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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionStephan Klebe, Alexandra Durr, Naima Bouslam, et al.
Neurogenetics|January 29, 2014
Partial deletions of the GRN gene are a cause of frontotemporal lobar degenerationFabienne Clot, Anne Rovelet-Lecrux, Foudil Lamari, et al.
Neurobiology of Aging|October 18, 2015
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohortsIsabelle Le Ber, Anne De Septenville, Stéphanie Millecamps, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
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|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.
American Journal of Medical Genetics|July 13, 2002
Complex relationship between Parkin mutations and Parkinson diseaseAndrew West, Magali Periquet, Sarah Lincoln, 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.
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