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Journal Abstract Search

136 related items for PubMed ID: 9521281

  • 1. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
    Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A.
    Neurology; 1998 Mar; 50(3):799-801. PubMed ID: 9521281
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
    Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A.
    Ann N Y Acad Sci; 1999 Sep 14; 883():47-55. PubMed ID: 10586229
    [Abstract] [Full Text] [Related]

  • 3. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
    Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM.
    Genomics; 1999 Dec 15; 62(3):344-9. PubMed ID: 10644431
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  • 4. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.
    Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M.
    Hum Mol Genet; 1996 Jul 15; 5(7):1051-4. PubMed ID: 8817346
    [Abstract] [Full Text] [Related]

  • 5. Autosomal Recessive Hereditary Motor and Sensory Neuropathy with Focally Folded Myelin Sheaths (CMT4B).
    Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A.
    Ann N Y Acad Sci; 1999 Oct 15; 883(1):47-55. PubMed ID: 29086986
    [Abstract] [Full Text] [Related]

  • 6. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
    Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP.
    Genomics; 2000 Jan 15; 63(2):271-8. PubMed ID: 10673338
    [Abstract] [Full Text] [Related]

  • 7. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
    Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E.
    J Neurol Neurosurg Psychiatry; 1999 May 15; 66(5):569-74. PubMed ID: 10209165
    [Abstract] [Full Text] [Related]

  • 8. Exclusion of the SCN2B gene as candidate for CMT4B.
    Bolino A, Seri M, Caroli F, Eubanks J, Srinivasan J, Mandich P, Schenone A, Quattrone A, Romeo G, Catterall WA, Devoto M.
    Eur J Hum Genet; 1998 May 15; 6(6):629-34. PubMed ID: 9887383
    [Abstract] [Full Text] [Related]

  • 9. Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.
    Salih MA, Maisonobe T, Kabiraj M, al Rayess M, al-Turaiki MH, Akbar M, Tahan A, Urtizberea JA, Grid D, Hamadouche T, Guilbot A, Brice A, Leguern E.
    Neuromuscul Disord; 2000 Jan 15; 10(1):10-5. PubMed ID: 10677858
    [Abstract] [Full Text] [Related]

  • 10. [Genetic study of the autosomal recessive form of Charcot-Marie-Tooth in an Algerian family].
    Hamadouche T, Tazir-Melboucy M, Benhassine T.
    Arch Inst Pasteur Alger; 1998 Jan 15; 62():268-84. PubMed ID: 11256316
    [Abstract] [Full Text] [Related]

  • 11. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
    Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K.
    Hum Mol Genet; 2003 Feb 01; 12(3):349-56. PubMed ID: 12554688
    [Abstract] [Full Text] [Related]

  • 12. [The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies].
    Sevilla T.
    Rev Neurol; 2003 Feb 01; 30(1):71-9. PubMed ID: 10743001
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 67(1):236-43. PubMed ID: 10848494
    [Abstract] [Full Text] [Related]

  • 14. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
    Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR.
    Neurogenetics; 2001 Mar 01; 3(2):107-9. PubMed ID: 11354824
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  • 18. Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
    Houlden H, King RH, Wood NW, Thomas PK, Reilly MM.
    Brain; 2001 May 01; 124(Pt 5):907-15. PubMed ID: 11335693
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  • 19. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
    Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, Grid D.
    Neurology; 1997 Apr 01; 48(4):867-73. PubMed ID: 9109869
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  • 20. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
    Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K.
    Neurology; 2004 Aug 10; 63(3):577-80. PubMed ID: 15304601
    [Abstract] [Full Text] [Related]

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