Epilepsy, behavioral abnormalities, and physiological comorbidities in syntaxin-binding protein 1 (STXBP1) mutant zebrafish BP Grone, M Marchese, KR Hamling, MG Kumar, CS Krasniak, F Sicca, ... PLoS one 11 (3), e0151148, 2016 | 109 | 2016 |
Genetically induced dysfunctions of Kir2. 1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype E Ambrosini, F Sicca, MS Brignone, MC D'adamo, C Napolitano, ... Human Molecular Genetics 23 (18), 4875-4886, 2014 | 87 | 2014 |
Understanding spreading depression from headache to sudden unexpected death O Cozzolino, M Marchese, F Trovato, E Pracucci, GM Ratto, MG Buzzi, ... Frontiers in neurology 9, 19, 2018 | 85 | 2018 |
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy F Sicca, E Ambrosini, M Marchese, L Sforna, I Servettini, G Valvo, ... Scientific Reports 6 (1), 34325, 2016 | 76 | 2016 |
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening M Marchese, V Conti, G Valvo, F Moro, F Muratori, R Tancredi, ... BMC medical genetics 15, 1-7, 2014 | 69 | 2014 |
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly M Di Nottia, M Marchese, D Verrigni, CD Mutti, A Torraco, R Oliva, ... Neurobiology of Disease 141, 104880, 2020 | 38 | 2020 |
Targeted Gene Resequencing (Astrochip) to explore the tripartite synapse in autism–epilepsy phenotype with macrocephaly M Marchese, G Valvo, F Moro, F Sicca, FM Santorelli Neuromolecular medicine 18 (1), 69-80, 2016 | 31 | 2016 |
Fishing in the cell powerhouse: zebrafish as a tool for exploration of mitochondrial defects affecting the nervous system G Fichi, V Naef, A Barca, G Longo, B Fronte, T Verri, FM Santorelli, ... International journal of molecular sciences 20 (10), 2409, 2019 | 22 | 2019 |
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52 A D’Amore, A Tessa, V Naef, MT Bassi, A Citterio, R Romaniello, G Fichi, ... Annals of Clinical and Translational Neurology 7 (4), 584-589, 2020 | 21 | 2020 |
Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging O Cozzolino, F Sicca, E Paoli, F Trovato, FM Santorelli, GM Ratto, ... Cells 9 (3), 769, 2020 | 21 | 2020 |
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan M Marchese, A Pappalardo, J Baldacci, T Verri, S Doccini, D Cassandrini, ... Biochemical and biophysical research communications 477 (1), 137-143, 2016 | 21 | 2016 |
Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia V Naef, S Mero, G Fichi, A D'Amore, A Ogi, F Gemignani, FM Santorelli, ... Frontiers in Neuroscience 13, 1311, 2019 | 16 | 2019 |
Distal motor neuropathy associated with novel EMILIN1 mutation M Iacomino, R Doliana, M Marchese, A Capuano, P Striano, P Spessotto, ... Neurobiology of Disease 137, 104757, 2020 | 9 | 2020 |
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia C Fiorillo, F Moro, G Astrea, MA Morales, J Baldacci, M Marchese, ... Neuromuscular Disorders 23 (12), 1010-1015, 2013 | 9 | 2013 |