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Journal Abstract Search

924 related items for PubMed ID: 9124803

  • 1. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.
    Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
    [Abstract] [Full Text] [Related]

  • 2. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH, Li YX, Chang XZ, Luan XH, Chen B, Bu DF, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2009 Dec 22; 89(47):3328-31. PubMed ID: 20193560
    [Abstract] [Full Text] [Related]

  • 3. [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
    Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y.
    Rinsho Shinkeigaku; 1995 Jul 22; 35(7):788-92. PubMed ID: 8777804
    [Abstract] [Full Text] [Related]

  • 4. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep 22; 41(3):306-13. PubMed ID: 10962051
    [Abstract] [Full Text] [Related]

  • 5. A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
    Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M.
    Neuromuscul Disord; 2004 May 22; 14(5):313-20. PubMed ID: 15099590
    [Abstract] [Full Text] [Related]

  • 6. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
    Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ.
    Brain; 2003 Sep 22; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 7. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
    Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ.
    Ann N Y Acad Sci; 1999 Sep 14; 883():366-82. PubMed ID: 10586261
    [Abstract] [Full Text] [Related]

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  • 9. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
    Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.
    Brain; 2004 Jan 14; 127(Pt 1):154-63. PubMed ID: 14607793
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 64(7):966-70. PubMed ID: 17620486
    [Abstract] [Full Text] [Related]

  • 11. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
    Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.
    Arch Neurol; 2003 Apr 14; 60(4):598-604. PubMed ID: 12707075
    [Abstract] [Full Text] [Related]

  • 12. [A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene].
    Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K.
    Rinsho Shinkeigaku; 1994 Nov 14; 34(11):1162-7. PubMed ID: 7537189
    [Abstract] [Full Text] [Related]

  • 13. 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 14; 130(Pt 4):1062-75. PubMed ID: 17347251
    [Abstract] [Full Text] [Related]

  • 14. [A family of hereditary motor and sensory neuropathy type I with a new type of myelin P0 mutation].
    Ohnishi A, Ohnari K, Hashimoto T, Hayasaka K, Yoshimura T, Fukushima Y.
    Rinsho Shinkeigaku; 1994 Jun 14; 34(6):546-51. PubMed ID: 7525134
    [Abstract] [Full Text] [Related]

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  • 16. Peroneal muscular atrophy with autosomal dominant inheritance.
    McLeod JG, Low PA.
    Clin Exp Neurol; 1977 Jun 14; 14():142-53. PubMed ID: 616594
    [Abstract] [Full Text] [Related]

  • 17. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
    LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A.
    Ann Neurol; 1997 Jan 14; 41(1):104-8. PubMed ID: 9005872
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  • 19. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
    Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG.
    Brain; 2005 Oct 14; 128(Pt 10):2304-14. PubMed ID: 16014653
    [Abstract] [Full Text] [Related]

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