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Select item 41052561.

Motor protein mutations cause a new form of hereditary spastic paraplegia

Andrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, Tobias Lindig, Jennifer Reichbauer, Adriana P. Rebelo, Michael A. Gonzalez, Yasar Zorlu, Burcak Ozes, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Ludger Schöls, Rebecca Schüle

Neurology. 2014 Jun 3; 82(22): 2007–2016. doi: 10.1212/WNL.0000000000000479

PMCID:: PMC4105256

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Select item 30733762.

Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum

Alice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, Jennifer Silhavy, Stephanie L. Bielas, Shifteh Sattar, Joseph G. Gleeson, Maha Zaki

Eur J Med Genet. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Eur J Med Genet. 2011 Jan–Feb; 54(1): 82–85. Published online 2010 Nov 12. doi: 10.1016/j.ejmg.2010.10.006

PMCID:: PMC3073376

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Select item 24271843.

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin

Am J Hum Genet. 2008 Apr 11; 82(4): 992–1002. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.03.004