MARINI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 4.731
EU - Europa 1.461
AS - Asia 323
AF - Africa 4
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 2
Totale 6.525
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Nazione #
US - Stati Uniti d'America 4.717
IE - Irlanda 378
IT - Italia 300
SE - Svezia 211
PL - Polonia 138
HK - Hong Kong 131
RU - Federazione Russa 113
CN - Cina 85
CH - Svizzera 72
SG - Singapore 64
FI - Finlandia 61
UA - Ucraina 59
DE - Germania 50
GB - Regno Unito 38
TR - Turchia 24
ES - Italia 20
CA - Canada 12
JO - Giordania 11
BE - Belgio 7
AT - Austria 5
FR - Francia 5
EU - Europa 4
VN - Vietnam 4
JP - Giappone 3
AU - Australia 2
MU - Mauritius 2
MX - Messico 2
NL - Olanda 2
SC - Seychelles 2
CZ - Repubblica Ceca 1
KR - Corea 1
NO - Norvegia 1
Totale 6.525
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Città #
Fairfield 1.014
Woodbridge 421
Cambridge 383
Seattle 383
Dublin 378
Ashburn 375
Houston 352
Wilmington 284
Chandler 273
Ann Arbor 165
Lawrence 144
Altamura 138
Warsaw 138
Princeton 119
Jacksonville 102
Boston 74
Bern 72
Medford 51
Hong Kong 50
Florence 48
San Diego 46
Boardman 40
Singapore 38
Beijing 30
Buffalo 25
Falls Church 23
Izmir 22
Shanghai 21
Barcelona 19
Andover 16
Kent 12
Toronto 11
New York 10
Norwalk 10
Hillsboro 8
Los Angeles 8
Brussels 7
Moscow 6
London 5
Milan 5
Selargius 5
Vienna 5
Dong Ket 4
Lecce 4
Redmond 4
Guangzhou 3
Prato Sesia 3
Bari 2
Bologna 2
Bremen 2
Como 2
Cuernavaca 2
Dearborn 2
Düsseldorf 2
Itri 2
Jinan 2
Naaldwijk 2
New Bedfont 2
Oxford 2
Presezzo 2
Rome 2
San Jose 2
San Mateo 2
Sydney 2
Tokyo 2
Turin 2
Verona 2
Anzio 1
Auburn Hills 1
Birmingham 1
Brno 1
Cagliari 1
Castel Bolognese 1
Chengdu 1
Chiswick 1
Dallas 1
Foggia 1
Fontebuona 1
Genoa 1
Haining 1
Hangzhou 1
Hebei 1
Helsinki 1
Heze 1
Hounslow 1
Izhevsk 1
Kilburn 1
Latina 1
Laurel 1
Mcallen 1
Molise 1
Montréal 1
Nanchang 1
Noicattaro 1
Old Bridge 1
Oslo 1
Padova 1
Phoenix 1
Prescot 1
Quzhou 1
Totale 5.427
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Nome #
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 198
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 113
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations 106
Genetic malformations of cortical development. 102
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 99
Protocadherin 19 mutations in girls with infantile-onset epilepsy 98
Pitfalls in genetic testing: the story of missed SCN1A mutations 97
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 94
Can we increase the likelihood of success for future association studies in epilepsy? 94
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency 92
Definition and diagnostic criteria of sleep-related hypermotor epilepsy 91
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. 88
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 88
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 88
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene 87
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy 87
Diagnostic implications of genetic copy number variation in epilepsy plus. 84
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 83
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 80
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia and hemiplegic migraine. 79
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 79
Defining the electroclinical phenotype and outcome of PCDH19 - related epilepsy : A multicenter Study 79
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 78
Atypical face shape and genomic structural variants in epilepsy 78
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 78
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 78
The phenotypic spectrum of SCN8A encephalopathy 78
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 77
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients 76
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. 76
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 76
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 75
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 74
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. 74
Intracortical hyperexcitability in humans with a GABAA receptor mutation 74
A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding 74
Phenotypic spectrum of GABRA1 72
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. 72
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 72
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 71
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. 69
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 69
Do mutations in SCN1B cause Dravet syndrome? 69
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations 69
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features 68
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet 68
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 67
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 66
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy 66
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 66
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 66
Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas 66
The genetics of Dravet syndrome 65
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: Is there overlap? 65
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 65
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms 64
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function 64
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 63
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 63
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 62
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. 61
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. 61
Early and effective treatment of KCNQ2 encephalopathy 59
Familial clustering of seizure types within the idiopathic generalized epilepsies 59
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation 59
A de novo mutation in sporadic nocturnal frontal lobe epilepsy 58
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 57
EEG in adult-onset idiopathic generalized epilepsy 56
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 56
Colpocephaly in two siblings: further evidence of a genetic transmission 55
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families 55
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review 54
Genetics of epilepsy: epilepsy research foundation workshop report. 53
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies 53
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. 52
Na+channelopathies and epilepsy: Recent advances and new perspectives 51
Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis 50
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance 49
Partial epilepsy of long duration: changing semiology with age 48
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy 47
Generalized epilepsies 46
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy 45
The phenotype of SCN8A developmental and epileptic encephalopathy 44
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 44
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics 42
Climate change and epilepsy: Insights from clinical and basic science studies 40
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation 39
Focal seizures with affective symptoms are a major feature of PCDH19-gene-related epilepsy. 37
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects 37
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome 36
Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy 33
Polygenic burden in focal and generalized epilepsies 33
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy 32
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life 31
Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder 30
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families 29
Reading epilepsy in a patient with previous idiopathic focal epilepsy with centrotemporal spikes 25
Clinical spectrum of SCN1A mutations 25
Distinguishing sleep disorders from seizures: diagnosing bumps in the night 24
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 23
Totale 6.567
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Categoria #
all - tutte 22.163
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 22.163
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.588 0 96 32 136 191 221 219 219 205 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
2024/2025206 155 51 0 0 0 0 0 0 0 0 0 0
Totale 6.651