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 *

105 related articles for article (PubMed ID: 18949782)

  • 1. Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
    Baker SK; Reith CC; Ainsworth PJ
    Muscle Nerve; 2008 Nov; 38(5):1510-1514. PubMed ID: 18949782
    [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. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
    Rouger H; LeGuern E; Birouk N; Gouider R; Tardieu S; Plassart E; Gugenheim M; Vallat JM; Louboutin JP; Bouche P; Agid Y; Brice A
    Hum Mutat; 1997; 10(6):443-52. PubMed ID: 9401007
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
    Karadima G; Koutsis G; Raftopoulou M; Floroskufi P; Karletidi KM; Panas M
    J Neurol Sci; 2014 Jun; 341(1-2):158-61. PubMed ID: 24768312
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
    Tsai PC; Chen CH; Liu AB; Chen YC; Soong BW; Lin KP; Yet SF; Lee YC
    J Neurol Sci; 2013 Sep; 332(1-2):51-5. PubMed ID: 23827825
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
    Sun B; Chen ZH; Ling L; Li YF; Liu LZ; Yang F; Huang XS
    Chin Med J (Engl); 2016 May; 129(9):1011-6. PubMed ID: 27098783
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
    Wu T; Wang HL; Chu CC; Yu JM; Chen JY; Huang CC
    Chang Gung Med J; 2004 Jul; 27(7):489-500. PubMed ID: 15508871
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
    Borgulová I; Mazanec R; Sakmaryová I; Havlová M; Safka Brožková D; Seeman P
    Neurogenetics; 2013 Nov; 14(3-4):189-95. PubMed ID: 23912496
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
    Ma W; Farrukh Nizam M; Grewal RP
    Neurol Sci; 2002 Oct; 23(4):195-7. PubMed ID: 12536289
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P; Mazanec R; Ctvrtecková M; Smilková D
    Int J Mol Med; 2001 Oct; 8(4):461-8. PubMed ID: 11562788
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
    Sagnelli A; Piscosquito G; Chiapparini L; Ciano C; Salsano E; Saveri P; Milani M; Taroni F; Pareyson D
    J Peripher Nerv Syst; 2014 Jun; 19(2):183-6. PubMed ID: 24863494
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
    Wang HL; Chang WT; Yeh TH; Wu T; Chen MS; Wu CY
    Neurobiol Dis; 2004 Mar; 15(2):361-70. PubMed ID: 15006706
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
    Agrahari AK; Kumar A; R S; Zayed H; C GPD
    J Theor Biol; 2018 Jan; 437():305-317. PubMed ID: 29111421
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
    Beauvais K; Furby A; Latour P
    Neuromuscul Disord; 2006 Jan; 16(1):14-8. PubMed ID: 16373087
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.