Sylviane Marouillat
Université de Tours(FR)Inserm(FR)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research, Ubiquitin and proteasome pathways, Autism Spectrum Disorder Research
Most-Cited Works
- → Cell lines with extended in vitro growth potential from human renal proximal tubule: Characterization, response to inducers, and comparison with established cell lines(1997)234 cited
- → ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity(2013)90 cited
- → Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse(2017)86 cited
- → Association study of the NF1 gene and autistic disorder(1999)81 cited
- → Wildtype motoneurons, ALS‐Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling(2017)74 cited
- → Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration(2018)73 cited
- → Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism(2016)48 cited
- → The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration(2022)42 cited
- → Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems(2015)42 cited
- → Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities(2021)41 cited