MARINI, CARLA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 7.549
EU - Europa 2.900
AS - Asia 1.734
SA - Sud America 307
OC - Oceania 53
AF - Africa 41
Continente sconosciuto - Info sul continente non disponibili 5
Totale 12.589
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 7.492
RU - Federazione Russa 1.376
SG - Singapore 594
HK - Hong Kong 447
IE - Irlanda 380
IT - Italia 342
BR - Brasile 266
CN - Cina 231
KR - Corea 217
SE - Svezia 215
PL - Polonia 144
DE - Germania 80
CH - Svizzera 79
FI - Finlandia 75
IN - India 69
UA - Ucraina 62
VN - Vietnam 59
GB - Regno Unito 56
AU - Australia 53
TR - Turchia 30
CA - Canada 25
ES - Italia 24
AR - Argentina 21
MX - Messico 19
FR - Francia 18
CI - Costa d'Avorio 14
JP - Giappone 13
AT - Austria 12
JO - Giordania 12
IQ - Iraq 11
NL - Olanda 11
BD - Bangladesh 10
ZA - Sudafrica 10
BY - Bielorussia 9
BE - Belgio 8
EC - Ecuador 8
ID - Indonesia 6
MA - Marocco 6
LT - Lituania 5
VE - Venezuela 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
EU - Europa 4
SA - Arabia Saudita 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
UZ - Uzbekistan 4
KZ - Kazakistan 3
NP - Nepal 3
PK - Pakistan 3
BB - Barbados 2
CO - Colombia 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
IL - Israele 2
IR - Iran 2
KW - Kuwait 2
MU - Mauritius 2
PA - Panama 2
PE - Perù 2
PS - Palestinian Territory 2
SC - Seychelles 2
BH - Bahrain 1
CL - Cile 1
CZ - Repubblica Ceca 1
DM - Dominica 1
GI - Gibilterra 1
GY - Guiana 1
HN - Honduras 1
JM - Giamaica 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
NG - Nigeria 1
NO - Norvegia 1
PY - Paraguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 12.589
Salva come PNG Salva come JPEG
Città #
Santa Clara 1.916
Fairfield 1.014
Ashburn 535
Woodbridge 421
Singapore 416
Seattle 385
Cambridge 383
Dublin 379
Hong Kong 366
Houston 354
Wilmington 285
Chandler 273
Seoul 216
Ann Arbor 165
Lawrence 144
Warsaw 144
Altamura 138
Princeton 119
Jacksonville 103
Beijing 79
Boston 76
Bern 72
Buffalo 70
Los Angeles 70
Mumbai 59
Clifton 53
Medford 51
Melbourne 51
Florence 48
Moscow 48
San Diego 46
Boardman 41
Dallas 30
The Dalles 30
Falls Church 23
New York 23
Shanghai 23
Izmir 22
Ho Chi Minh City 20
Barcelona 19
Hefei 19
Redondo Beach 18
Milan 17
Andover 16
Abidjan 14
Hanoi 14
Kent 14
São Paulo 14
Yubileyny 13
Helsinki 12
Rio de Janeiro 12
Tokyo 12
Toronto 11
Chicago 10
Norwalk 10
Johannesburg 9
London 9
Minsk 9
Brussels 8
Hillsboro 8
Vienna 8
Montreal 7
Nuremberg 7
Paris 7
Zurich 7
Brooklyn 6
Campinas 6
Falkenstein 6
Fortaleza 6
Frankfurt am Main 6
Phoenix 6
San Francisco 6
Belo Horizonte 5
Biên Hòa 5
Guangzhou 5
Jakarta 5
Mexico City 5
Munich 5
Quito 5
Selargius 5
Baghdad 4
Brasília 4
Curitiba 4
Dong Ket 4
Goiânia 4
Haiphong 4
Joinville 4
Lecce 4
Porto Alegre 4
Redmond 4
Tashkent 4
Angra dos Reis 3
Atlanta 3
Baku 3
Bari 3
Columbus 3
Dhaka 3
Gravataí 3
Natal 3
Olinda 3
Totale 9.148
Salva come PNG Salva come JPEG
Nome #
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 295
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 200
Climate change and epilepsy: Insights from clinical and basic science studies 189
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations 184
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 176
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 167
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 161
Genetic malformations of cortical development. 155
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 154
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. 153
Can we increase the likelihood of success for future association studies in epilepsy? 153
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy 151
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 150
Atypical face shape and genomic structural variants in epilepsy 146
Pitfalls in genetic testing: the story of missed SCN1A mutations 145
Protocadherin 19 mutations in girls with infantile-onset epilepsy 144
Diagnostic implications of genetic copy number variation in epilepsy plus. 144
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 143
Definition and diagnostic criteria of sleep-related hypermotor epilepsy 141
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency 140
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 139
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 138
The phenotypic spectrum of SCN8A encephalopathy 136
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 135
A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding 135
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene 134
The genetics of Dravet syndrome 134
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 134
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 132
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet 132
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 132
Defining the electroclinical phenotype and outcome of PCDH19 - related epilepsy : A multicenter Study 132
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 131
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 131
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia and hemiplegic migraine. 130
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features 130
Phenotypic spectrum of GABRA1 129
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. 128
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation 126
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. 125
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review 125
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 125
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 125
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients 124
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. 123
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 123
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 123
Intracortical hyperexcitability in humans with a GABAA receptor mutation 123
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 122
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 121
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. 121
Do mutations in SCN1B cause Dravet syndrome? 121
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy 120
A de novo mutation in sporadic nocturnal frontal lobe epilepsy 120
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 119
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 118
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations 118
The phenotype of SCN8A developmental and epileptic encephalopathy 117
Generalized epilepsies 117
Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas 117
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. 116
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function 115
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: Is there overlap? 114
Polygenic burden in focal and generalized epilepsies 114
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 110
Early and effective treatment of KCNQ2 encephalopathy 110
EEG in adult-onset idiopathic generalized epilepsy 110
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation 110
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 109
Na+channelopathies and epilepsy: Recent advances and new perspectives 109
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families 106
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life 106
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 105
Colpocephaly in two siblings: further evidence of a genetic transmission 105
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms 105
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 104
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. 103
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 103
Familial clustering of seizure types within the idiopathic generalized epilepsies 102
Partial epilepsy of long duration: changing semiology with age 102
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. 102
Genetics of epilepsy: epilepsy research foundation workshop report. 102
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy 101
Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder 99
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy 98
Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis 98
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance 96
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 96
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 96
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy 95
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies 94
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome 93
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects 92
Focal seizures with affective symptoms are a major feature of PCDH19-gene-related epilepsy. 91
Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy 91
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics 87
Clinical spectrum of SCN1A mutations 86
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families 83
Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden 77
Distinguishing sleep disorders from seizures: diagnosing bumps in the night 74
Totale 12.365
Salva come PNG Salva come JPEG
Categoria #
all - tutte 37.191
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 37.191
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021515 0 0 0 0 0 62 40 74 92 118 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
2025/20261.950 442 566 266 190 423 63 0 0 0 0 0 0
Totale 12.716