MARINI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 8.431
EU - Europa 3.055
AS - Asia 2.352
SA - Sud America 349
AF - Africa 60
OC - Oceania 53
Continente sconosciuto - Info sul continente non disponibili 5
Totale 14.305
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Nazione #
US - Stati Uniti d'America 8.352
RU - Federazione Russa 1.377
SG - Singapore 794
HK - Hong Kong 460
CN - Cina 387
IE - Irlanda 381
IT - Italia 363
BR - Brasile 288
VN - Vietnam 235
KR - Corea 217
SE - Svezia 215
PL - Polonia 145
FR - Francia 115
FI - Finlandia 88
DE - Germania 85
IN - India 83
CH - Svizzera 79
UA - Ucraina 63
GB - Regno Unito 60
AU - Australia 53
CA - Canada 31
TR - Turchia 31
MX - Messico 29
AR - Argentina 28
ES - Italia 27
BD - Bangladesh 20
JP - Giappone 18
IQ - Iraq 16
AT - Austria 15
CI - Costa d'Avorio 14
JO - Giordania 14
PK - Pakistan 13
BY - Bielorussia 11
EC - Ecuador 11
NL - Olanda 11
ZA - Sudafrica 10
MA - Marocco 9
BE - Belgio 8
PH - Filippine 8
AZ - Azerbaigian 7
ID - Indonesia 7
VE - Venezuela 7
UZ - Uzbekistan 6
KZ - Kazakistan 5
LT - Lituania 5
NG - Nigeria 5
SA - Arabia Saudita 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
EG - Egitto 4
EU - Europa 4
JM - Giamaica 4
NP - Nepal 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
CO - Colombia 3
DO - Repubblica Dominicana 3
IL - Israele 3
KE - Kenya 3
KW - Kuwait 3
PS - Palestinian Territory 3
BB - Barbados 2
DZ - Algeria 2
ET - Etiopia 2
IR - Iran 2
MU - Mauritius 2
PA - Panama 2
PE - Perù 2
PY - Paraguay 2
SC - Seychelles 2
UY - Uruguay 2
AM - Armenia 1
BH - Bahrain 1
BJ - Benin 1
BO - Bolivia 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DM - Dominica 1
GI - Gibilterra 1
GR - Grecia 1
GY - Guiana 1
HN - Honduras 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LV - Lettonia 1
MD - Moldavia 1
ML - Mali 1
MM - Myanmar 1
NI - Nicaragua 1
NO - Norvegia 1
SM - San Marino 1
SN - Senegal 1
TW - Taiwan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 14.305
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Città #
Santa Clara 1.923
Fairfield 1.014
Ashburn 782
Singapore 593
Woodbridge 421
San Jose 400
Seattle 386
Cambridge 383
Dublin 380
Hong Kong 372
Houston 355
Wilmington 285
Chandler 273
Seoul 216
Ann Arbor 165
Warsaw 145
Lawrence 144
Altamura 138
Princeton 119
Jacksonville 103
The Dalles 94
Lauterbourg 93
Beijing 87
Ho Chi Minh City 80
Los Angeles 79
Boston 76
Bern 72
Buffalo 70
Hanoi 63
Mumbai 60
Clifton 53
Medford 51
Melbourne 51
Florence 48
Moscow 48
San Diego 46
Boardman 42
Council Bluffs 40
Dallas 36
New York 28
Shanghai 26
Helsinki 25
Falls Church 23
Izmir 22
Barcelona 20
Hefei 19
Milan 18
Redondo Beach 18
Andover 16
Tokyo 15
Abidjan 14
Kent 14
São Paulo 14
Guangzhou 13
Rio de Janeiro 13
Yubileyny 13
San Francisco 12
Chicago 11
Minsk 11
Toronto 11
Vienna 11
Frankfurt am Main 10
Haiphong 10
London 10
Norwalk 10
Paris 10
Johannesburg 9
Orem 9
Phoenix 9
Biên Hòa 8
Brussels 8
Da Nang 8
Hillsboro 8
Montreal 8
Baghdad 7
Campinas 7
Dhaka 7
Mexico City 7
Nuremberg 7
Quito 7
Zurich 7
Belo Horizonte 6
Brooklyn 6
Falkenstein 6
Fortaleza 6
Tashkent 6
Atlanta 5
Baku 5
Jakarta 5
Munich 5
Selargius 5
Abuja 4
Brasília 4
Can Tho 4
Caracas 4
Curitiba 4
Dong Ket 4
Goiânia 4
Joinville 4
Kingston 4
Totale 10.410
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Nome #
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 319
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations 219
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 209
Climate change and epilepsy: Insights from clinical and basic science studies 209
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 198
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 186
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 181
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy 176
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 172
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 171
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. 169
Pitfalls in genetic testing: the story of missed SCN1A mutations 169
Atypical face shape and genomic structural variants in epilepsy 167
Diagnostic implications of genetic copy number variation in epilepsy plus. 167
Definition and diagnostic criteria of sleep-related hypermotor epilepsy 167
Genetic malformations of cortical development. 166
Can we increase the likelihood of success for future association studies in epilepsy? 164
Protocadherin 19 mutations in girls with infantile-onset epilepsy 163
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 162
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency 158
The genetics of Dravet syndrome 157
Defining the electroclinical phenotype and outcome of PCDH19 - related epilepsy : A multicenter Study 156
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 155
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 154
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 151
Phenotypic spectrum of GABRA1 150
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 149
The phenotypic spectrum of SCN8A encephalopathy 149
A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding 149
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene 148
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features 148
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet 148
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. 147
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation 147
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 147
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 146
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients 145
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 145
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. 144
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 143
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia and hemiplegic migraine. 142
A de novo mutation in sporadic nocturnal frontal lobe epilepsy 142
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 140
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 140
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 139
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 139
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review 139
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. 138
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 138
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function 138
Intracortical hyperexcitability in humans with a GABAA receptor mutation 138
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 137
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 137
Generalized epilepsies 136
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. 135
Early and effective treatment of KCNQ2 encephalopathy 135
Do mutations in SCN1B cause Dravet syndrome? 135
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 135
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations 134
The phenotype of SCN8A developmental and epileptic encephalopathy 133
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy 132
Polygenic burden in focal and generalized epilepsies 132
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: Is there overlap? 130
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. 130
Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas 129
Na+channelopathies and epilepsy: Recent advances and new perspectives 127
Colpocephaly in two siblings: further evidence of a genetic transmission 126
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation 122
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy 121
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms 121
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 120
Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder 120
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families 120
EEG in adult-onset idiopathic generalized epilepsy 119
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 118
Partial epilepsy of long duration: changing semiology with age 117
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 116
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy 116
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 115
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 114
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. 114
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy 113
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life 113
Genetics of epilepsy: epilepsy research foundation workshop report. 112
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies 112
Clinical spectrum of SCN1A mutations 111
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 111
Familial clustering of seizure types within the idiopathic generalized epilepsies 110
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects 109
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. 108
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome 108
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 108
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance 106
Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy 106
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics 105
Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis 104
Focal seizures with affective symptoms are a major feature of PCDH19-gene-related epilepsy. 102
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families 97
Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden 96
Distinguishing sleep disorders from seizures: diagnosing bumps in the night 92
Totale 14.002
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Categoria #
all - tutte 40.937
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 40.937
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021129 0 0 0 0 0 0 0 0 0 0 90 39
2021/2022739 18 80 115 6 20 22 32 63 51 9 107 216
2022/20231.573 191 329 34 92 116 272 232 65 99 24 43 76
2023/2024345 15 44 104 17 22 27 13 58 5 11 20 9
2024/20254.321 155 382 315 517 1.760 495 44 129 247 99 109 69
2025/20263.670 442 566 266 190 423 166 637 198 468 258 56 0
Totale 14.436