Evaluation of loss of function as an explanation for SPG4 -based hereditary spastic paraplegia

By Solowska Joanna M.   Garbern James Y.   Baas Peter W.  

Human Molecular Genetics, Vol. 19, Iss. 14, 2010-07 ,pp. : 2767-2779

Oxford University Press

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

By Fonknechten Nùria  

Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 637-644

Oxford University Press

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

By Fonknechten Nùria   Mavel Delphine   Byrne Paula   Davoine Claire-Sophie   Cruaud Corinne   Bönsch Dominikus   Samson Delphine   Coutinho Paula   Hutchinson Michael   McMonagle Paul   Burgunder Jean-Marc   Tartaglione Antonio   Heinzlef Olivier   Feki Imed   Deufel Thomas   Parfrey Nollaig   Brice Alexis   Fontaine Bertrand   Prud'homme Jean-François   Weissenbach Jean   Dürr Alexandra   Hazan Jamilé  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 461-461

Oxford University Press

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A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis

By Kitzmller Claudia   Haines Rebecca L.   Codlin Sandra   Cutler Daniel F.   Mole Sara E.  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 303-312

Oxford University Press

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SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

By Zhu Peng-Peng   Soderblom Cynthia   Tao-Cheng Jung-Hwa   Stadler Julia   Blackstone Craig  

Human Molecular Genetics, Vol. 15, Iss. 8, 2006-04 ,pp. : 1343-1353

Oxford University Press

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