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Methods in Molecular Biology (Clifton, N.J.)|July 30, 2025
Highly Multiplexed Immunofluorescence Imaging of Mouse OocytesCyprien Noble, Typhaine Esteves, Adel Al Jord
Scientific Reports|January 18, 2025
Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopmentLiriopé Toupenet Marchesi, Daniel Stockholm, Typhaine Esteves, et al.
Molecular and Cellular Neurosciences|May 7, 2011
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegiaReena Prity Murmu, Elodie Martin, Agnès Rastetter, 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.
Human Molecular Genetics|June 19, 2015
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseJennifer Hirst, James R Edgar, Typhaine Esteves, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
Annals of Human Genetics|June 10, 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese familiesMahmoud Koko, Ashraf Yahia, Liena E Elsayed, et al.
American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.
Frontiers in Neurology|September 7, 2021
Pathogenic Variants in <i>ABHD16A</i> Cause a Novel Psychomotor Developmental Disorder With Spastic ParaplegiaAshraf Yahia, Liena E O Elsayed, Remi Valter, et al.
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
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