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2. 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; 16(24):2991-3001. PubMed ID: 17855448 [TBL] [Abstract][Full Text] [Related]
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5. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Berger P; Bonneick S; Willi S; Wymann M; Suter U Hum Mol Genet; 2002 Jun; 11(13):1569-79. PubMed ID: 12045210 [TBL] [Abstract][Full Text] [Related]
6. [Molecular genetics of inherited neuropathies]. Takashima H Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790 [TBL] [Abstract][Full Text] [Related]
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12. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Berger P; Niemann A; Suter U Glia; 2006 Sep; 54(4):243-57. PubMed ID: 16856148 [TBL] [Abstract][Full Text] [Related]
13. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Kim SA; Vacratsis PO; Firestein R; Cleary ML; Dixon JE Proc Natl Acad Sci U S A; 2003 Apr; 100(8):4492-7. PubMed ID: 12668758 [TBL] [Abstract][Full Text] [Related]
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15. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Chojnowski A; Ravisé N; Bachelin C; Depienne C; Ruberg M; Brugg B; Laporte J; Baron-Van Evercooren A; LeGuern E Neurobiol Dis; 2007 May; 26(2):323-31. PubMed ID: 17336078 [TBL] [Abstract][Full Text] [Related]
16. 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; 105(12):4916-21. PubMed ID: 18349142 [TBL] [Abstract][Full Text] [Related]
17. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim SA; Taylor GS; Torgersen KM; Dixon JE J Biol Chem; 2002 Feb; 277(6):4526-31. PubMed ID: 11733541 [TBL] [Abstract][Full Text] [Related]
18. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Ng AA; Logan AM; Schmidt EJ; Robinson FL Hum Mol Genet; 2013 Apr; 22(8):1493-506. PubMed ID: 23297362 [TBL] [Abstract][Full Text] [Related]
19. [Autosomal recessive forms of Charcot-Marie-Tooth disease]. Vallat JM; Grid D; Magdelaine C; Sturtz F; Levy N; Tazir M Bull Acad Natl Med; 2005 Jan; 189(1):55-68; discussion 68-9. PubMed ID: 16119880 [TBL] [Abstract][Full Text] [Related]
20. Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. Negrão L; Almendra L; Ribeiro J; Matos A; Geraldo A; Pinto-Basto J Acta Myol; 2014 Dec; 33(3):144-8. PubMed ID: 25873783 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]