Marialuisa Valente
Ospedale SS. Annunziata(IT)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Migraine and Headache Studies, Amyotrophic Lateral Sclerosis Research, Neurological disorders and treatments
Most-Cited Works
- → cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing(2020)188 cited
- → The spectrum of intermediate SCN8A‐related epilepsy(2019)92 cited
- → Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome(2019)63 cited
- → Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review(2019)43 cited
- → Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency(2020)32 cited
- → A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome(2018)28 cited
- → Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management(2016)16 cited
- → Sine causa tetraparesis(2018)12 cited
- → PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype(2021)11 cited
- → De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report(2017)9 cited