Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease

By Shirendeb Ulziibat P.   Calkins Marcus J.   Manczak Maria   Anekonda Vishwanath   Dufour Brett   McBride Jodi L.   Mao Peizhong   Reddy P. Hemachandra  

Human Molecular Genetics, Vol. 21, Iss. 2, 2012-01 ,pp. : 406-420

Oxford University Press

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Mutant HSPB8 causes motor neuron-specific neurite degeneration

By Irobi Joy   Almeida-Souza Leonardo   Asselbergh Bob   De Winter Vicky   Goethals Sofie   Dierick Ines   Krishnan Jyothsna   Timmermans Jean-Pierre   Robberecht Wim   De Jonghe Peter   Van Den Bosch Ludo   Janssens Sophie   Timmerman Vincent  

Human Molecular Genetics, Vol. 19, Iss. 16, 2010-08 ,pp. : 3254-3265

Oxford University Press

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Ccdc66 null mutation causes retinal degeneration and dysfunction

By Gerding Wanda M.   Schreiber Sabrina   Schulte-Middelmann Tobias   de Castro Marques Andreia   Atorf Jenny   Akkad Denis A.   Dekomien Gabriele   Kremers Jan   Dermietzel Rolf   Gal Andreas   Rülicke Thomas   Ibrahim Saleh   Epplen Jörg T.   Petrasch-Parwez Elisabeth  

Human Molecular Genetics, Vol. 20, Iss. 18, 2011-09 ,pp. : 3620-3631

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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

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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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