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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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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Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24

By Nielsen Jørgen E.   Koefoed Pernille   Abell Kathrine   Hasholt Lis   Eiberg Hans   Fenger Kirsten   Niebuhr Erik   Sørensen Sven Asger  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1811-1816

Oxford University Press

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Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

By Errico A.   Ballabio A.   Rugarli E.I.  

Human Molecular Genetics, Vol. 11, Iss. 2, 2002-01 ,pp. : 153-163

Oxford University Press

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Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

By Du Fang   Ozdowski Emily F.   Kotowski Ingrid K.   Marchuk Douglas A.   Sherwood Nina Tang  

Human Molecular Genetics, Vol. 19, Iss. 10, 2010-05 ,pp. : 1883-1896

Oxford University Press

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