Sylvie Friant

Affiliations: 
Génétique Moléculaire, Génomique et Microbiologie Université de Strasbourg 
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"Sylvie Friant"
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Enkler L, Rinaldi B, de Craene JO, et al. (2021) Cex1 is a component of the COPI intracellular trafficking machinery. Biology Open. 10
Castro CN, Rosenzwajg M, Carapito R, et al. (2020) NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation. The Journal of Experimental Medicine. 217
Bader G, Enkler L, Araiso Y, et al. (2020) Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP. Elife. 9
Kröll-Hermi A, Ebstein F, Stoetzel C, et al. (2020) Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. Embo Molecular Medicine. e11861
Doummar D, Dentel C, Lyautey R, et al. (2020) Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. European Journal of Human Genetics : Ejhg
Laugel-Haushalter V, Bär S, Schaefer E, et al. (2019) A New Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. Frontiers in Genetics. 10: 504
Scheidecker S, Bär S, Stoetzel C, et al. (2019) Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Human Mutation
Sainio MT, Välipakka S, Rinaldi B, et al. (2018) Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. Journal of Neurology
Geoffroy V, Stoetzel C, Scheidecker S, et al. (2018) Whole genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Human Mutation
Cowling BS, Prokic I, Tasfaout H, et al. (2017) Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. The Journal of Clinical Investigation
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