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Journal Abstract Search

164 related items for PubMed ID: 8630052

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  • 4. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
    Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N.
    Nat Genet; 1993 Nov; 5(3):266-8. PubMed ID: 7506095
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  • 5. 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; 127(Pt 2):371-84. PubMed ID: 14711881
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  • 6. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
    Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR.
    Nat Genet; 1993 Nov; 5(3):269-73. PubMed ID: 8275092
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  • 7. Marked phenotypic variation in a family with a new myelin protein zero mutation.
    Szabo A, Züchner S, Siska E, Mechler F, Molnar MJ.
    Neuromuscul Disord; 2005 Nov; 15(11):760-3. PubMed ID: 16198109
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  • 8. P0-deficient knockout mice as tools to understand pathomechanisms in Charcot-Marie-Tooth 1B and P0-related Déjérine-Sottas syndrome.
    Martini R.
    Ann N Y Acad Sci; 1999 Sep 14; 883():273-80. PubMed ID: 10586252
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  • 14. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
    Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.
    Nat Genet; 1993 Sep 14; 5(1):31-4. PubMed ID: 7693129
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  • 20. A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
    Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML.
    Hum Mutat; 1996 Sep 14; 8(4):304-10. PubMed ID: 8956034
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