IRIS
ZARA, FEDERICO
 Distribuzione geografica
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Continente #
EU - Europa 39.552
AS - Asia 5.087
NA - Nord America 3.214
SA - Sud America 445
AF - Africa 90
OC - Oceania 23
Continente sconosciuto - Info sul continente non disponibili 2
Totale 48.413
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Nazione #
IT - Italia 38.762
US - Stati Uniti d'America 3.024
SG - Singapore 2.042
CN - Cina 1.319
VN - Vietnam 827
FR - Francia 330
BD - Bangladesh 328
BR - Brasile 281
HK - Hong Kong 212
DE - Germania 104
AR - Argentina 80
CA - Canada 73
FI - Finlandia 70
MX - Messico 58
JP - Giappone 56
GB - Regno Unito 51
IN - India 44
IQ - Iraq 44
CH - Svizzera 41
NL - Olanda 41
ID - Indonesia 35
EC - Ecuador 25
ZA - Sudafrica 25
AU - Australia 22
JM - Giamaica 19
PH - Filippine 19
ES - Italia 16
PK - Pakistan 16
RU - Federazione Russa 16
SA - Arabia Saudita 16
MA - Marocco 14
TN - Tunisia 14
TR - Turchia 14
VE - Venezuela 14
IE - Irlanda 13
KR - Corea 13
RO - Romania 13
AT - Austria 12
JO - Giordania 11
PL - Polonia 11
CL - Cile 10
PY - Paraguay 10
TH - Thailandia 10
UA - Ucraina 10
KE - Kenya 9
CR - Costa Rica 8
LB - Libano 8
NP - Nepal 8
SE - Svezia 8
AL - Albania 7
CO - Colombia 7
IL - Israele 7
PE - Perù 7
AZ - Azerbaigian 6
TW - Taiwan 6
UZ - Uzbekistan 6
AE - Emirati Arabi Uniti 5
BH - Bahrain 5
BO - Bolivia 5
GE - Georgia 5
KG - Kirghizistan 5
PR - Porto Rico 5
RS - Serbia 5
SV - El Salvador 5
UY - Uruguay 5
BG - Bulgaria 4
DO - Repubblica Dominicana 4
HU - Ungheria 4
LT - Lituania 4
OM - Oman 4
SY - Repubblica araba siriana 4
TT - Trinidad e Tobago 4
BA - Bosnia-Erzegovina 3
BE - Belgio 3
BY - Bielorussia 3
CZ - Repubblica Ceca 3
DZ - Algeria 3
EG - Egitto 3
ET - Etiopia 3
GR - Grecia 3
HN - Honduras 3
KZ - Kazakistan 3
LC - Santa Lucia 3
MY - Malesia 3
NO - Norvegia 3
BW - Botswana 2
GA - Gabon 2
HR - Croazia 2
MD - Moldavia 2
MU - Mauritius 2
NG - Nigeria 2
NI - Nicaragua 2
PS - Palestinian Territory 2
SI - Slovenia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BS - Bahamas 1
CI - Costa d'Avorio 1
Totale 48.389
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Città #
Genova 20.285
Genoa 12.221
Rapallo 2.940
Vado Ligure 2.823
San Jose 970
Singapore 906
Ashburn 435
Lauterbourg 305
Ho Chi Minh City 284
Beijing 239
Hong Kong 202
Council Bluffs 199
Hanoi 174
New York 160
Los Angeles 86
Frankfurt am Main 83
Santa Clara 77
Bordighera 66
Helsinki 61
Milan 58
Haiphong 46
Tokyo 40
Mexico City 35
Buffalo 34
Zurich 33
Rome 32
Chicago 30
Da Nang 30
Tianjin 29
Boardman 25
Hải Dương 23
Orem 21
St Louis 21
São Paulo 21
Dallas 20
Bologna 18
Toronto 18
Cardiff 17
Amsterdam 16
Biên Hòa 15
City of London 15
Naples 15
San Francisco 15
Shanghai 15
Montreal 14
Atlanta 13
Kingston 13
Phoenix 13
Turin 13
Baghdad 12
Florence 12
Piscataway 12
Quảng Ngãi 12
Dublin 11
Quito 11
Bari 10
Houston 10
Johannesburg 10
Amman 9
Brooklyn 9
Can Tho 9
Chennai 9
Madrid 9
Memphis 9
Nairobi 9
Thái Nguyên 9
Boston 8
Cape Town 8
Lappeenranta 8
Ninh Bình 8
Nuremberg 8
Rio de Janeiro 8
Guayaquil 7
Jakarta 7
Jeddah 7
Messina 7
Mumbai 7
Santiago 7
Thái Bình 7
Tirana 7
Warsaw 7
Asunción 6
Baku 6
Bucharest 6
Charlotte 6
Des Moines 6
Dhaka 6
Guangzhou 6
Lima 6
London 6
Paris 6
Porto Alegre 6
San José 6
Verona 6
Washington 6
Bandung 5
Bangkok 5
Basra 5
Belo Horizonte 5
Columbus 5
Totale 43.616
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Nome #
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. 1.404
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. 252
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 237
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 229
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 219
22-year-old girl with status epilepticus and progressive neurological symptoms. 218
A novel SCN2A mutation in family with benign familial infantile seizures. 215
Clinical and molecular consequences of exon 78 deletion in DMD gene 214
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 211
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity 208
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery 206
Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. 204
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 200
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 197
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 196
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 196
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 195
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 193
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. 191
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures. 190
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 190
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 187
Do regulatory regions matter in FOXG1 duplications? 186
Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy. 185
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations 185
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). 184
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 184
Clinical and genetic findings in 26 Italian patients with Lafora disease. 183
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 183
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 183
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 182
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons 182
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 180
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 180
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. 179
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity. 179
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 179
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 179
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 178
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 178
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. 177
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 177
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 177
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 177
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 176
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 176
Sudden death in Unverricht-Lundborg patients: is serotonin the key? 175
Epileptic myoclonus as ciprofloxacin-associated adverse effect. 175
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 175
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 174
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis 173
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 172
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 171
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 171
De novo mutations in HCN1 cause early infantile epileptic encephalopathy 171
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 170
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 170
TBC1D24 genotype-phenotype correlation 169
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 168
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 167
Chiari malformation type I: what information from the genetics? 167
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures 166
Phenotypic characterization of hypomyelination and congenital cataract 165
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 165
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. 165
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 164
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy 164
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function. 163
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 163
Willful modulation of brain activity in disorders of consciousness. 162
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 162
Epileptic seizures can follow high doses of oral vardenafil. 161
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 161
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 161
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 161
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 161
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 161
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 161
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 159
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 159
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 159
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 158
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 158
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 157
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY: GENETIC HETEROGENEITY AND ALLELISM WITH ADCME. 155
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 155
White matter involvement in a family with a novel PDGFB mutation 154
Refractory, life-threatening status epilepticus in a 3-year-old girl. 154
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. 154
Epilepsy: a 'going ape' model for SUDEP? 153
Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes. 153
Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. 153
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 153
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons 153
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 153
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors 153
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 152
Progressive myoclonic epilepsies Definitive and still undetermined causes 152
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 152
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation 151
Totale 18.815
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Categoria #
all - tutte 170.784
article - articoli 166.200
book - libri 116
conference - conferenze 3.692
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 776
Totale 341.568
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021225 0 0 0 0 0 0 0 0 0 0 0 225
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
2025/202614.782 1.589 495 1.732 1.134 1.807 1.192 2.151 730 1.116 1.290 1.119 427
Totale 49.193