Maria Marchese
0000-0002-0194-0702
IRCCS Fondazione Stella Maris
29 papers found
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Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia
Understanding Spreading Depression from Headache to Sudden Unexpected Death
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with Macrocephaly
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia
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