PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.

Autor: Musumeci A; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy., Vinci M; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy., Verbinnen I; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Herestraat 49, PO-box 901, B-3000 Leuven, Belgium., Treccarichi S; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy., Nigliato E; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Herestraat 49, PO-box 901, B-3000 Leuven, Belgium., Chiavetta V; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy., Greco D; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy., Vitello GA; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy., Federico C; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy., Janssens V; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Herestraat 49, PO-box 901, B-3000 Leuven, Belgium., Saccone S; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy. Electronic address: salvatore.saccone@unict.it., Calì F; Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018, Troina, EN, Italy.

Publikováno v: Gene [Gene] 2025 Jan 15; Vol. 933, pp. 148945. Date of Electronic Publication: 2024 Sep 14.

Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder.

Autor: Nicotera AG; Department of Human Pathology of the Adult and Developmental Age, 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Amore G; Department of Human Pathology of the Adult and Developmental Age, 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Saia MC; Department of Human Pathology of the Adult and Developmental Age, 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Vinci M; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy., Musumeci A; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy., Chiavetta V; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy., Federico C; Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124, Catania, Italy., Spoto G; Department of Biomedical Sciences, Dental Sciences and Morpho-Functional Imaging, University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Saccone S; Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124, Catania, Italy. salvatore.saccone@unict.it., Di Rosa G; Department of Biomedical Sciences, Dental Sciences and Morpho-Functional Imaging, University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Calì F; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy.

Publikováno v: Neuromolecular medicine [Neuromolecular Med] 2023 Dec; Vol. 25 (4), pp. 650-656. Date of Electronic Publication: 2023 Sep 21.

Neurofilament-light chain quantification by Simoa and Ella in plasma from patients with dementia: a comparative study.

Autor: Truffi M; Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy., Garofalo M; Molecular Biology and Transcriptomics Unit, IRCCS Mondino Foundation, 27100, Pavia, Italy., Ricciardi A; Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy., Cotta Ramusino M; Unit of Behavioral Neurology and Center for Cognitive Disorders and Dementia (CDCD), IRCCS Mondino Foundation, 27100, Pavia, Italy., Perini G; Unit of Behavioral Neurology and Center for Cognitive Disorders and Dementia (CDCD), IRCCS Mondino Foundation, 27100, Pavia, Italy., Scaranzin S; Neuroimmunology Laboratory, IRCCS Mondino Foundation, 27100, Pavia, Italy., Gastaldi M; Neuroimmunology Laboratory, IRCCS Mondino Foundation, 27100, Pavia, Italy., Albasini S; Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy., Costa A; Unit of Behavioral Neurology and Center for Cognitive Disorders and Dementia (CDCD), IRCCS Mondino Foundation, 27100, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100, Pavia, Italy., Chiavetta V; Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy., Corsi F; Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, 20157, Milan, Italy., Morasso C; Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy. carlo.morasso@icsmaugeri.it., Gagliardi S; Molecular Biology and Transcriptomics Unit, IRCCS Mondino Foundation, 27100, Pavia, Italy. stella.gagliardi@mondino.it.

Publikováno v: Scientific reports [Sci Rep] 2023 Mar 10; Vol. 13 (1), pp. 4041. Date of Electronic Publication: 2023 Mar 10.

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

Autor: Vinci M; Oasi Research Institute-IRCCS, Troina, Italy., Kursula P; Department of Biomedicine, University of Bergen, Bergen, Norway.; Biocenter Oulu & Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Elia M; Oasi Research Institute-IRCCS, Troina, Italy., Vetri L; Oasi Research Institute-IRCCS, Troina, Italy., Schepis C; Oasi Research Institute-IRCCS, Troina, Italy., Chiavetta V; Oasi Research Institute-IRCCS, Troina, Italy., Donadio S; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy., Roccella M; Department of Psychology, Educational Science and Human Movement, University of Palermo, Palermo, Italy., Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Romano V; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Calì F; Oasi Research Institute-IRCCS, Troina, Italy.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Sep; Vol. 10 (9), pp. e2012. Date of Electronic Publication: 2022 Jul 05.

Analisi MLPA del gene CREB-binding protein (CREBBP) in un paziente con la sindrome di Rubinstein Taybi

Autor: Calì, F, Failla, P, Chiavetta, V, Ragalmuto, A, Ruggeri, G, Schinocca, P, Schepis, C, Romano, C., ROMANO, Valentino

La sindrome di Rubinstein-Taybi è una rara malattia congenita autosomica dominante caratterizzata da ritardo della crescita postnatale, ritardo dello sviluppo psicomotorio, anomalie scheletriche, peculiare morfologia facciale ed un aumento del risch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::3f7c1e6df6d341104b958564ac37143e
http://hdl.handle.net/10447/108704