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Journal Abstract Search


324 related items for PubMed ID: 12687498

  • 1. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
    Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.
    Am J Hum Genet; 2003 May; 72(5):1141-53. PubMed ID: 12687498
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  • 7. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
    Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka KV, Young P, Suter U.
    Hum Mol Genet; 2007 Dec 15; 16(24):2991-3001. PubMed ID: 17855448
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  • 10. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
    Robinson FL, Niesman IR, Beiswenger KK, Dixon JE.
    Proc Natl Acad Sci U S A; 2008 Mar 25; 105(12):4916-21. PubMed ID: 18349142
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  • 14. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
    Niemann A, Berger P, Suter U.
    Neuromolecular Med; 2006 Mar 25; 8(1-2):217-42. PubMed ID: 16775378
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  • 15. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
    Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
    Ann Neurol; 2019 Jul 25; 86(1):55-67. PubMed ID: 31070812
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  • 16. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
    Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E.
    Neuromolecular Med; 2006 Jul 25; 8(1-2):75-86. PubMed ID: 16775368
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  • 17. 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
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  • 18. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
    Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M.
    Hum Mol Genet; 2001 Feb 15; 10(4):415-21. PubMed ID: 11157804
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  • 19. 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 15; 67(1):236-43. PubMed ID: 10848494
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  • 20. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
    Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A.
    J Neurosci; 2005 Sep 14; 25(37):8567-77. PubMed ID: 16162938
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