Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies

By Chan Yiumo Michael   Keramaris-Vrantsis Elizabeth   Lidov Hart G.   Norton James H.   Zinchenko Natalia   Gruber Helen E.   Thresher Randy   Blake Derek J.   Ashar Jignya   Rosenfeld Jeffrey   Lu Qi L.  

Human Molecular Genetics, Vol. 19, Iss. 20, 2010-10 ,pp. : 3995-4006

Oxford University Press

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Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1587-1592

John Wiley & Sons Inc

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Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large myd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders

By Holzfeind P.J.  

Human Molecular Genetics, Vol. 11, Iss. 21, 2002-10 ,pp. : 2673-2687

Oxford University Press

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Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

By Custer Sara K.   Neumann Manuela   Lu Hongbo   Wright Alexander C.   Taylor J. Paul  

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Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain

By Krainc D.  

Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 1911-1926

Oxford University Press

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