IRIS
ZARA, FEDERICO
 Distribuzione geografica
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Continente #
EU - Europa 39.984
NA - Nord America 6.145
AS - Asia 5.681
Continente sconosciuto - Info sul continente non disponibili 824
SA - Sud America 528
AF - Africa 99
OC - Oceania 25
Totale 53.286
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Nazione #
IT - Italia 39.123
US - Stati Uniti d'America 5.755
SG - Singapore 2.056
CN - Cina 1.355
VN - Vietnam 836
BD - Bangladesh 813
FR - Francia 338
BR - Brasile 305
HK - Hong Kong 220
CA - Canada 157
DE - Germania 109
AR - Argentina 92
FI - Finlandia 70
MX - Messico 67
GB - Regno Unito 61
JP - Giappone 61
NL - Olanda 48
IN - India 46
CH - Svizzera 45
IQ - Iraq 44
JM - Giamaica 44
ID - Indonesia 43
EC - Ecuador 34
CR - Costa Rica 28
PH - Filippine 27
ZA - Sudafrica 26
VE - Venezuela 25
CO - Colombia 24
AU - Australia 23
ES - Italia 21
PK - Pakistan 19
PL - Polonia 18
RU - Federazione Russa 16
SA - Arabia Saudita 16
SE - Svezia 16
TR - Turchia 16
TN - Tunisia 15
CL - Cile 14
IE - Irlanda 14
KR - Corea 14
MA - Marocco 14
RO - Romania 14
SV - El Salvador 14
UA - Ucraina 14
GT - Guatemala 13
AT - Austria 12
HN - Honduras 12
TH - Thailandia 12
JO - Giordania 11
TT - Trinidad e Tobago 11
KE - Kenya 10
NP - Nepal 10
PR - Porto Rico 10
PY - Paraguay 10
LB - Libano 9
NI - Nicaragua 9
PE - Perù 9
AL - Albania 8
BO - Bolivia 7
IL - Israele 7
MY - Malesia 7
AE - Emirati Arabi Uniti 6
AZ - Azerbaigian 6
BB - Barbados 6
BE - Belgio 6
HU - Ungheria 6
SC - Seychelles 6
TW - Taiwan 6
UY - Uruguay 6
UZ - Uzbekistan 6
BH - Bahrain 5
GE - Georgia 5
KG - Kirghizistan 5
RS - Serbia 5
SY - Repubblica araba siriana 5
BA - Bosnia-Erzegovina 4
BG - Bulgaria 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
KZ - Kazakistan 4
LT - Lituania 4
OM - Oman 4
CZ - Repubblica Ceca 3
DZ - Algeria 3
EG - Egitto 3
ET - Etiopia 3
GR - Grecia 3
LC - Santa Lucia 3
NO - Norvegia 3
PT - Portogallo 3
AG - Antigua e Barbuda 2
AM - Armenia 2
BM - Bermuda 2
BS - Bahamas 2
BW - Botswana 2
BZ - Belize 2
CW - ???statistics.table.value.countryCode.CW??? 2
GA - Gabon 2
GY - Guiana 2
HR - Croazia 2
Totale 52.428
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Città #
Genova 20.285
Genoa 12.238
Rapallo 2.940
Vado Ligure 2.823
San Jose 1.299
Singapore 915
Ashburn 737
Lauterbourg 305
Ho Chi Minh City 287
Beijing 262
New York 212
Hong Kong 206
Council Bluffs 203
Hanoi 177
Los Angeles 156
Santa Clara 132
Milan 100
Frankfurt am Main 84
Dallas 79
Chicago 71
Bordighera 66
Buffalo 63
Elk Grove Village 63
Rome 62
Helsinki 61
Phoenix 59
Haiphong 46
Tokyo 45
Mexico City 39
Zurich 35
Montreal 34
Naples 33
Houston 31
Orem 31
Da Nang 30
Tianjin 29
Atlanta 28
San Francisco 28
Toronto 28
Boardman 26
Kingston 26
St Louis 26
Washington 26
Florence 25
Philadelphia 25
San José 25
Bologna 24
Brooklyn 24
São Paulo 24
Hải Dương 23
Queens 23
Turin 19
Bari 17
Boston 17
Cardiff 17
Shanghai 17
The Bronx 17
Amsterdam 16
Biên Hòa 15
City of London 15
Memphis 15
Charlotte 14
Jacksonville 14
Quito 14
Seattle 14
Denver 13
San Salvador 13
Warsaw 13
Arlington 12
Baghdad 12
Cagliari 12
Columbus 12
Dublin 12
Madrid 12
Newark 12
Piscataway 12
Quảng Ngãi 12
Detroit 11
Johannesburg 11
Las Vegas 11
London 11
Minneapolis 11
Chennai 10
Louisville 10
Miami 10
San Antonio 10
Stockholm 10
Amman 9
Can Tho 9
Fredericksburg 9
Guatemala City 9
Huntsville 9
Kansas City 9
Managua 9
Messina 9
Nairobi 9
Nuremberg 9
Palermo 9
Thái Nguyên 9
Verona 9
Totale 45.209
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Nome #
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. 1.413
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery 590
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. 261
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 247
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 240
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 238
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 235
22-year-old girl with status epilepticus and progressive neurological symptoms. 224
A novel SCN2A mutation in family with benign familial infantile seizures. 224
Clinical and molecular consequences of exon 78 deletion in DMD gene 220
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity 219
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 213
Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. 209
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 208
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 205
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 203
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 202
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 201
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 198
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 196
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures. 196
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. 196
Do regulatory regions matter in FOXG1 duplications? 194
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations 192
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 191
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 190
Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy. 190
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). 189
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 189
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 189
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons 189
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 189
Clinical and genetic findings in 26 Italian patients with Lafora disease. 188
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 187
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 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
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 184
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. 183
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity. 183
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 183
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 183
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 182
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 182
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 182
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 181
Epileptic myoclonus as ciprofloxacin-associated adverse effect. 181
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 181
De novo mutations in HCN1 cause early infantile epileptic encephalopathy 181
Sudden death in Unverricht-Lundborg patients: is serotonin the key? 180
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 180
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. 179
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 179
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 179
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures 179
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 179
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 178
TBC1D24 genotype-phenotype correlation 177
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis 177
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 176
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors 176
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 175
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 175
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 175
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 174
Phenotypic characterization of hypomyelination and congenital cataract 172
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy 172
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 171
Chiari malformation type I: what information from the genetics? 171
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. 170
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 169
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 169
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 169
Epileptic seizures can follow high doses of oral vardenafil. 168
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function. 168
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 168
Willful modulation of brain activity in disorders of consciousness. 167
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 167
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 167
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 165
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 165
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 165
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 164
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 164
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 164
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 164
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 163
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY: GENETIC HETEROGENEITY AND ALLELISM WITH ADCME. 162
White matter involvement in a family with a novel PDGFB mutation 161
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 161
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 160
Refractory, life-threatening status epilepticus in a 3-year-old girl. 160
Polygenic burden in focal and generalized epilepsies 160
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. 159
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons 159
Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. 158
Autosomal Dominant Cortical Myoclonus and Epilepsy 158
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation 158
Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes. 157
Progressive myoclonic epilepsies Definitive and still undetermined causes 157
Totale 19.949
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Categoria #
all - tutte 187.476
article - articoli 182.389
book - libri 123
conference - conferenze 4.132
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 832
Totale 374.952
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20223.573 0 0 458 260 152 225 195 877 184 435 244 543
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
2025/202615.743 1.589 495 1.732 1.134 1.807 1.192 2.151 730 1.116 1.290 1.117 1.390
2026/20273.132 1.938 708 486 0 0 0 0 0 0 0 0 0
Totale 53.286