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Journal Abstract Search

235 related items for PubMed ID: 11157804

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  • 3. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
    Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M.
    Am J Hum Genet; 2000 Jul; 67(1):236-43. PubMed ID: 10848494
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  • 4. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
    Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.
    Am J Hum Genet; 2001 Jan; 68(1):269-74. PubMed ID: 11112660
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  • 6. The function of the Periaxin gene during nerve repair in a model of CMT4F.
    Williams AC, Brophy PJ.
    J Anat; 2002 Apr; 200(4):323-30. PubMed ID: 12090399
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  • 8. A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.
    Sherman DL, Brophy PJ.
    Wellcome Open Res; 2018 Apr; 3():20. PubMed ID: 29623298
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  • 9. Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
    Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.
    Am J Hum Genet; 2001 Feb; 68(2):325-33. PubMed ID: 11133365
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  • 10. New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.
    Noriega E, Ramos E.
    J Clin Neuromuscul Dis; 2013 Dec; 15(2):63-8. PubMed ID: 24263033
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  • 12. Four novel cases of periaxin-related neuropathy and review of the literature.
    Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D.
    Neurology; 2010 Nov 16; 75(20):1830-8. PubMed ID: 21079185
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  • 16. [A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
    Shimohata M, Hirahara K, Igarashi S, Hara K, Kijima K, Onodera O, Tanaka K, Nishizawa M, Tsuji S, Hayasaka K.
    Rinsho Shinkeigaku; 2005 Mar 16; 45(3):221-5. PubMed ID: 15835292
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  • 19. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.
    LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A.
    Hum Mol Genet; 1996 Oct 16; 5(10):1685-8. PubMed ID: 8894708
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