 9308980
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].
    Xing JW; Liu YH; Shamsi BH; Liu XH; Tan L; Xu M
    Zhongguo Dang Dai Er Ke Za Zhi; 2011 Oct; 13(10):799-803. PubMed ID: 22000434
    [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. A large family with Charcot-Marie-Tooth Type 1a and Type 2 diabetes mellitus.
    Koç F; Sarica Y; Yerdelen D; Baris I; Battaloglu E; Sert M
    Int J Neurosci; 2006 Feb; 116(2):103-14. PubMed ID: 16393877
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.
    Kochański A
    Folia Neuropathol; 2004; 42(3):187-90. PubMed ID: 15535039
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
    Abe A; Numakura C; Kijima K; Hayashi M; Hashimoto T; Hayasaka K
    J Hum Genet; 2011 May; 56(5):364-8. PubMed ID: 21326314
    [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. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
    Numakura C; Lin C; Oka N; Akiguchi I; Hayasaka K
    Ann Neurol; 2000 Jan; 47(1):101-3. PubMed ID: 10632107
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
    Street VA; Bennett CL; Goldy JD; Shirk AJ; Kleopa KA; Tempel BL; Lipe HP; Scherer SS; Bird TD; Chance PF
    Neurology; 2003 Jan; 60(1):22-6. PubMed ID: 12525712
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
    Yoshihara T; Yamamoto M; Hattori N; Misu K; Mori K; Koike H; Sobue G
    J Peripher Nerv Syst; 2002 Dec; 7(4):221-4. PubMed ID: 12477167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.