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

By Ng Aubree A.   Logan Anne M.   Schmidt Eric J.   Robinson Fred L.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1493-1506

Oxford University Press

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

By Senderek J.  

Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 349-356

Oxford University Press

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

By Senderek Jan   Bergmann Carsten   Weber Susanne   Ketelsen Uwe-Peter   Schorle Hubert   Rudnik-Schöneborn Sabine   Büttner Reinhard   Buchheim Eckhard   Zerres Klaus  

Human Molecular Genetics, Vol. 13, Iss. 3, 2004-02 ,pp. : 363-363

Oxford University Press

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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

By Schultheis Patrick J.   Fleming Sheila M.   Clippinger Amy K.   Lewis Jada   Tsunemi Taiji   Giasson Benoit   Dickson Dennis W.   Mazzulli Joseph R.   Bardgett Mark E.   Haik Kristi L.   Ekhator Osunde   Chava Anil Kumar   Howard John   Gannon Matt   Hoffman Elizabeth   Chen Yinhuai   Prasad Vikram   Linn Stephen C.   Tamargo Rafael J.   Westbroek Wendy   Sidransky Ellen   Krainc Dimitri   Shull Gary E.  

Human Molecular Genetics, Vol. 22, Iss. 10, 2013-05 ,pp. : 2067-2082

Oxford University Press

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Muscle-specific BCL2 expression ameliorates muscle disease in laminin α2-deficient, but not in dystrophin-deficient, mice

By Dominov Janice A.   Kravetz Amanda J.   Ardelt Magdalena   Kostek Christine A.   Beermann Mary Lou   Miller Jeffrey B.  

Human Molecular Genetics, Vol. 14, Iss. 8, 2005-04 ,pp. : 1029-1040

Oxford University Press

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