IRIS
ELIA, MAURIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 3.275
AS - Asia 719
EU - Europa 294
SA - Sud America 238
AF - Africa 17
Totale 4.543
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Nazione #
US - Stati Uniti d'America 3.203
SG - Singapore 330
BR - Brasile 195
HK - Hong Kong 166
VN - Vietnam 82
TR - Turchia 80
IE - Irlanda 68
IT - Italia 50
MX - Messico 48
DE - Germania 46
FR - Francia 42
GB - Regno Unito 23
CN - Cina 17
CA - Canada 15
AT - Austria 13
ZA - Sudafrica 13
AR - Argentina 12
PL - Polonia 11
IN - India 10
EC - Ecuador 9
UA - Ucraina 9
BD - Bangladesh 8
FI - Finlandia 7
ID - Indonesia 7
SE - Svezia 7
PY - Paraguay 6
CO - Colombia 5
PE - Perù 5
IQ - Iraq 4
NL - Olanda 4
BE - Belgio 3
CL - Cile 3
DO - Repubblica Dominicana 3
LT - Lituania 3
PK - Pakistan 3
CH - Svizzera 2
ES - Italia 2
JO - Giordania 2
JP - Giappone 2
KR - Corea 2
RS - Serbia 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AO - Angola 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BW - Botswana 1
CD - Congo 1
CR - Costa Rica 1
EG - Egitto 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
IL - Israele 1
PA - Panama 1
PS - Palestinian Territory 1
RU - Federazione Russa 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
UZ - Uzbekistan 1
Totale 4.543
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Città #
Dallas 2.941
Hong Kong 166
Singapore 147
Istanbul 70
Dublin 68
Mexico City 45
Ashburn 38
Assago 26
Ho Chi Minh City 20
Hanoi 18
Santa Clara 16
London 14
São Paulo 14
Los Angeles 13
Munich 12
Dongguan 10
Montreal 10
Nuremberg 10
Warsaw 10
Chicago 9
Johannesburg 9
New York 9
San Francisco 9
Da Nang 8
Boston 7
Chandler 6
Frankfurt am Main 6
Helsinki 6
Jacksonville 6
The Dalles 6
Asunción 5
Lima 5
Ribeirão Preto 5
Roubaix 5
Boardman 4
Curitiba 4
Denver 4
Kocaeli 4
Seattle 4
West Jordan 4
Amsterdam 3
Ankara 3
Ann Arbor 3
Augusta 3
Belém 3
Brasília 3
Brussels 3
Catania 3
Düsseldorf 3
Goiânia 3
Guayaquil 3
La Plata 3
Lahore 3
Lauterbourg 3
Mascalucia 3
Modena 3
Phoenix 3
Rio de Janeiro 3
Santo André 3
Sorocaba 3
Stockholm 3
Thái Nguyên 3
Vallefiorita 3
Amman 2
Apucarana 2
Barra de São Francisco 2
Beijing 2
Belgrade 2
Belo Horizonte 2
Biên Hòa 2
Brooklyn 2
Buon Ma Thuot 2
Cambridge 2
Campinas 2
Cape Town 2
Charlotte 2
Colatina 2
Contagem 2
Criciúma 2
Cà Mau 2
Falkenstein 2
Florianópolis 2
Ha Long 2
Hacienda Ibarra 2
Ipupiara 2
Jaboatão dos Guararapes 2
Jaipur 2
João Pessoa 2
Juiz de Fora 2
Long An 2
Maringá 2
Milan 2
Mumbai 2
Porto Alegre 2
Quilicura 2
Quận Bình Thạnh 2
Quận Một 2
Rome 2
Santo Domingo 2
Seoul 2
Totale 3.916
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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 54
Il labirinto delle cure 41
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 38
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 32
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 32
Communicative and cognitive functioning in Angelman syndrome with UBE3A mutation: a case report 31
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 31
Poor School Academic Performance and Benign Epilepsy with Centro-Temporal Spikes 31
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 31
A new case of trichothiodystrophy associated with autism, seizures, and mental retardation 30
Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST) 30
"Postural first" principle when balance is challenged in elderly people 28
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? 28
Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs 28
A case of epidermal nevus syndrome with carotid malformation 27
Self-injury in people with intellectual disability and epilepsy: a matched controlled study 27
Oral Health and Quality of Life in People with Autism Spectrum Disorder 26
A t(4 ; 9)(q34 ; p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism 26
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin 25
A FURTHER FAMILY WITH EPILEPSY, DEMENTIA AND YELLOW TEETH - THE KOHLSCHUTTER SYNDROME 25
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 25
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 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
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
The Italian registry for patients with Prader–Willi syndrome 24
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder 24
Neurofibromatosis type 1 and infantile spasms 23
A new family with periventricular nodular heterotopia and peculiar dysmorphic features - A probable X-linked dominant trait 23
Expression of multidrug resistance type 1 gene (MDR1) P-glycoprotein in intractable epilepsy with different aetiologies: a double-labelling and electron microscopy study 23
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study 22
The evolution of self-injurious behaviors in people with intellectual disability and epilepsy: A follow-up study 22
Mutations in NHLRC1 cause progressive myoclonus epilepsy 22
A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most? 22
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy 22
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
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 21
Improvements in mealtime behaviors of children with special needs following a day-center-based behavioral intervention for feeding problems 20
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 20
null 20
Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy? 20
Relationship between Delta, Sigma, Beta, and Gamma EEG bands at REM sleep onset and REM sleep end 20
Eyelid myoclonia with absences in three subjects with mental retardation 20
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature 20
European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry 19
A case of FG syndrome with gingival hyperplasia and keloids 19
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 19
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 19
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 19
The pharmacological management of Lennox-Gastaut syndrome and critical literature review 19
A genetic variant that disrupts MET transcription is associated with autism 18
Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study 18
Reflex seizures in a patient with Angelman syndrome and trisomy 21 18
Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures 18
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution 17
Trisomy 12p and epilepsy with myoclonic absences 17
Seizures in Chiari I malformation: A clinical and electroencephalographic study 17
Epilepsy in ring 14 chromosome syndrome 17
Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis 17
Growth hormone and sleep in Down syndrome 17
Lacosamide in pediatric and adult patients: Comparison of efficacy and safety 17
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” 17
EPILEPTIC SEIZURES AND FRA(X) SYNDROME 17
The use of Autism Mental Status Exam in an Italian sample. A brief report. 17
Adult onset of subacute sclerosing panencephalitis: a case report 17
Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics 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
Adjunctive cenobamate in people with focal onset seizures: Insights from the Italian Expanded Access Program 16
Myoclonic status in nonprogressive encephalopathies: An update 16
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients 16
Heart rate variability and apnea during sleep in Down's syndrome 16
Autism, epilepsy, and synaptopathies: a not rare association 16
The etiology of autism in a group of mentally retarded subjects 16
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications 16
The Role of Supplements and Over-the-Counter Products to Improve Sleep in Children: A Systematic Review 16
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 16
GROWTH-HORMONE DEFICIT IN AUTISM 15
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes 15
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 15
AGE, SEX AND MENTAL-RETARDATION RELATED CHANGES OF BRAIN-STEM AUDITORY-EVOKED POTENTIALS IN DOWNS-SYNDROME 15
Saethre-Chotzen syndrome: A clinical, EEG and neuroradiological study 15
Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity 15
Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome 15
Correlation dimension of EEG slow-wave activity during sleep in children and young adults 15
Tuberous sclerosis underlying neonatal poliosis 15
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 15
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 15
Transient MRI abnormalities associated with partial status epilepticus: a case report 15
Nervous system involvement in Degos disease 14
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 14
EPILEPSY AND FRAGILE-X SYNDROME - A FOLLOW-UP-STUDY 14
Totale 3.069
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Categoria #
all - tutte 17.013
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 17.013
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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
2025/20263.697 368 2.839 490 0 0 0 0 0 0 0 0 0
Totale 4.819