Search Results - "Mostacci, B"

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  1. 1

    Epilepsy with auditory features: Contribution of known genes in 112 patients by Bisulli, F., Rinaldi, C., Pippucci, T., Minardi, R., Baldassari, S., Zenesini, C., Mostacci, B., Fanella, M., Avoni, P., Menghi, V., Caporali, L., Muccioli, L., Tinuper, P., Licchetta, L.

    Published in Seizure (London, England) (01-02-2021)
    “…•Pathogenic variants in LGI1, RELN, DEPDC5 and SCN1A have been associated with EAF.•We aimed to estimate the contribution of these genes in 112 EAF cases.•A…”
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    Journal Article
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    Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus by LA MORGIA, C, ACHILLI, A, VETRUGNO, R, MOSTACCI, B, LIGUORI, R, CARROCCIA, R, MONTAGNA, P, RUGOLO, M, TORRONI, A, CARELLI, V, IOMMARINI, L, BARBONI, P, PALA, M, OLIVIERI, A, ZANNA, C, VIDONI, S, TONON, C, LODI, R

    Published in Neurology (04-03-2008)
    “…To investigate the mechanisms underlying myoclonus in Leber hereditary optic neuropathy (LHON). Five patients and one unaffected carrier from two Italian…”
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    A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy by Licchetta, L, Bisulli, F, Fietz, M, Valentino, M L, Morbin, M, Mostacci, B, Oliver, K L, Berkovic, S F, Tinuper, P

    Published in European journal of medical genetics (01-10-2015)
    “…Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3. The most frequent mutation is a 1.02-kb deletion…”
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  6. 6

    A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy by Licchetta, L, Bisulli, F, Fietz, M, Valentino, M.L, Morbin, M, Mostacci, B, Oliver, K.L, Berkovic, S.F, Tinuper, P

    Published in European journal of medical genetics (01-10-2015)
    “…Abstract Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3 . The most frequent mutation is a 1.02-kb…”
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    Journal Article
  7. 7

    Unreliability of automatic scoring of MESAM 4 in assessing patients with complicated obstructive sleep apnea syndrome by Cirignotta, F, Mondini, S, Gerardi, R, Mostacci, B, Sancisi, E

    Published in Chest (01-05-2001)
    “…Portable devices are used for unattended recording of patients with suspected obstructive sleep apnea syndrome (OSAS). The MESAM 4 (MAP; Martinsried, Germany)…”
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    Journal Article
  8. 8

    Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy by Contin, Manuela, Bisulli, Francesca, Santucci, Margherita, Riva, Roberto, Tonon, Francesca, Mohamed, Susan, Ferri, Lorenzo, Stipa, Carlotta, Tinuper, Paolo, Boni, A., Messana, T., Michelucci, R., Mostacci, B., Russo, A., Volpi, L., Licchetta, L., Parmeggiani, A., Rizzi, R.

    Published in Epilepsia (Copenhagen) (01-07-2018)
    “…Summary We prospectively examined the effect of antiepileptic (AED) cotherapy on steady state plasma concentrations of perampanel (PMP) in epileptic patients…”
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    Sleep complaints in periodic paralyses: a web survey by Buzzi, G, Mostacci, B, Sancisi, E, Cirignotta, F

    Published in Functional neurology (01-07-2001)
    “…Neuronal potassium conductance has been shown to influence the sleep-wake cycle and REM sleep homeostasis. The periodic paralyses (PP) are characterized by…”
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    Italian version of the Epworth sleepiness scale: external validity by Vignatelli, L, Plazzi, G, Barbato, A, Ferini-Strambi, L, Manni, R, Pompei, F, D'Alessandro, R

    Published in Neurological sciences (01-02-2003)
    “…We assessed the validity of an Italian language version of the Epworth sleepiness scale (ESS). The translated ESS was compared to the multiple sleep latency…”
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  15. 15

    Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center? by Brandes, Alba A, Franceschi, Enrico, Ermani, Mario, Tosoni, Alicia, Albani, Fiorenzo, Depenni, Roberta, Faedi, Marina, Pisanello, Anna, Crisi, Girolamo, Urbini, Benedetta, Dazzi, Claudio, Cavanna, Luigi, Mucciarini, Claudia, Pasini, Giuseppe, Bartolini, Stefania, Marucci, Gianluca, Morandi, Luca, Zunarelli, Elena, Cerasoli, Serenella, Gardini, Giorgio, Lanza, Giovanni, Silini, Enrico Maria, Cavuto, Silvio, Baruzzi, Agostino, Baruzzi, A, Albani, F, Calbucci, F, D'Alessandro, R, Michelucci, R, Brandes, A, Eusebi, V, Ceruti, S, Fainardi, E, Tamarozzi, R, Emiliani, E, Cavallo, M, Franceschi, E, Tosoni, A, Fiorica, F, Valentini, A, Depenni, R, Mucciarini, C, Crisi, G, Sasso, E, Biasini, C, Cavanna, L, Guidetti, D, Marcello, N, Pisanello, A, Cremonini, A M, Guiducci, G, de Pasqua, S, Testoni, S, Agati, R, Ambrosetto, G, Bacci, A, Baldin, E, Baldrati, A, Barbieri, E, Bartolini, S, Bellavista, E, Bisulli, F, Bonora, E, Bunkheila, F, Carelli, V, Crisci, M, Dall'Occa, P, de Biase, D, Ferro, S, Franceschi, C, Frezza, G, Grasso, V, Leonardi, M, Marucci, G, Mazzocchi, V, Morandi, L, Mostacci, B, Palandri, G, Pasini, E, Pastore Trossello, M, Pession, A, Ragazzi, M, Riguzzi, P, Rinaldi, R, Rizzi, S, Romeo, G, Spagnolli, F, Tinuper, P, Trocino, C, Cerasoli, S, Dall'Agata, M, Faedi, M, Frattarelli, M, Gentili, G, Giovannini, A, Iorio, P, Pasquini, U, Galletti, G, Guidi, C

    Published in Neuro-oncology practice (01-12-2014)
    “…As yet, no population-based prospective studies have been conducted to investigate the incidence and clinical outcome of glioblastoma (GBM) or the diffusion…”
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  16. 16

    A driving simulation task: correlations with Multiple Sleep Latency Test by Pizza, Fabio, Contardi, Sara, Mostacci, Barbara, Mondini, Susanna, Cirignotta, Fabio

    Published in Brain research bulletin (30-06-2004)
    “…Sleepiness and driving is a dangerous combination that causes thousands of crashes each year resulting in injury and death. In the last few years, driving…”
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    A seizure response dog: video recording of reacting behaviour during repetitive prolonged seizures by Di Vito, Lidia, Naldi, Ilaria, Mostacci, Barbara, Licchetta, Laura, Bisulli, Francesca, Tinuper, Paolo

    Published in Epileptic disorders (01-06-2010)
    “…Seizure response and alerting behaviour may spontaneously develop in dogs living with children or adults with epilepsy. Some dogs can also be reliably trained…”
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