MARINI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.932
EU - Europa 2.428
AS - Asia 715
OC - Oceania 53
SA - Sud America 28
AF - Africa 20
Continente sconosciuto - Info sul continente non disponibili 4
Totale 10.180
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Nazione #
US - Stati Uniti d'America 6.918
RU - Federazione Russa 1.025
IE - Irlanda 379
IT - Italia 318
SG - Singapore 279
HK - Hong Kong 230
SE - Svezia 212
PL - Polonia 138
CN - Cina 93
CH - Svizzera 78
FI - Finlandia 72
DE - Germania 62
UA - Ucraina 59
IN - India 57
AU - Australia 53
GB - Regno Unito 38
TR - Turchia 25
BR - Brasile 22
ES - Italia 20
CI - Costa d'Avorio 14
CA - Canada 12
JO - Giordania 12
BE - Belgio 7
AT - Austria 6
FR - Francia 5
ID - Indonesia 5
NL - Olanda 5
EU - Europa 4
VN - Vietnam 4
EC - Ecuador 3
JP - Giappone 3
AR - Argentina 2
IR - Iran 2
MA - Marocco 2
MU - Mauritius 2
MX - Messico 2
SC - Seychelles 2
CZ - Repubblica Ceca 1
IQ - Iraq 1
KR - Corea 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
NO - Norvegia 1
NP - Nepal 1
SA - Arabia Saudita 1
VE - Venezuela 1
Totale 10.180
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Città #
Santa Clara 1.908
Fairfield 1.014
Woodbridge 421
Cambridge 383
Seattle 383
Dublin 379
Ashburn 377
Houston 352
Wilmington 284
Chandler 273
Ann Arbor 165
Singapore 165
Hong Kong 149
Lawrence 144
Altamura 138
Warsaw 138
Princeton 119
Jacksonville 102
Boston 74
Bern 72
Mumbai 57
Medford 51
Melbourne 51
Florence 48
San Diego 46
Boardman 40
Beijing 30
Moscow 29
Buffalo 25
Falls Church 23
Izmir 22
Shanghai 22
Barcelona 19
Andover 16
Abidjan 14
Milan 14
Yubileyny 13
Helsinki 12
Kent 12
Toronto 11
New York 10
Norwalk 10
Los Angeles 9
Hillsboro 8
Brussels 7
Falkenstein 6
Zurich 6
Jakarta 5
London 5
Selargius 5
Vienna 5
Dong Ket 4
Lecce 4
Redmond 4
Guangzhou 3
Prato Sesia 3
São Paulo 3
The Dalles 3
Bari 2
Bologna 2
Brasília 2
Bremen 2
Campoformido 2
Carimate 2
Como 2
Cuernavaca 2
Dearborn 2
Düsseldorf 2
Itri 2
Jinan 2
Naaldwijk 2
New Bedfont 2
Oxford 2
Presezzo 2
Rome 2
Romola 2
San Jose 2
San Mateo 2
Sydney 2
Tokyo 2
Turin 2
Verona 2
Adana 1
Amman 1
Anzio 1
Aparecida de Goiânia 1
Assis 1
Auburn Hills 1
Bacabal 1
Baoding 1
Belo Horizonte 1
Beni Mellal 1
Birmingham 1
Blumenau 1
Brno 1
Cagliari 1
Caratinga 1
Carpenedolo 1
Castel Bolognese 1
Caxias do Sul 1
Totale 7.761
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Nome #
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 254
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 160
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations 158
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 143
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 138
Genetic malformations of cortical development. 134
Can we increase the likelihood of success for future association studies in epilepsy? 133
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 128
Protocadherin 19 mutations in girls with infantile-onset epilepsy 127
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. 126
Pitfalls in genetic testing: the story of missed SCN1A mutations 126
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 126
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy 122
Atypical face shape and genomic structural variants in epilepsy 122
Definition and diagnostic criteria of sleep-related hypermotor epilepsy 122
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 121
Diagnostic implications of genetic copy number variation in epilepsy plus. 120
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 120
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 120
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene 118
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency 118
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 117
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 116
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia and hemiplegic migraine. 115
The phenotypic spectrum of SCN8A encephalopathy 115
A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding 114
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 113
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 111
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. 111
Defining the electroclinical phenotype and outcome of PCDH19 - related epilepsy : A multicenter Study 111
Phenotypic spectrum of GABRA1 110
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients 109
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 109
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 108
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. 108
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet 108
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 106
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. 106
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. 105
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 104
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features 104
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 104
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 104
The genetics of Dravet syndrome 103
Intracortical hyperexcitability in humans with a GABAA receptor mutation 103
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 102
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 102
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. 102
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function 101
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 101
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy 100
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations 100
Do mutations in SCN1B cause Dravet syndrome? 99
Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas 99
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 97
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 96
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: Is there overlap? 96
A de novo mutation in sporadic nocturnal frontal lobe epilepsy 96
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 95
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 94
Early and effective treatment of KCNQ2 encephalopathy 93
EEG in adult-onset idiopathic generalized epilepsy 93
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms 93
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation 93
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. 92
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 91
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review 91
Climate change and epilepsy: Insights from clinical and basic science studies 91
The phenotype of SCN8A developmental and epileptic encephalopathy 90
Familial clustering of seizure types within the idiopathic generalized epilepsies 89
Na+channelopathies and epilepsy: Recent advances and new perspectives 88
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 87
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 87
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. 87
Colpocephaly in two siblings: further evidence of a genetic transmission 86
Genetics of epilepsy: epilepsy research foundation workshop report. 85
Polygenic burden in focal and generalized epilepsies 85
Partial epilepsy of long duration: changing semiology with age 84
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families 82
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life 82
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation 81
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance 80
Generalized epilepsies 80
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies 80
Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis 80
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy 79
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy 74
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 74
Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder 74
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 74
Focal seizures with affective symptoms are a major feature of PCDH19-gene-related epilepsy. 73
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects 73
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics 71
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy 70
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome 69
Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy 67
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families 64
Clinical spectrum of SCN1A mutations 62
Reading epilepsy in a patient with previous idiopathic focal epilepsy with centrotemporal spikes 58
Distinguishing sleep disorders from seizures: diagnosing bumps in the night 56
Totale 10.138
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Categoria #
all - tutte 29.547
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 29.547
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020474 0 0 0 0 0 0 0 0 205 73 144 52
2020/2021891 93 66 64 105 48 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
2024/20253.862 155 382 315 517 1.760 495 44 129 65 0 0 0
Totale 10.307