BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

112 related articles for article (PubMed ID: 10586255)

  • 41. A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
    Gupta S; Benstead T; Neumann P; Guernsey D
    Hum Mutat; 1996; 8(4):375-6. PubMed ID: 8956046
    [No Abstract]   [Full Text] [Related]  

  • 42. 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]  

  • 43. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
    Kleopa KA; Zamba-Papanicolaou E; Alevra X; Nicolaou P; Georgiou DM; Hadjisavvas A; Kyriakides T; Christodoulou K
    Neurology; 2006 Feb; 66(3):396-402. PubMed ID: 16476939
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.
    Lewis RA; Sumner AJ
    Ann N Y Acad Sci; 1999 Sep; 883():321-35. PubMed ID: 10586257
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
    Oterino A; Montón FI; Cabrera VM; Pinto F; Gonzalez A; Lavilla NR
    J Med Genet; 1996 May; 33(5):413-5. PubMed ID: 8733054
    [TBL] [Abstract][Full Text] [Related]  

  • 46. An animal model for Charcot-Marie-Tooth disease type 4B1.
    Bonneick S; Boentert M; Berger P; Atanasoski S; Mantei N; Wessig C; Toyka KV; Young P; Suter U
    Hum Mol Genet; 2005 Dec; 14(23):3685-95. PubMed ID: 16249189
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
    Kochanski A; Lofgren A; Jedrzejowska H; Ryniewicz B; Czarny-Ratajczak M; Barciszewska A; Samocko J; Hausmanowa-Petrusewicz I; De Jonghe P; Timmerman V; Latos-Bielenska A
    Hum Mutat; 2001 Feb; 17(2):157. PubMed ID: 11180613
    [No Abstract]   [Full Text] [Related]  

  • 48. 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]  

  • 49. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
    Bruzzone R; White TW; Scherer SS; Fischbeck KH; Paul DL
    Neuron; 1994 Nov; 13(5):1253-60. PubMed ID: 7946361
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A novel insertional mutation in Connexin 32 gene causes demyelinating polyneuropathy with predominantly motor axonal loss.
    Zhou L; Höke A
    J Peripher Nerv Syst; 2004 Dec; 9(4):194-5. PubMed ID: 15574129
    [No Abstract]   [Full Text] [Related]  

  • 51. Mutation screening of Charcot-Marie-Tooth patients in Poland.
    Kochański A; Timmerman V; Jedrzejowska H; Ryniewicz B; Löfgren A; De Vriendt E; Van Broeckhoven C; Latos-Bieleńska A; Hausmanowa-Petrusewicz I
    Ann N Y Acad Sci; 1999 Sep; 883():493-6. PubMed ID: 10586282
    [No Abstract]   [Full Text] [Related]  

  • 52. New mutation of gap junction protein beta1 (GJB1) gene in X-linked hereditary motor and sensory neuropathy.
    Umehara F; Arimura Y; Osame M; Minato S; Nakahara K
    J Peripher Nerv Syst; 2006 Mar; 11(1):96-7. PubMed ID: 16519791
    [No Abstract]   [Full Text] [Related]  

  • 53. [Ins(1,4,5)P3: a messenger for hearing].
    Bruzzone R; Cohen-Salmon M
    Med Sci (Paris); 2005; 21(6-7):585-8. PubMed ID: 15985198
    [No Abstract]   [Full Text] [Related]  

  • 54. 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]  

  • 55. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
    Yoshihara T; Yamamoto M; Doyu M; Mis KI; Hattori N; Hasegawa Y; Mokuno K; Mitsuma T; Sobue G
    Hum Mutat; 2000 Aug; 16(2):177-8. PubMed ID: 10923043
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
    Matsuyama W; Nakagawa M; Moritoyo T; Takashima H; Umehara F; Hirata K; Suehara M; Osame M
    J Hum Genet; 2001; 46(6):307-13. PubMed ID: 11393532
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Genetics of Charcot-Marie-Tooth disease.
    Pleasure DE
    Arch Neurol; 2003 Apr; 60(4):481-2. PubMed ID: 12707058
    [No Abstract]   [Full Text] [Related]  

  • 58. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
    Vondracek P; Seeman P; Hermanova M; Fajkusova L
    Muscle Nerve; 2005 Feb; 31(2):252-5. PubMed ID: 15468313
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?
    Meekins GD; Emery MJ; Weiss MD
    J Peripher Nerv Syst; 2004 Sep; 9(3):177-82. PubMed ID: 15363066
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Charcot-Marie-Tooth disease].
    Okabe S; Gotoh J
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):419-22. PubMed ID: 11057275
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.