Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

By Matsuda Junko  

Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2709-2723

Oxford University Press

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Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female Germline

By van den Hurk José A. J. M.  

Human Molecular Genetics, Vol. 6, Iss. 6, 1997-01 ,pp. : 851-858

Oxford University Press

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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

By Maw Marion A.   Corbeil Denis  

Human Molecular Genetics, Vol. 9, Iss. 1, 2000-01 ,pp. : 27-34

Oxford University Press

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Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb

By Kurapati Ramakrishna   McKenna Caoimhe   Lindqvist Johan   Williams Debbie   Simon Michelle   LeProust Emily   Baker Jane   Cheeseman Michael   Carroll Natalie   Denny Paul   Laval Steve   Lochmüller Hanns   Ochala Julien   Blanco Gonzalo  

Human Molecular Genetics, Vol. 21, Iss. 8, 2012-04 ,pp. : 1706-1724

Oxford University Press

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Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150 Glued subunit of dynactin

By Chevalier-Larsen Erica S.   Wallace Karen E.   Pennise Cynthia R.   Holzbaur Erika L.F.  

Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 1946-1955

Oxford University Press

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