MARINI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 8.576
EU - Europa 3.749
AS - Asia 2.369
SA - Sud America 349
AF - Africa 60
OC - Oceania 53
Continente sconosciuto - Info sul continente non disponibili 5
Totale 15.161
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Nazione #
US - Stati Uniti d'America 8.490
RU - Federazione Russa 1.377
IT - Italia 1.056
SG - Singapore 796
HK - Hong Kong 462
CN - Cina 389
IE - Irlanda 381
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 36
BD - Bangladesh 31
TR - Turchia 31
MX - Messico 30
AR - Argentina 28
ES - Italia 27
JP - Giappone 18
IQ - Iraq 16
AT - Austria 15
CI - Costa d'Avorio 14
JO - Giordania 14
PK - Pakistan 13
NL - Olanda 12
BY - Bielorussia 11
EC - Ecuador 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
JM - Giamaica 5
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
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 15.161
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Città #
Santa Clara 1.929
Fairfield 1.014
Ashburn 847
Singapore 595
Woodbridge 421
San Jose 400
Seattle 386
Cambridge 383
Dublin 380
Hong Kong 374
Houston 355
Wilmington 285
Chandler 273
Milan 233
Seoul 216
Ann Arbor 165
Warsaw 145
Lawrence 144
Altamura 138
Princeton 119
Los Angeles 104
Jacksonville 103
The Dalles 94
Lauterbourg 93
Beijing 88
Ho Chi Minh City 80
Rome 78
Boston 76
Bern 72
Buffalo 71
Hanoi 63
Mumbai 60
Florence 58
Clifton 53
Medford 51
Melbourne 51
Moscow 48
San Diego 46
Boardman 42
Council Bluffs 40
Dallas 36
New York 32
Shanghai 26
Helsinki 25
Falls Church 23
Izmir 22
Bologna 21
Barcelona 20
Naples 20
Hefei 19
Turin 19
Redondo Beach 18
Andover 16
Tokyo 15
Abidjan 14
Kent 14
Miano 14
São Paulo 14
Figino 13
Guangzhou 13
Rio de Janeiro 13
Toronto 13
Yubileyny 13
Chicago 12
San Francisco 12
Minsk 11
Vienna 11
Bari 10
Frankfurt am Main 10
Genoa 10
Haiphong 10
London 10
Norwalk 10
Padua 10
Paris 10
Hillsboro 9
Johannesburg 9
Orem 9
Phoenix 9
Biên Hòa 8
Brussels 8
Catania 8
Da Nang 8
Montreal 8
Baghdad 7
Brescia 7
Campinas 7
Dhaka 7
Mexico City 7
Nuremberg 7
Quito 7
Verona 7
Zurich 7
Belo Horizonte 6
Brooklyn 6
Falkenstein 6
Fortaleza 6
Palermo 6
Tashkent 6
Trento 6
Totale 10.913
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Nome #
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 323
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations 225
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 214
Climate change and epilepsy: Insights from clinical and basic science studies 214
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 212
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy 206
Definition and diagnostic criteria of sleep-related hypermotor epilepsy 189
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 189
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 185
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 183
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 183
Pitfalls in genetic testing: the story of missed SCN1A mutations 181
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene 178
Protocadherin 19 mutations in girls with infantile-onset epilepsy 176
Genetic malformations of cortical development. 174
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 174
Atypical face shape and genomic structural variants in epilepsy 172
Diagnostic implications of genetic copy number variation in epilepsy plus. 172
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. 171
Can we increase the likelihood of success for future association studies in epilepsy? 169
The genetics of Dravet syndrome 167
Defining the electroclinical phenotype and outcome of PCDH19 - related epilepsy : A multicenter Study 165
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 164
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency 164
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 163
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function 163
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 162
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 158
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 157
Phenotypic spectrum of GABRA1 156
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients 155
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features 154
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation 154
The phenotypic spectrum of SCN8A encephalopathy 154
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet 153
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 151
A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding 151
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 150
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 150
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. 149
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations 149
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 148
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 147
A de novo mutation in sporadic nocturnal frontal lobe epilepsy 147
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 147
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. 147
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 146
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review 146
Generalized epilepsies 146
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 146
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 145
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia and hemiplegic migraine. 144
Intracortical hyperexcitability in humans with a GABAA receptor mutation 144
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 143
Early and effective treatment of KCNQ2 encephalopathy 143
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 141
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. 140
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: Is there overlap? 140
The phenotype of SCN8A developmental and epileptic encephalopathy 140
Do mutations in SCN1B cause Dravet syndrome? 140
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. 140
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 138
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. 138
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation 138
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 138
Na+channelopathies and epilepsy: Recent advances and new perspectives 135
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy 134
Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder 134
Polygenic burden in focal and generalized epilepsies 134
Colpocephaly in two siblings: further evidence of a genetic transmission 131
Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas 130
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy 127
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 126
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life 125
EEG in adult-onset idiopathic generalized epilepsy 124
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms 124
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome 124
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families 124
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy 123
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 122
Genetics of epilepsy: epilepsy research foundation workshop report. 122
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies 120
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. 119
Partial epilepsy of long duration: changing semiology with age 118
Clinical spectrum of SCN1A mutations 118
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 118
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 117
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 117
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy 116
Familial clustering of seizure types within the idiopathic generalized epilepsies 115
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects 114
Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden 113
Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy 113
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. 112
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families 111
Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis 111
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics 107
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance 106
Focal seizures with affective symptoms are a major feature of PCDH19-gene-related epilepsy. 105
Distinguishing sleep disorders from seizures: diagnosing bumps in the night 99
Totale 14.799
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Categoria #
all - tutte 43.558
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 43.558
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20264.524 442 566 266 190 423 166 637 198 468 258 84 826
2026/20272 2 0 0 0 0 0 0 0 0 0 0 0
Totale 15.292