Search Results - "MUSUMECI, S. A"

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy by ELIA, M, FALCO, M, FERRI, R, SPALLETTA, A, BOTTITTA, M, CALABRESE, G, CAROTENUTO, M, MUSUMECI, S. A, LO GIUDICE, M, FICHERA, M

“…To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that…”
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Epilepsy and EEG Findings in Males with Fragile X Syndrome by Musumeci, S. A., Hagerman, R. J., Ferri, R., Bosco, P., Bernardina, B. Dalla, Tassinari, C. A., Sarro, G. B., Elia, M.

“…Purpose and Methods: One hundred and ninety‐two fragile X male patients were investigated for seizures and EEG findings, 168 in a retrospective and 24 in…”
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Object recognition impairment in Fmr1 knockout mice is reversed by amphetamine: involvement of dopamine in the medial prefrontal cortex by Ventura, R, Pascucci, T, Catania, M V, Musumeci, S A, Puglisi-Allegra, S

“…Fragile X syndrome is an X-linked form of mental retardation including, among others, symptoms such as stereotypic behaviour, hyperactivity, hyperarousal, and…”
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Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome by Musumeci, Sebastiano A., Bosco, Paolo, Calabrese, Giuseppe, Bakker, Cathy, Sarro, Giovanni B., Elia, Maurizio, Ferri, Raffaele, Oostra, Ben A.

“…Purpose: To evaluate their susceptibility to audiogenie seizures, five groups of knockout mice with various forms of fragile X genetic involvement [hemizygous…”
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Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations by Scuderi, C, Fichera, M, Calabrese, G, Elia, M, Amato, C, Savio, M, Borgione, E, Vitello, G A, Musumeci, S A

“…Background:Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary…”
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Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes by Di Marco, B., Dell'Albani, P., D'Antoni, S., Spatuzza, M., Bonaccorso, C.M., Musumeci, S.A., Drago, F., Bardoni, B., Catania, M.V.

“…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…”
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Sleep in subjects with autistic disorder: a neurophysiological and psychological study by Elia, Maurizio, Ferri, Raffaele, Musumeci, Sebastiano A, Del Gracco, Stefano, Bottitta, Maria, Scuderi, Carmela, Miano, Giuseppe, Panerai, Simonetta, Bertrand, Thierry, Grubar, Jean-Claude

“…Polysomnography (EOG, EEG, EMG) was carried out in 17 male children and adolescents with autistic disorder, in seven patients with mental retardation and…”
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Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development by Bonaccorso, C.M., Spatuzza, M., Di Marco, B., Gloria, A., Barrancotto, G., Cupo, A., Musumeci, S.A., D’Antoni, S., Bardoni, B., Catania, M.V.

“…•Levels of FXR proteins in mouse brain are high in the first/second post-natal week.•Levels of FXR proteins gradually decrease after the first/second…”
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes by Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.

“…Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with…”
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The time course of high-frequency bands (15–45 Hz) in all-night spectral analysis of sleep EEG by Ferri, Raffaele, Elia, Maurizio, Musumeci, Sebastiano A, Pettinato, Salvatore

“…Objective: The EEG spectral content of all-night sleep recordings obtained in 7 healthy young subjects, aged 18–20 years, including frequencies up to 45 Hz,…”
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Clinical Correlates of Brain Morphometric Features of Subjects With Low-Functioning Autistic Disorder by Elia, Maurizio, Ferri, Raffaele, Musumeci, Sebastiano A., Panerai, Simonetta, Bottitta, Maria, Scuderi, Carmela

“…Numerous neuropathologic and imaging studies have reported different structural abnormalities in the brains of autistic subjects. However, whether or not the…”
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Myoclonic Absence‐Like Seizures and Chromosome Abnormality Syndromes by Elia, Maurizio, Guerrini, Renzo, Musumeci, Sebastiano A., Bonanni, Paolo, Gambardella, Antonio, Aguglia, Umberto

“…Purpose: We explored the relationship between myoclonic absence seizures (MAS) and underlying chromosome disorders. Methods: Among 14 patients with MAS…”
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Age-related changes of cortical excitability in subjects with sleep-enhanced centrotemporal spikes: a somatosensory evoked potential study by Ferri, Raffaele, Del Gracco, Stefano, Elia, Maurizio, Musumeci, Sebastiano A.

“…Middle-latency somatosensory evoked potentials (SEPs) of particularly large amplitude (giant) have been reported in subjects with benign childhood epilepsy…”
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Topiramate potentiates the antiseizure activity of some anticonvulsants in DBA/2 mice by De Sarro, Giovambattista, Gratteri, Santo, Bonacci, Federico, Musumeci, Sebastiano A, Elia, Maurizio, De Sarro, Angela

“…Topiramate (1–50 mg/kg, intraperitoneally (i.p.)) was able to antagonize audiogenic seizures in DBA/2 mice in a dose-dependent manner. Topiramate at dose of…”
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Eyelid myoclonia with absences in three subjects with mental retardation by Scuderi, C, Musumeci, S A, Ferri, R, Calabrese, G, Elia, M

“…Eyelid myoclonia with absences is a rare epileptic syndrome, characterized by eyelid myoclonia, absences, and photosensitivity. On the basis of its clinical…”
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Does a peculiar EEG pattern exist also for FRAXE mental retardation? by Musumeci, Sebastiano A, Scuderi, Carmela, Ferri, Raffaele, Anello, Guido, Salluzzo, Roberto, Bosco, Paolo, Elia, Maurizio

“…Objective: FRAXE mental retardation, a recently identified rare genetic condition, is due to a mutation of the FMR2 gene, located at Xq28 region. The phenotype…”
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Scalp topographic mapping of middle-latency somatosensory evoked potentials in normal aging and dementia by Ferri, R, Del Gracco, S, Elia, M, Musumeci, S.A., Spada, R, Stefanini, M.C.

“…Middle-latency somatosensory evoked potentials (MLSEPs) were recorded in four groups of subjects: 13 normal young controls (mean age, 17.9 years), 11 normal…”
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Somatosensory Evoked Potentials in Patients Affected by Unilateral Cerebrovascular Lesions With Onset During the Perinatal Period or Adulthood by Ferri, Raffaele, Elia, Maurizio, Musumeci, Sebastiano A., Cosentino, Filomena I.I., Roccasalva, Giuseppe, Spada, Rosario S., Toscano, Giuseppe

“…Unilateral cerebrovascular lesions occurring during adulthood have been reported to be accompanied by high-amplitude somatosensory evoked potentials over the…”
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Fragile-X syndrome: a particular epileptogenic EEG pattern by Musumeci, S A, Colognola, R M, Ferri, R, Gigli, G L, Petrella, M A, Sanfilippo, S, Bergonzi, P, Tassinari, C A

“…A clinical and EEG study of 12 fragile-X syndrome subjects (six with epilepsy) is presented. All subjects had clinical-family history examinations, EEG…”
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Comparison between the results of an automatic and a visual scoring of sleep EEG recordings by FERRI, R, FERRI, P, COLOGNOLA, R. M, PETRELLA, M. A, MUSUMECI, S. A, BERGONZI, P

“…In this paper, results from the visual scoring of nocturnal polygraphic recordings, carried out by nine different groups of readers from different Italian…”
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