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Journal Abstract Search

354 related items for PubMed ID: 15099592

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  • 2. Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).
    Postelmans JT, Stokroos RJ.
    J Laryngol Otol; 2006 Jun; 120(6):508-10. PubMed ID: 16772060
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  • 3. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
    Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR.
    N Engl J Med; 1993 Jul 08; 329(2):96-101. PubMed ID: 8510709
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  • 8. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
    Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.
    Eur J Paediatr Neurol; 2004 Jul 08; 8(4):221-4. PubMed ID: 15261887
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  • 9. Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.
    Seeman P, Mazanec R, Marikova T, Rautenstrauss B.
    Ann N Y Acad Sci; 1999 Sep 14; 883():485-9. PubMed ID: 10586280
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  • 10. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
    Sambuughin N, de Bantel A, McWilliams S, Sivakumar K.
    Neurology; 2003 Feb 11; 60(3):506-8. PubMed ID: 12578939
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  • 11. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
    Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I.
    Neuromuscul Disord; 2004 Mar 11; 14(3):229-32. PubMed ID: 15036333
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  • 12. 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 11; 20(5):392-8. PubMed ID: 12402337
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  • 13. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
    Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I.
    J Peripher Nerv Syst; 2006 Jun 11; 11(2):148-55. PubMed ID: 16787513
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  • 14. Overview of Charcot-Marie-Tooth disease type 1A.
    Thomas PK.
    Ann N Y Acad Sci; 1999 Sep 14; 883():1-5. PubMed ID: 10586223
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  • 15. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
    Xiao J, Tang B, Xia J.
    Zhonghua Yi Xue Za Zhi; 2001 Feb 10; 81(3):138-41. PubMed ID: 11798863
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  • 16. 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 10; 64(7):966-70. PubMed ID: 17620486
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  • 17. 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 10; 16(1):14-8. PubMed ID: 16373087
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  • 18. 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 10; 57(4):589-91. PubMed ID: 15786462
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  • 19. 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 10; 8(4):461-8. PubMed ID: 11562788
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  • 20. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
    Roa BB, Garcia CA, Lupski JR.
    Int J Neurol; 2001 Oct 10; 25-26():97-107. PubMed ID: 11980069
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