Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Sebastiano A. Musumeci"'
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, Vol 23, Iss 24, p 16130 (2022)
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://doaj.org/article/776a5bd6e6744c8c986d807fb5fcc163
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
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
Autor:
Gabriella Di Rosa, Sebastiano A. Musumeci, Antonino Musumeci, Rita Barone, Francesco Calì, Antonio Gennaro Nicotera, Giulia Spoto, Agata Fiumara, Mirella Vinci, Giusi Romeo
Publikováno v:
Molecular Syndromology. 12:327-332
Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, f
Autor:
Maria Vincenza Catania, Randi J Hagerman, Stefania Giusto, Antonio Gennaro Nicotera, Serafino Buono, Giuseppina Di Vita, Santo Di Nuovo, Sebastiano A. Musumeci, Emanuela Stracuzzi, Elisa Maria Liprino
Publikováno v:
Journal of autism and developmental disorders 49 (2019): 2337–2347. doi:10.1007/s10803-019-03908-2
info:cnr-pdr/source/autori:Nicotera AG; Hagerman RJ; Catania MV; Buono S; Di Nuovo S; Liprino EM.; Stracuzzi E; Giusto S; Di Vita G; Musumeci SA;/titolo:EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study/doi:10.1007%2Fs10803-019-03908-2/rivista:Journal of autism and developmental disorders/anno:2019/pagina_da:2337/pagina_a:2347/intervallo_pagine:2337–2347/volume:49
info:cnr-pdr/source/autori:Nicotera AG; Hagerman RJ; Catania MV; Buono S; Di Nuovo S; Liprino EM.; Stracuzzi E; Giusto S; Di Vita G; Musumeci SA;/titolo:EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study/doi:10.1007%2Fs10803-019-03908-2/rivista:Journal of autism and developmental disorders/anno:2019/pagina_da:2337/pagina_a:2347/intervallo_pagine:2337–2347/volume:49
To date, the phenotypic significance of EEG abnormalities in patients with ASD is unclear. In a population affected by ASD we aimed to evaluate: the phenotypic characteristics; the prevalence of EEG abnormalities; the potential correlations between E
Autor:
Lakshmi Pillai-Kastoori, Wen Wen, Stephen G Wilson, Erin Strachan, Adriana Lo-Castro, Marco Fichera, Sebastiano A Musumeci, Ordan J Lehmann, Ann C Morris
Publikováno v:
PLoS Genetics, Vol 10, Iss 7, p e1004491 (2014)
Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog s
Externí odkaz:
https://doaj.org/article/5f30ed6aa6124f9aa7e1fe5f87cabb6a
Autor:
Girolamo Aurelio Vitello, Sebastiano A. Musumeci, Mirella Vinci, Francesco Calì, Marco Fichera
Publikováno v:
Journal of Genetics. 97:1469-1472
Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene fou
Autor:
Filippo Drago, Maria Vincenza Catania, Michela Spatuzza, Barbara Bardoni, Sebastiano A. Musumeci, Carmela M. Bonaccorso, Simona D'Antoni, P. Dell'Albani, B. Di Marco
Publikováno v:
Neurobiology of disease 154 (2021). doi:10.1016/j.nbd.2021.105338
info:cnr-pdr/source/autori:Di Marco B.; Dell'Albani P.; D'Antoni S.; Spatuzza M.; Bonaccorso C.M.; Musumeci S.A.; Drago F.; Bardoni B.; Catania M.V./titolo:Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes/doi:10.1016%2Fj.nbd.2021.105338/rivista:Neurobiology of disease/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:154
Neurobiology of Disease, Vol 154, Iss, Pp 105338-(2021)
info:cnr-pdr/source/autori:Di Marco B.; Dell'Albani P.; D'Antoni S.; Spatuzza M.; Bonaccorso C.M.; Musumeci S.A.; Drago F.; Bardoni B.; Catania M.V./titolo:Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes/doi:10.1016%2Fj.nbd.2021.105338/rivista:Neurobiology of disease/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:154
Neurobiology of Disease, Vol 154, Iss, Pp 105338-(2021)
Fragile X syndrome (FXS) is a common form of intellectual disability and autism caused by the lack of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA transport and protein synthesis. Upon cellular stress, global pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dec0b289ba02fb2d2045b87d57a7297
http://www.scopus.com/record/display.url?eid=2-s2.0-85103621549&origin=inward
http://www.scopus.com/record/display.url?eid=2-s2.0-85103621549&origin=inward
Autor:
Donatella Greco, Girolamo Aurelio Vitello, Maurizio Elia, Giusi Romeo, Luigi Vetri, Sebastiano A. Musumeci, Catalda Gagliano, Maria Cristina Costanzo
Publikováno v:
Perspectives in Psychiatric Care. 57:1536-1537
Autor:
Maria Cristina, Costanzo, Antonio Gennaro, Nicotera, Mirella, Vinci, Aurelio, Vitello, Agata, Fiumara, Francesco, Calì, Sebastiano Antonino, Musumeci
Publikováno v:
Journal of genetics. 99
Niemann-Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the