IRIS
ELIA, MAURIZIO
 Distribuzione geografica
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Continente #
AS - Asia 379
NA - Nord America 228
EU - Europa 210
SA - Sud America 40
Totale 857
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Nazione #
US - Stati Uniti d'America 171
SG - Singapore 153
HK - Hong Kong 120
TR - Turchia 75
IE - Irlanda 68
MX - Messico 47
BR - Brasile 39
DE - Germania 32
FR - Francia 32
VN - Vietnam 18
IT - Italia 17
GB - Regno Unito 16
AT - Austria 9
CA - Canada 9
PL - Polonia 8
UA - Ucraina 7
CN - Cina 5
SE - Svezia 5
FI - Finlandia 4
BE - Belgio 3
PK - Pakistan 3
BD - Bangladesh 2
CH - Svizzera 2
KR - Corea 2
LT - Lituania 2
RS - Serbia 2
CO - Colombia 1
ES - Italia 1
HN - Honduras 1
HU - Ungheria 1
IN - India 1
NL - Olanda 1
Totale 857
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Città #
Singapore 136
Hong Kong 120
Dublin 68
Istanbul 67
Mexico City 45
Ashburn 20
Santa Clara 16
London 13
Chicago 9
Los Angeles 9
Nuremberg 7
Warsaw 7
Chandler 6
Frankfurt am Main 6
Hanoi 6
Jacksonville 6
Montreal 6
Munich 6
San Francisco 6
The Dalles 6
Boston 5
Kocaeli 4
New York 4
Roubaix 4
Seattle 4
São Paulo 4
West Jordan 4
Ankara 3
Ann Arbor 3
Brussels 3
Denver 3
Düsseldorf 3
Helsinki 3
Lahore 3
Lauterbourg 3
Mascalucia 3
Milan 3
Modena 3
Vallefiorita 3
Augusta 2
Beijing 2
Belgrade 2
Boardman 2
Brooklyn 2
Buon Ma Thuot 2
Cambridge 2
Charlotte 2
Da Nang 2
Dallas 2
Falkenstein 2
Ho Chi Minh City 2
Long An 2
Maringá 2
Seoul 2
Sóc Trăng 2
Thái Nguyên 2
Zurich 2
Amsterdam 1
Araquari 1
Barra de São Francisco 1
Bauru 1
Bremen 1
Bucaramanga 1
Buffalo 1
Campinas 1
Caraguatatuba 1
Caruaru 1
Catania 1
Colatina 1
Columbus 1
Contagem 1
Corinto 1
Dearborn 1
Des Moines 1
Dhaka 1
Esperança 1
Feira de Santana 1
Florencia 1
Florianópolis 1
Gainsborough 1
Gaziantep 1
Glen Allen 1
Governador Valadares 1
Guarujá 1
Itabirito 1
Itacoatiara 1
Jaboatão dos Guararapes 1
João Pessoa 1
Juru 1
Londrina 1
Lyon 1
Manchester 1
Michigan City 1
Milwaukee 1
Mumbai 1
Naples 1
Oklahoma City 1
Ouro Fino 1
Passo Fundo 1
Pato Branco 1
Totale 709
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Nome #
null 129
Il labirinto delle cure 34
null 31
null 20
Neurofibromatosis type 1 and infantile spasms 19
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 19
Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs 19
Communicative and cognitive functioning in Angelman syndrome with UBE3A mutation: a case report 18
Self-injury in people with intellectual disability and epilepsy: a matched controlled study 18
Oral Health and Quality of Life in People with Autism Spectrum Disorder 12
The evolution of self-injurious behaviors in people with intellectual disability and epilepsy: A follow-up study 12
The Italian registry for patients with Prader–Willi syndrome 12
Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study 11
Adjunctive Brivaracetam in Older Patients with Focal Seizures: Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST) 10
The Role of Supplements and Over-the-Counter Products to Improve Sleep in Children: A Systematic Review 10
The use of Autism Mental Status Exam in an Italian sample. A brief report. 10
European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry 9
Epilepsy: A Multifaced Spectrum Disorder 9
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 9
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature 9
A new case of trichothiodystrophy associated with autism, seizures, and mental retardation 8
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 8
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 7
A case of epidermal nevus syndrome with carotid malformation 7
Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST) 7
Expression of multidrug resistance type 1 gene (MDR1) P-glycoprotein in intractable epilepsy with different aetiologies: a double-labelling and electron microscopy study 7
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 7
Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene 7
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 7
Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area 7
"Postural first" principle when balance is challenged in elderly people 6
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1 6
Poor School Academic Performance and Benign Epilepsy with Centro-Temporal Spikes 6
Heart rate variability and apnea during sleep in Down's syndrome 6
Trisomy 12p and epilepsy with myoclonic absences 5
Multiple sclerosis. Magnetic resonance imaging, evoked potentials and cerebrospinal fluid analysis 5
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes 5
Relevance of clinical context in the diagnostic-therapeutic approach to status epilepticus 5
Scalp topographic distribution of beta and gamma ratios during sleep 5
A new family with periventricular nodular heterotopia and peculiar dysmorphic features - A probable X-linked dominant trait 5
Adjunctive cenobamate in people with focal onset seizures: Insights from the Italian Expanded Access Program 5
EPILEPSY AND FRAGILE-X SYNDROME - A FOLLOW-UP-STUDY 5
Age- and height-dependent changes of amplitude and latency of somatosensory evoked potentials in children and young adults with Down's syndrome 5
Drug resistant epilepsies: A multicentre case series of steroid therapy 5
Saethre-Chotzen syndrome: A clinical, EEG and neuroradiological study 5
BRAIN-STEM AUDITORY-EVOKED POTENTIALS IN TUBEROUS SCLEROSIS 5
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 5
An educational campaign about epilepsy among Italian primary school teachers. 2. The results of a focused training program 5
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 5
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 5
Lacosamide in pediatric and adult patients: Comparison of efficacy and safety (vol 22, pg 210, 2013) 5
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 5
A t(4 ; 9)(q34 ; p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism 5
Sleep in children with autistic spectrum disorder: A questionnaire and polysomnographic study 5
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy 5
Adult onset of subacute sclerosing panencephalitis: a case report 5
GROWTH-HORMONE DEFICIT IN AUTISM 4
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome 4
SEIZURES IN KLINEFELTERS-SYNDROME - A CLINICAL AND EEG STUDY OF 5 PATIENTS 4
A genetic variant that disrupts MET transcription is associated with autism 4
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin 4
Normal respiratory pattern during sleep in young fragile X-syndrome patients 4
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders 4
Topiramate potentiates the antiseizure activity of some anticonvulsants in DBA/2 mice 4
Familial cortical tremor, epilepsy, and mental retardation - A distinct clinical entity? 4
Felbamate in therapy-resistant epilepsy: An Italian experience 4
Clinical, morphological, and biochemical correlates of head circumference in autism 4
Epilepsy in ring 14 chromosome syndrome 4
Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis 4
Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization 4
A FURTHER FAMILY WITH EPILEPSY, DEMENTIA AND YELLOW TEETH - THE KOHLSCHUTTER SYNDROME 4
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patiens 4
AGE, SEX AND MENTAL-RETARDATION RELATED CHANGES OF BRAIN-STEM AUDITORY-EVOKED POTENTIALS IN DOWNS-SYNDROME 4
Seizures and epileptiform EEG abnormalities in FRAXE syndrome 4
EMOTIONAL FACIAL PARALYSIS IN THE RETT SYNDROME 4
Brivaracetam as add-on treatment in patients with post-stroke epilepsy: real-world data from the BRIVAracetam add-on First Italian netwoRk Study (BRIVAFIRST) 4
Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with Down Syndrome 4
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 4
Rapid eye movements modulation during night sleep in autistic subjects 4
miRNAs Plasma Profiles in Vascular Dementia: Biomolecular Data and Biomedical Implications 4
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 4
Relationship between Delta, Sigma, Beta, and Gamma EEG bands at REM sleep onset and REM sleep end 4
Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity 4
Seizures in Klinefelter's syndrome 4
TRANSIENT ALTERNATING HEMICHOREA AS PRESENTING SIGN OF PROGRESSIVE SUPRANUCLEAR PALSY 4
Correlation dimension of EEG slow-wave activity during sleep in children and young adults 4
Permutation entropy of scalp EEG: A tool to investigate epilepsies Suggestions from absence epilepsies 4
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation 4
Sleep disturbances in Angelman syndrome: a questionnaire study 4
A case of FG syndrome with gingival hyperplasia and keloids 4
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 4
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 4
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? 4
Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions 4
Reflex seizures in a patient with Angelman syndrome and trisomy 21 4
An Italian consensus on the management of Lennox-Gastaut syndrome 4
EVOKED SPIKES AND GIANT SOMATOSENSORY-EVOKED POTENTIALS IN A PATIENT WITH FRAGILE-X SYNDROME 4
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution 3
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 3
Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics 3
Totale 799
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Categoria #
all - tutte 6.876
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 6.876
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202112 1 0 1 1 0 1 0 1 0 5 1 1
2021/202218 0 0 0 4 0 0 1 1 1 4 0 7
2022/202339 4 4 0 3 4 5 2 6 4 1 4 2
2023/202443 3 4 3 2 3 2 3 3 4 8 6 2
2024/2025966 6 4 4 5 15 23 26 18 20 76 607 162
Totale 1.088