Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Federico, Sicca"'
Autor:
Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 584-589 (2020)
Abstract Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP‐4). Using next‐generation sequencing, we identified three novel unrelated SPG52 patients fro
Externí odkaz:
https://doaj.org/article/e705ad72625a42b6bdc07ccec9f43a7e
Autor:
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 595-601 (2020)
Abstract Mutations in the ATPase family 3‐like gene (AFG3L2) have been linked to autosomal‐dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia‐neuropathy syndrome. Here, we describe the case of a child carrying bi‐a
Externí odkaz:
https://doaj.org/article/495630dc4a8a498f8790a277216d2f4e
Publikováno v:
Cells, Vol 10, Iss 10, p 2628 (2021)
A serotonergic dysfunction has been largely postulated as the main cause of depression, mainly due to its effective response to drugs that increase the serotonergic tone, still currently the first therapeutic line in this mood disorder. However, othe
Externí odkaz:
https://doaj.org/article/1f4ee29883c3483189e4c2d2d591e277
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2019)
Impairments of the dialog between excitation and inhibition (E/I) is commonly associated to neuropsychiatric disorders like autism, bipolar disorders and epilepsy. Moderate levels of hyperexcitability can lead to mild alterations of the EEG and are o
Externí odkaz:
https://doaj.org/article/5cc4611a63944b838cf623ae54b8ae5d
Autor:
Olga Cozzolino, Federico Sicca, Emanuele Paoli, Francesco Trovato, Filippo M. Santorelli, Gian Michele Ratto, Maria Marchese
Publikováno v:
Cells, Vol 9, Iss 3, p 769 (2020)
The study of sources and spatiotemporal evolution of ictal bursts is critical for the mechanistic understanding of epilepsy and for the validation of anti-epileptic drugs. Zebrafish is a powerful vertebrate model representing an excellent compromise
Externí odkaz:
https://doaj.org/article/b29ba87c4c2448bcada5163f814ab200
Autor:
Olga Cozzolino, Maria Marchese, Francesco Trovato, Enrico Pracucci, Gian Michele Ratto, Maria Gabriella Buzzi, Federico Sicca, Filippo M. Santorelli
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Spreading depression (SD) is a neurophysiological phenomenon characterized by abrupt changes in intracellular ion gradients and sustained depolarization of neurons. It leads to loss of electrical activity, changes in the synaptic architecture, and an
Externí odkaz:
https://doaj.org/article/9a7f775efd6b4b0183f20a0345af5455
Publikováno v:
Seizure. 91:425-436
Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent its onset and main manifestation, even in the absence of overt muscle involvement. To date, there is no systematic characterization of epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7419ed165e681fcc6bed7ddc75e9b40
https://doi.org/10.1016/j.seizure.2021.07.020
https://doi.org/10.1016/j.seizure.2021.07.020
Autor:
Alessio Fasano, Carlo Biancardi, Gabriele Masi, Stefania Della Vecchia, Paolo Frumento, Alberto Mazzoni, Egidio Falotico, Ugo Faraguna, Federico Sicca
Background Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heterogeneous diagnostic category, encompassing several endophenotypes and comorbidities, including sleep problems. However, no predictor of clinical long-term trajectories or com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb767a8ebc5e630823eb470337b61cf
https://zenodo.org/record/7704592
https://zenodo.org/record/7704592
Autor:
Stefania Della Vecchia, Asahi Ogi, Rosario Licitra, Francesca Abramo, Gabriele Nardi, Serena Mero, Silvia Landi, Roberta Battini, Federico Sicca, Gian Michele Ratto, Filippo Maria Santorelli, Maria Marchese
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 12; Pages: 6874
Mutations in the EPM2A gene encoding laforin cause Lafora disease (LD), a progressive myoclonic epilepsy characterized by drug-resistant seizures and progressive neurological impairment. To date, rodents are the only available models for studying LD;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a85732ec50d591aa855d144c483a22fb
Autor:
Brian P Grone, Maria Marchese, Kyla R Hamling, Maneesh G Kumar, Christopher S Krasniak, Federico Sicca, Filippo M Santorelli, Manisha Patel, Scott C Baraban
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0151148 (2016)
Mutations in the synaptic machinery gene syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to childhood epilepsies and other neurodevelopmental disorders. Zebrafish STXBP1 homologs (stxbp1a and stxbp1b) have highly conserved seq
Externí odkaz:
https://doaj.org/article/19ac1df334b24843b09c716bf5603e9e