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Maria Marchese
Maria Marchese
IRCCS Fondazione Stella Maris, University of Pisa
Bestätigte E-Mail-Adresse bei fsm.unipi.it
Titel
Zitiert von
Zitiert von
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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
1022016
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
762014
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
702016
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
682014
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, 333507, 2018
662018
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
302020
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
292016
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
182019
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
182016
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
172020
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
162020
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
142019
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
92013
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
62020
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