Concepedia

Marialuisa Valente

MV

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Publications

8

Citations

446

H-Index

8

Active since

2016

Affiliations

University of Pavia(Current)

Center for Genomic Science

Ospedale dei Bambini Vittore Buzzi

University of Brescia

Istituti di Ricovero e Cura a Carattere Scientifico

Marialuisa Valente is an author at University of Pavia specializing in medicine, pathology, and gene expression.

ORCID

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Publications per year

2016–2021

8

Publications

8

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti, Alice Lepelley, Marine Depp et al. · Nature Genetics · 2020 · 185 citations · Full text

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The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas et al. · Epilepsia · 2019 · 92 citations · Full text

Overall cognitive profiles in patients with <scp>GLUT</scp>1 Deficiency Syndrome

Valentina De Giorgis, Silvia Masnada, Costanza Varesio et al. · Brain and Behavior · 2019 · 59 citations · Full text

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Jessica Garau, Vanessa Cavallera, Marialuisa Valente et al. · Journal of Clinical Medicine · 2019 · 43 citations · Full text

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome

Massimiliano Filosto, Stefano Cotti Piccinelli, Ilaria Palmieri et al. · Journal of Clinical Medicine · 2018 · 28 citations · Full text

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