A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

By Matsui M.   Kawarai T.   Hase Y.   Tomimoto H.   Iseki K.   Rogaeva E.   Orlacchio A.   Bernardi G.   George-Hyslop P.   Takahashi R.   Matsui M.  

Journal of Neurology, Vol. 254, Iss. 7, 2007-07 ,pp. : 972-974

Springer Publishing Company

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A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

By Hansen J.   Svenstrup K.   Ang D.   Nielsen M.   Christensen J.   Gregersen N.   Nielsen J.   Georgopoulos C.   Bross P.  

Journal of Neurology, Vol. 254, Iss. 7, 2007-07 ,pp. : 897-900

Springer Publishing Company

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Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

By Bot Susanne   Vermeer Sascha   Buijsman Wendy   Heister Angelien   Voorendt Marsha   Verrips Aad   Scheffer Hans   Kremer Hubertus   Warrenburg Bart   Kamsteeg Erik-Jan  

Journal of Neurology, Vol. 260, Iss. 7, 2013-07 ,pp. : 1765-1769

Springer Publishing Company

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Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

By Svenson Ingrid   Kloos Mark   Gaskell P.   Nance Martha   Garbern James   Hisanaga Shin-ichi   Pericak-Vance Margaret   Ashley-Koch Allison   Marchuk Douglas  

Neurogenetics, Vol. 5, Iss. 3, 2004-09 ,pp. : 157-164

Springer Publishing Company

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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

By Orthmann-Murphy Jennifer L.   Salsano Ettore   Abrams Charles K.   Bizzi Alberto   Uziel Graziella   Freidin Mona M.   Lamantea Eleonora   Zeviani Massimo   Scherer Steven S.   Pareyson Davide  

Brain, Vol. 132, Iss. 2, 2009-02 ,pp. : 426-438

Oxford University Press

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