Sylvie Forlani
Paris, France
Last Updated: 09/26/2026
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Found 38 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
Journal: Cell
Published: March 07, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 29, 2024
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 18, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Journal: EBioMedicine
Published: October 02, 2023
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: June 24, 2023
New class of RNA biomarker for endometriosis diagnosis: The potential of salivary piRNA expression.
Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: April 17, 2023
Modifications of the endosomal compartment in fibroblasts from sporadic Alzheimer's disease patients are associated with cognitive impairment.
Journal: Translational psychiatry
Published: February 23, 2022
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 19, 2021
Last Updated: 09/26/2026