Search Results - "Mostacci, B"
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Epilepsy with auditory features: Contribution of known genes in 112 patients
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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2
Super refractory status epilepticus in Lafora disease interrupted by vagus nerve stimulation: A case report
Published in Brain stimulation (01-11-2019)Get full text
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3
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus
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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4
Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study
Published in Brain (London, England : 1878) (01-10-2009)“…The intra vitam diagnosis of prion disease is challenging and a definite diagnosis still requires neuropathological examination in non-familial cases. Magnetic…”
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5
A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
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
A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
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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7
Unreliability of automatic scoring of MESAM 4 in assessing patients with complicated obstructive sleep apnea syndrome
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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8
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy
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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9
The Arousal Disorders Questionnaire: a new and effective screening tool
Published in Sleep medicine (01-12-2022)Get full text
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10
Epileptologists telling their experiences caring for patients with epilepsy
Published in Seizure (London, England) (01-02-2021)“…•Patients’ everyday-life and caregiver burden affect the epilepsy care pathway.•The attentive relationship of care was found to be the main element of…”
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11
Sleep complaints in periodic paralyses: a web survey
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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EEG in fitness to drive evaluations in people with epilepsy — Considerable variations across Europe
Published in Seizure (London, England) (01-07-2020)“…•Use of EEG in fitness-to-drive evaluations varies considerable in Europe.•There is no consensus how EEG pathology should be assessed in driving…”
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13
Correction to: Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study
Published in Journal of neuro-oncology (2018)“…The members of the PERNO Study Group were not individually captured in the metadata of the original publication. They are included in the metadata of this…”
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14
Italian version of the Epworth sleepiness scale: external validity
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
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?
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
A driving simulation task: correlations with Multiple Sleep Latency Test
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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Distribution of neurochemical abnormalities in patients with narcolepsy with cataplexy: An in vivo brain proton MR spectroscopy study
Published in Brain research bulletin (28-09-2009)“…Abstract Narcolepsy with cataplexy is characterised by excessive daytime sleepiness, sudden drops of muscle tone triggered by emotions, termed cataplexy,…”
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18
A seizure response dog: video recording of reacting behaviour during repetitive prolonged seizures
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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