Author
Centre National de la Recherche ScientifiqueORCID 0000-0001-9368-8657Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Mehrdad A. Estiar, Eric Yu, Parizad Varghaei…·Ziv Gan‐Or
This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.
Rui Zhu, Lang Liu, Mehrdad A. Estiar…·Ziv Gan‐Or
The paper investigates whether CPT1C loss-of-function variants cause hereditary spastic paraplegia (HSP) by analyzing genomic data from multiple cohorts and finds no causal association.
German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski
This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.
Manon Fortier, Margaux Cauhapé, Suzie Buono…·Frederic D. Darios
This study shows that reducing ganglioside synthesis delays motor and cognitive symptoms in Spg11 knockout mice and reduces axonal spheroids.