Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Sebastiano Antonino Musumeci"'
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Akademický článek
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
Autor: Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera
Publikováno v: Biomedicines, Vol 10, Iss 9, p 2276 (2022)
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_0070
Externí odkaz: https://doaj.org/article/1a2fd868c75a424aa70373f81358cae5
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2
Akademický článek
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
Autor: Antonio Gennaro Nicotera, Gabriella Di Rosa, Laura Turriziani, Maria Cristina Costanzo, Emanuela Stracuzzi, Girolamo Aurelio Vitello, Rosanna Galati Rando, Antonino Musumeci, Mirella Vinci, Sebastiano Antonino Musumeci, Francesco Calì
Publikováno v: Brain Sciences, Vol 11, Iss 10, p 1293 (2021)
Antipsychotics (APDs) represent the main pharmacological strategy in the treatment of schizophrenia; however, their administration often may result in severe adverse effects, such as extrapyramidal symptoms. Typically, dystonic movements are consider
Externí odkaz: https://doaj.org/article/22415b30dd41472d867ccb25969f9b69
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3
PHF21A Related Disorder: Description of a New Case
Autor: Ambra Butera, Antonio Gennaro Nicotera, Gabriella Di Rosa, Sebastiano Antonino Musumeci, Girolamo Aurelio Vitello, Antonino Musumeci, Mirella Vinci, Angelo Gloria, Concetta Federico, Salvatore Saccone, Francesco Calì
Publikováno v: International Journal of Molecular Sciences. 23:16130
PHF21A (PHD finger protein 21A) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the human fetal brain and sk
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b38700d632c9359cd1fbdaad22198d2
https://doi.org/10.3390/ijms232416130
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5
Novel c.C2254T (p.Q752*) mutation in
Autor: Mirella, Vinci, Marco, Fchera, Sebastiano, Antonino Musumeci, Francesco, Cali, Girolamo, Aurelio Vitello
Publikováno v: Journal of genetics. 97(5)
Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7f4bb5fd02893012668f37dfe03b6cd2
https://pubmed.ncbi.nlm.nih.gov/30555096
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7
Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism
Autor: Carmela Maria Bonaccorso, Michela Spatuzza, Maria Vincenza Catania, Ferdinando Nicoletti, Lucia Ciranna, Ferdinando NICOLETTI, Simona D'Antoni, Sebastiano Antonino Musumeci, Kimberly Huber
Publikováno v: Neuroscience and biobehavioral reviews 46 (2014): 228–241. doi:10.1016/j.neubiorev.2014.02.003
info:cnr-pdr/source/autori:D'Antoni S.; Spatuzza M.; Bonaccorso C.M.; Musumeci S.A.; Ciranna L.; Nicoletti F.; Huber K.M.; Catania M.V./titolo:Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism/doi:10.1016%2Fj.neubiorev.2014.02.003/rivista:Neuroscience and biobehavioral reviews/anno:2014/pagina_da:228/pagina_a:241/intervallo_pagine:228–241/volume:46
Activation of group-I metabotropic glutamate receptors, mGlu1 and mGlu5, triggers a variety of signalling pathways in neurons and glial cells, which are differently implicated in synaptic plasticity. The earliest and much of key studies discovered ab
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a37288a356fb463dd6bffb7e7975df
https://doi.org/10.1016/j.neubiorev.2014.02.003
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8
Giant somatosensory evoked potentials : scalp topography and dipole modelling
Autor: Ragazzoni, A., Ferri, R., Di Russo, F., Del Gracco, S., Elia, M., Sebastiano Antonino Musumeci, Spagli, Pm, Navona, C.
Publikováno v: Abtract of European congress of psychophysiology : may 28-31 1997, University of Kostanz, German, Kostanz, 28-31/05/1997
info:cnr-pdr/source/autori:Ragazzoni A.; Ferri R.; Di Russo F.; Del Gracco S.; Elia M.; Musumeci S.; Spagli P.; Navona C./congresso_nome:Abtract of European congress of psychophysiology : may 28-31 1997, University of Kostanz, German/congresso_luogo:Kostanz/congresso_data:28-31%2F05%2F1997/anno:1997/pagina_da:/pagina_a:/intervallo_pagine
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The abnormally large somatosensory evoked potentials (giant SEPs) observed in a variety of pathological conditions, reflect a primary or secondary hyperexcitability of sensorimonitor cortex. Giant SEPs observed in cortical myoclonus result from an ex
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8e3685721f87e592a2b4119fa9a7b7cb
http://www.cnr.it/prodotto/i/409490
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