IRIS
ELIA, MAURIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 3.383
AS - Asia 783
SA - Sud America 344
EU - Europa 304
AF - Africa 21
Totale 4.835
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Nazione #
US - Stati Uniti d'America 3.307
SG - Singapore 341
BR - Brasile 272
HK - Hong Kong 166
VN - Vietnam 130
TR - Turchia 81
IE - Irlanda 68
IT - Italia 52
MX - Messico 52
DE - Germania 46
FR - Francia 42
AR - Argentina 25
GB - Regno Unito 25
CN - Cina 17
CA - Canada 15
ZA - Sudafrica 14
AT - Austria 13
EC - Ecuador 13
PL - Polonia 11
PY - Paraguay 11
IN - India 10
BD - Bangladesh 9
UA - Ucraina 9
ID - Indonesia 8
PE - Perù 8
CO - Colombia 7
FI - Finlandia 7
SE - Svezia 7
RU - Federazione Russa 5
BE - Belgio 4
CL - Cile 4
IQ - Iraq 4
NL - Olanda 4
DO - Repubblica Dominicana 3
ES - Italia 3
LT - Lituania 3
PK - Pakistan 3
AE - Emirati Arabi Uniti 2
CH - Svizzera 2
EG - Egitto 2
JO - Giordania 2
JP - Giappone 2
KR - Corea 2
MA - Marocco 2
RS - Serbia 2
VE - Venezuela 2
AO - Angola 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BW - Botswana 1
CD - Congo 1
CR - Costa Rica 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
IL - Israele 1
PA - Panama 1
PS - Palestinian Territory 1
SV - El Salvador 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 4.835
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Città #
Dallas 3.022
Hong Kong 166
Singapore 151
Istanbul 71
Dublin 68
Ashburn 47
Mexico City 46
Ho Chi Minh City 43
Assago 26
Hanoi 23
São Paulo 21
Santa Clara 17
London 15
Los Angeles 15
Munich 12
Dongguan 10
Montreal 10
New York 10
Nuremberg 10
Warsaw 10
Chicago 9
Da Nang 9
Johannesburg 9
San Francisco 9
Boston 7
Lima 7
Asunción 6
Chandler 6
Frankfurt am Main 6
Helsinki 6
Jacksonville 6
Ribeirão Preto 6
Santo André 6
The Dalles 6
Biên Hòa 5
Guarulhos 5
Rio de Janeiro 5
Roubaix 5
Belém 4
Boardman 4
Brasília 4
Bắc Ninh 4
Curitiba 4
Denver 4
Goiânia 4
Kocaeli 4
Phoenix 4
Seattle 4
West Jordan 4
Amsterdam 3
Ankara 3
Ann Arbor 3
Augusta 3
Bauru 3
Belo Horizonte 3
Brussels 3
Campinas 3
Catania 3
Contagem 3
Düsseldorf 3
Guayaquil 3
Hortolândia 3
La Plata 3
Lahore 3
Lauterbourg 3
Maringá 3
Mascalucia 3
Modena 3
Porto Alegre 3
Quilicura 3
Quận Bình Thạnh 3
Sorocaba 3
Stockholm 3
Thái Nguyên 3
Vallefiorita 3
Viamão 3
Amman 2
Apucarana 2
Atlanta 2
Barra de São Francisco 2
Beijing 2
Belgrade 2
Bogotá 2
Brooklyn 2
Buenos Aires 2
Buon Ma Thuot 2
Camaçari 2
Cambridge 2
Cape Town 2
Caraguatatuba 2
Charlotte 2
Colatina 2
Criciúma 2
Cà Mau 2
Dhaka 2
Falkenstein 2
Feira de Santana 2
Florianópolis 2
Ha Long 2
Hacienda Ibarra 2
Totale 4.084
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Nome #
Clinical characterization and management of persons with comorbid epilepsy and depression: an expert opinion paper 628
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 145
Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic 144
null 129
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 61
Il labirinto delle cure 43
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 38
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 38
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 36
Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST) 34
Poor School Academic Performance and Benign Epilepsy with Centro-Temporal Spikes 34
A new case of trichothiodystrophy associated with autism, seizures, and mental retardation 33
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 33
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 33
A t(4 ; 9)(q34 ; p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism 33
Communicative and cognitive functioning in Angelman syndrome with UBE3A mutation: a case report 32
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 32
"Postural first" principle when balance is challenged in elderly people 30
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder 30
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? 30
A case of epidermal nevus syndrome with carotid malformation 29
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin 29
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 29
Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs 29
A FURTHER FAMILY WITH EPILEPSY, DEMENTIA AND YELLOW TEETH - THE KOHLSCHUTTER SYNDROME 28
A new family with periventricular nodular heterotopia and peculiar dysmorphic features - A probable X-linked dominant trait 27
Self-injury in people with intellectual disability and epilepsy: a matched controlled study 27
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy 27
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study 26
Oral Health and Quality of Life in People with Autism Spectrum Disorder 26
Expression of multidrug resistance type 1 gene (MDR1) P-glycoprotein in intractable epilepsy with different aetiologies: a double-labelling and electron microscopy study 26
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 26
Mutations in NHLRC1 cause progressive myoclonus epilepsy 26
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 25
The Italian registry for patients with Prader–Willi syndrome 25
A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most? 25
Adjunctive Brivaracetam in Older Patients with Focal Seizures: Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST) 24
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders 24
A genetic variant that disrupts MET transcription is associated with autism 24
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy 24
Neurofibromatosis type 1 and infantile spasms 23
A case of FG syndrome with gingival hyperplasia and keloids 23
Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures 23
The evolution of self-injurious behaviors in people with intellectual disability and epilepsy: A follow-up study 22
Reflex seizures in a patient with Angelman syndrome and trisomy 21 22
Eyelid myoclonia with absences in three subjects with mental retardation 22
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 22
Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy? 21
Epilepsy: A Multifaced Spectrum Disorder 21
The management of epilepsy in clinical practice: Do the timing and severity of the disease influence the priorities of patients and the caring physicians? Data from the EPINEEDS study 21
Relationship between Delta, Sigma, Beta, and Gamma EEG bands at REM sleep onset and REM sleep end 21
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature 21
The management of epilepsy in clinical practice: Do the needs manifested by the patients correspond to the priorities of the caring physicians? Findings from the EPINEEDS Study 21
Management of psychogenic non‐epileptic seizures: a multidisciplinary approach 21
Improvements in mealtime behaviors of children with special needs following a day-center-based behavioral intervention for feeding problems 20
null 20
Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study 20
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications 20
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 20
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 20
The pharmacological management of Lennox-Gastaut syndrome and critical literature review 20
Epilepsy in ring 14 chromosome syndrome 19
Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis 19
European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry 19
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 19
Letter to the Editor Regarding the Article “Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy” 19
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution 18
Trisomy 12p and epilepsy with myoclonic absences 18
Seizures in Chiari I malformation: A clinical and electroencephalographic study 18
Growth hormone and sleep in Down syndrome 18
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 18
EPILEPTIC SEIZURES AND FRA(X) SYNDROME 18
ALS dysphagia pathophysiology Differential botulinum toxin response 18
The use of Autism Mental Status Exam in an Italian sample. A brief report. 18
Adult onset of subacute sclerosing panencephalitis: a case report 18
Adjunctive cenobamate in people with focal onset seizures: Insights from the Italian Expanded Access Program 17
Myoclonic status in nonprogressive encephalopathies: An update 17
AGE, SEX AND MENTAL-RETARDATION RELATED CHANGES OF BRAIN-STEM AUDITORY-EVOKED POTENTIALS IN DOWNS-SYNDROME 17
The etiology of autism in a group of mentally retarded subjects 17
Lacosamide in pediatric and adult patients: Comparison of efficacy and safety 17
The Role of Supplements and Over-the-Counter Products to Improve Sleep in Children: A Systematic Review 17
Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics 16
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 16
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome 16
Normal respiratory pattern during sleep in young fragile X-syndrome patients 16
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients 16
Saethre-Chotzen syndrome: A clinical, EEG and neuroradiological study 16
Heart rate variability and apnea during sleep in Down's syndrome 16
Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity 16
Correlation dimension of EEG slow-wave activity during sleep in children and young adults 16
Autism, epilepsy, and synaptopathies: a not rare association 16
EVOKED SPIKES AND GIANT SOMATOSENSORY-EVOKED POTENTIALS IN A PATIENT WITH FRAGILE-X SYNDROME 16
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 16
Transient MRI abnormalities associated with partial status epilepticus: a case report 16
GROWTH-HORMONE DEFICIT IN AUTISM 15
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes 15
EPILEPSY AND FRAGILE-X SYNDROME - A FOLLOW-UP-STUDY 15
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 15
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 15
Rapid eye movements modulation during night sleep in autistic subjects 15
Totale 3.243
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Categoria #
all - tutte 18.182
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 18.182
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202111 0 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
2024/20251.000 6 4 4 5 15 23 26 18 20 76 602 201
2025/20263.989 368 2.839 782 0 0 0 0 0 0 0 0 0
Totale 5.111