Concepedia

Maria Marchese

MM

20

Publications

653

Citations

16

H-Index

2014

Active since

Affiliations

Fondazione Stella Maris(Current)

University of Pisa

Istituti di Ricovero e Cura a Carattere Scientifico

Istituto di Fisiologia Clinica

Istituto Nanoscienze

Maria Marchese is an author at Fondazione Stella Maris specializing in medicine, developmental biology, and neurogenetics.

ORCID

Top concepts

Publications per year

2014–2024

20

Publications

20

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish

Brian P. Grone, Maria Marchese, Kyla R. Hamling et al. · PLoS ONE · 2016 · 100 citations · Full text

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Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

Elena Ambrosini, Federico Sicca, Maria Stefania Brignone et al. · Human Molecular Genetics · 2014 · 83 citations · Full text

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

Federico Sicca, Elena Ambrosini, Maria Marchese et al. · Scientific Reports · 2016 · 71 citations · Full text

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

Maria Marchese, Valerio Conti, Giulia Valvo et al. · BMC Medical Genetics · 2014 · 61 citations · Full text

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

Michela Di Nottia, Maria Marchese, Daniela Verrigni et al. · Neurobiology of Disease · 2020 · 47 citations · Full text

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