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Brain : a Journal of Neurology|November 27, 2018
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sexLivia Parodi, Silvia Fenu, Mathieu Barbier, et al.Neurobiology of Disease|August 7, 2003
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseasesJunko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, et al.Neurology|January 23, 2015
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegiaAlexander Lossos, Claudia Stümpfig, Giovanni Stevanin, et al.BMC Neurology|October 25, 2018
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case reportAshraf Yahia, Liena Elsayed, Arwa Babai, et al.Neurology. Genetics|February 12, 2020
Spastic paraplegia due to recessive or dominant mutations in <i>ERLIN2</i> can convert to ALSMaria-Del-Mar Amador, François Muratet, Elisa Teyssou, et al.Neurobiology of Disease|February 27, 2017
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationJulien Branchu, Maxime Boutry, Laura Sourd, et al.Neurogenetics|May 4, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesClaudia Dufke, Nina Schlipf, Rebecca Schüle, et al.Human Molecular Genetics|September 25, 2012
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insultKatherine E Hekman, Guo-Yun Yu, Christopher D Brown, et al.JAMA Neurology|February 13, 2013
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese surveyJosé Leal Loureiro, Eva Brandão, Luis Ruano, et al.Annals of Neurology|September 30, 2005
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14Stephan Klebe, Alexandra Durr, Alexander Rentschler, et al.Pageof 19