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Journal Abstract Search

370 related items for PubMed ID: 18495953

  • 1. Late-onset hereditary axonal neuropathies.
    Bennett CL, Lawson VH, Brickell KL, Isaacs K, Seltzer W, Lipe HP, Weiss MD, Carter GT, Flanigan KM, Chance PF, Bird TD.
    Neurology; 2008 Jul 01; 71(1):14-20. PubMed ID: 18495953
    [Abstract] [Full Text] [Related]

  • 2. Late-onset HMSN 2: further evidence of genetic heterogeneity.
    Dyck PJ.
    Neurology; 2008 Jul 01; 71(1):9-10. PubMed ID: 18591500
    [No Abstract] [Full Text] [Related]

  • 3. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 01; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 64(7):966-70. PubMed ID: 17620486
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  • 6. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
    Brain; 2007 Apr 01; 130(Pt 4):1062-75. PubMed ID: 17347251
    [Abstract] [Full Text] [Related]

  • 7. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
    Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ.
    Rev Neurol (Paris); 2002 May 01; 158(5 Pt 1):579-88. PubMed ID: 12072826
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  • 9. Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
    Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F.
    Neuromuscul Disord; 2004 Dec 01; 14(12):804-9. PubMed ID: 15564036
    [Abstract] [Full Text] [Related]

  • 10. Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
    Passamonti L, Muglia M, Magariello A, Bellesi M, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Sprovieri T, Peluso G, Caracciolo M, Medici E, Logullo F, Provinciali L, Quattrone A.
    Neuromuscul Disord; 2004 Nov 01; 14(11):705-10. PubMed ID: 15482954
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  • 12. Phenotypic clustering in MPZ mutations.
    Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.
    Brain; 2004 Feb 01; 127(Pt 2):371-84. PubMed ID: 14711881
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
    Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L.
    Neurology; 2009 Jun 02; 72(22):1893-8. PubMed ID: 19357379
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  • 15. Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
    Burns TM, Phillips LH, Dimberg EL, Vaught BK, Klein CJ.
    Neuromuscul Disord; 2006 May 02; 16(5):308-10. PubMed ID: 16616847
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  • 17. Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
    Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D.
    Neuromuscul Disord; 2004 May 02; 14(5):301-6. PubMed ID: 15099588
    [Abstract] [Full Text] [Related]

  • 18. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
    Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.
    Arch Neurol; 2007 Jul 02; 64(7):974-8. PubMed ID: 17620487
    [Abstract] [Full Text] [Related]

  • 19. Reliability and validity of the CMT neuropathy score as a measure of disability.
    Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M.
    Neurology; 2005 Apr 12; 64(7):1209-14. PubMed ID: 15824348
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