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| Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia RP Murmu, E Martin, A Rastetter, T Esteves, MP Muriel, KH El Hachimi, ... Molecular and Cellular Neuroscience 47 (3), 191-202, 2011 | 102 | 2011 |
| Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease J Hirst, JR Edgar, T Esteves, F Darios, M Madeo, J Chang, RH Roda, ... Human molecular genetics 24 (17), 4984-4996, 2015 | 91 | 2015 |
| Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia A Yahia, LEO Elsayed, R Valter, AAA Hamed, IN Mohammed, MA Elseed, ... Frontiers in Neurology 12, 720201, 2021 | 10 | 2021 |
| An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous … M Koko, A Yahia, LE Elsayed, AA Hamed, IN Mohammed, MA Elseed, ... Annals of Human Genetics 85 (5), 186-195, 2021 | 6 | 2021 |
| The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 L Parodi, M Barbier, M Jacoupy, C Pujol, FX Lejeune, P Lallemant-Dudek, ... Genetics in Medicine 24 (11), 2308-2317, 2022 | 2 | 2022 |
| Dominant negative heterozygous mutation in Erlin2 prevents degradation of IP3 receptors and is responsible for hereditary spastic paraplegia 37 G Stevanin, A Rastetter, T Esteves, S Hanein, C Depienne, A Brice, A Durr, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1435-1436, 2019 | 2 | 2019 |
| Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment L Toupenet Marchesi, D Stockholm, T Esteves, M Leblanc, N Auger, ... Scientific Reports 15 (1), 2370, 2025 | | 2025 |
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