IRIS
ZARA, FEDERICO
 Distribuzione geografica
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Continente #
EU - Europa 39.868
AS - Asia 5.575
NA - Nord America 4.896
SA - Sud America 485
AF - Africa 91
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 4
Totale 50.943
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Nazione #
IT - Italia 39.031
US - Stati Uniti d'America 4.562
SG - Singapore 2.052
CN - Cina 1.331
VN - Vietnam 829
BD - Bangladesh 778
FR - Francia 337
BR - Brasile 293
HK - Hong Kong 213
CA - Canada 138
DE - Germania 104
AR - Argentina 89
FI - Finlandia 70
MX - Messico 62
JP - Giappone 59
GB - Regno Unito 57
IN - India 45
IQ - Iraq 44
NL - Olanda 44
CH - Svizzera 42
ID - Indonesia 37
JM - Giamaica 35
EC - Ecuador 27
ZA - Sudafrica 25
AU - Australia 23
PH - Filippine 21
CR - Costa Rica 20
ES - Italia 20
PL - Polonia 18
PK - Pakistan 17
VE - Venezuela 17
RU - Federazione Russa 16
SA - Arabia Saudita 16
SE - Svezia 16
CO - Colombia 15
TN - Tunisia 15
MA - Marocco 14
RO - Romania 14
TR - Turchia 14
CL - Cile 13
IE - Irlanda 13
KR - Corea 13
AT - Austria 12
JO - Giordania 11
SV - El Salvador 11
UA - Ucraina 11
HN - Honduras 10
PR - Porto Rico 10
PY - Paraguay 10
TH - Thailandia 10
GT - Guatemala 9
KE - Kenya 9
NP - Nepal 9
PE - Perù 9
AL - Albania 8
LB - Libano 8
TT - Trinidad e Tobago 8
IL - Israele 7
AE - Emirati Arabi Uniti 6
AZ - Azerbaigian 6
BB - Barbados 6
BE - Belgio 6
HU - Ungheria 6
NI - Nicaragua 6
TW - Taiwan 6
UY - Uruguay 6
UZ - Uzbekistan 6
BH - Bahrain 5
BO - Bolivia 5
GE - Georgia 5
KG - Kirghizistan 5
MY - Malesia 5
RS - Serbia 5
BG - Bulgaria 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
LT - Lituania 4
OM - Oman 4
SY - Repubblica araba siriana 4
BA - Bosnia-Erzegovina 3
CZ - Repubblica Ceca 3
DZ - Algeria 3
EG - Egitto 3
ET - Etiopia 3
GR - Grecia 3
KZ - Kazakistan 3
LC - Santa Lucia 3
NO - Norvegia 3
PT - Portogallo 3
AG - Antigua e Barbuda 2
BM - Bermuda 2
BS - Bahamas 2
BW - Botswana 2
BZ - Belize 2
GA - Gabon 2
HR - Croazia 2
MD - Moldavia 2
MU - Mauritius 2
NG - Nigeria 2
PS - Palestinian Territory 2
Totale 50.911
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Città #
Genova 20.285
Genoa 12.237
Rapallo 2.940
Vado Ligure 2.823
San Jose 1.067
Singapore 913
Ashburn 620
Lauterbourg 305
Ho Chi Minh City 284
Beijing 246
Council Bluffs 203
Hong Kong 202
New York 202
Hanoi 175
Los Angeles 139
Santa Clara 108
Frankfurt am Main 83
Milan 81
Bordighera 66
Dallas 65
Helsinki 61
Buffalo 59
Chicago 59
Rome 51
Haiphong 46
Tokyo 43
Mexico City 38
Montreal 33
Zurich 33
Naples 31
Da Nang 30
Orem 30
Tianjin 29
Atlanta 28
Phoenix 28
Toronto 28
Boardman 26
Houston 25
Bologna 24
San Francisco 24
St Louis 24
Florence 23
Hải Dương 23
Kingston 23
São Paulo 23
Philadelphia 20
Turin 19
Bari 17
Cardiff 17
San José 17
Amsterdam 16
Brooklyn 16
Biên Hòa 15
City of London 15
Shanghai 15
Boston 14
Queens 14
Washington 14
Warsaw 13
Baghdad 12
Dublin 12
Memphis 12
Piscataway 12
Quito 12
Quảng Ngãi 12
Seattle 12
Cagliari 11
Jacksonville 11
Madrid 11
Arlington 10
Charlotte 10
Chennai 10
Denver 10
Johannesburg 10
San Salvador 10
Stockholm 10
Amman 9
Can Tho 9
Columbus 9
Detroit 9
London 9
Messina 9
Nairobi 9
Newark 9
Palermo 9
Thái Nguyên 9
Cape Town 8
Lappeenranta 8
Lima 8
Ninh Bình 8
Nuremberg 8
Rio de Janeiro 8
The Bronx 8
Tirana 8
Verona 8
Cincinnati 7
Des Moines 7
Dhaka 7
Guayaquil 7
Jakarta 7
Totale 44.492
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Nome #
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. 1.410
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery 584
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. 258
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 243
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 239
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 234
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 234
22-year-old girl with status epilepticus and progressive neurological symptoms. 221
A novel SCN2A mutation in family with benign familial infantile seizures. 219
Clinical and molecular consequences of exon 78 deletion in DMD gene 218
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity 213
Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. 208
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 204
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 202
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 201
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 200
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 200
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 198
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 197
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures. 195
Do regulatory regions matter in FOXG1 duplications? 192
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. 192
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 191
Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy. 190
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 189
Clinical and genetic findings in 26 Italian patients with Lafora disease. 188
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). 188
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons 188
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 187
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 187
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations 187
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 186
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 185
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 184
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 184
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity. 183
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 183
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 183
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 182
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 182
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. 181
Epileptic myoclonus as ciprofloxacin-associated adverse effect. 181
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 181
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 181
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 180
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 180
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 180
De novo mutations in HCN1 cause early infantile epileptic encephalopathy 180
Sudden death in Unverricht-Lundborg patients: is serotonin the key? 179
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. 178
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 178
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 177
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 177
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 176
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 175
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 175
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 174
TBC1D24 genotype-phenotype correlation 174
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis 174
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 173
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 173
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 173
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 172
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy 171
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. 170
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures 169
Chiari malformation type I: what information from the genetics? 169
Phenotypic characterization of hypomyelination and congenital cataract 168
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 168
Epileptic seizures can follow high doses of oral vardenafil. 167
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function. 167
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 167
Willful modulation of brain activity in disorders of consciousness. 166
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 166
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 166
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 166
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 164
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 164
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors 164
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 163
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 163
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 162
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 161
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 161
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 161
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 160
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 159
Refractory, life-threatening status epilepticus in a 3-year-old girl. 159
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY: GENETIC HETEROGENEITY AND ALLELISM WITH ADCME. 158
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 158
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 158
Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes. 157
White matter involvement in a family with a novel PDGFB mutation 157
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation 156
Progressive myoclonic epilepsies Definitive and still undetermined causes 156
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. 156
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons 156
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 156
Polygenic burden in focal and generalized epilepsies 156
Epilepsy: a 'going ape' model for SUDEP? 155
Totale 19.681
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Categoria #
all - tutte 179.752
article - articoli 174.947
book - libri 119
conference - conferenze 3.882
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 804
Totale 359.504
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20224.011 273 165 458 260 152 225 195 877 184 435 244 543
2022/20233.643 460 223 51 338 533 614 43 298 644 33 347 59
2023/20242.261 144 274 50 234 177 381 126 120 130 137 160 328
2024/20257.667 247 517 158 455 967 790 833 1.081 447 442 821 909
2025/202615.754 1.589 495 1.732 1.134 1.807 1.192 2.151 730 1.116 1.290 1.119 1.399
2026/20271.579 1.579 0 0 0 0 0 0 0 0 0 0 0
Totale 51.744