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Journal Abstract Search

246 related items for PubMed ID: 12707076

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  • 24. 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
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  • 26. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
    Stancanelli C, Taioli F, Testi S, Fabrizi GM, Arena MG, Granata F, Russo M, Gentile L, Vita G, Mazzeo A.
    J Peripher Nerv Syst; 2012 Dec; 17(4):407-11. PubMed ID: 23279342
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  • 27. Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.
    Fusco C, Frattini D, Pisani F, Spaggiari F, Ferlini A, Della Giustina E.
    J Child Neurol; 2010 Jun; 25(6):759-63. PubMed ID: 20382840
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  • 29. 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
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  • 31. 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
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  • 32. X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease.
    Isoardo G, Di Vito N, Nobile M, Benetton G, Fassio F.
    Neurology; 2005 Nov 22; 65(10):1672-3. PubMed ID: 16301507
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  • 33. [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].
    Verhamme C, Baas F.
    Ned Tijdschr Geneeskd; 2005 Jul 02; 149(27):1505-9. PubMed ID: 16032995
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  • 35. Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
    Nelis E, Simokovic S, Timmerman V, Löfgren A, Backhovens H, De Jonghe P, Martin JJ, Van Broeckhoven C.
    Hum Mutat; 1997 Jul 02; 9(1):47-52. PubMed ID: 8990008
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  • 36. Connexin32 and X-linked Charcot-Marie-Tooth disease.
    Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS.
    Neurobiol Dis; 1997 Jul 02; 4(3-4):221-30. PubMed ID: 9361298
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  • 37. A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
    Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.
    J Neurol; 2004 Feb 02; 251(2):222-3. PubMed ID: 14991359
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  • 38. Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
    Karadimas C, Panas M, Chronopoulou P, Avramopoulos D, Vassilopoulos D.
    Hum Mutat; 1999 Feb 02; 13(4):339. PubMed ID: 10220155
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  • 39. Brain white matter lesions in an italian family with charcot-marie-tooth disease.
    Sacco S, Totaro R, Bastianello S, Marini C, Carolei A.
    Eur Neurol; 2004 Feb 02; 51(3):168-71. PubMed ID: 15073442
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