IRIS
ZARA, FEDERICO
 Distribuzione geografica
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Continente #
EU - Europa 38.330
AS - Asia 168
SA - Sud America 19
NA - Nord America 10
AF - Africa 2
Totale 38.529
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Nazione #
IT - Italia 38.325
CN - Cina 140
SG - Singapore 19
BR - Brasile 17
US - Stati Uniti d'America 8
VN - Vietnam 6
FI - Finlandia 2
HK - Hong Kong 2
MA - Marocco 2
BA - Bosnia-Erzegovina 1
CA - Canada 1
EC - Ecuador 1
GY - Guiana 1
MX - Messico 1
NL - Olanda 1
SY - Repubblica araba siriana 1
UA - Ucraina 1
Totale 38.529
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Città #
Genova 20.285
Genoa 12.187
Rapallo 2.940
Vado Ligure 2.839
Beijing 75
Bordighera 66
Singapore 7
Ashburn 6
Milan 6
Ho Chi Minh City 3
Hong Kong 2
Lappeenranta 2
Los Angeles 2
Santa Teresa di Riva 2
Alpercata 1
Aracaju 1
Belo Horizonte 1
Bragança Paulista 1
Cícero Dantas 1
Da Nang 1
Embu das Artes 1
Extrema 1
Florianópolis 1
Georgetown 1
Goiânia 1
Guangzhou 1
Hanoi 1
Itu 1
Juatuba 1
Kyiv 1
Marrakesh 1
Mexico City 1
Petrolina 1
Quito 1
Rabat 1
Ribeirão Preto 1
Santiago 1
Santos 1
Sorocaba 1
São Luís 1
Thái Nguyên 1
Toronto 1
Xi'an 1
Zenica 1
Totale 38.452
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Nome #
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. 1.363
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. 225
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 200
A novel SCN2A mutation in family with benign familial infantile seizures. 199
22-year-old girl with status epilepticus and progressive neurological symptoms. 193
Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. 193
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 188
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures. 178
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. 177
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). 175
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 172
Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy. 172
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 171
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 170
Clinical and genetic findings in 26 Italian patients with Lafora disease. 170
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery 170
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 169
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 169
Clinical and molecular consequences of exon 78 deletion in DMD gene 169
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity. 168
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 168
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations 167
Do regulatory regions matter in FOXG1 duplications? 165
Epileptic myoclonus as ciprofloxacin-associated adverse effect. 164
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 164
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 164
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity 164
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 164
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 164
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. 163
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 163
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. 161
Sudden death in Unverricht-Lundborg patients: is serotonin the key? 161
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 160
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 160
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 158
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 158
De novo mutations in HCN1 cause early infantile epileptic encephalopathy 157
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 156
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 156
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 156
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 155
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 155
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 154
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 154
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 154
Willful modulation of brain activity in disorders of consciousness. 153
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 153
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 152
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 152
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 152
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 151
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 151
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 151
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. 150
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 150
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 150
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 149
Epileptic seizures can follow high doses of oral vardenafil. 148
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis 148
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons 148
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 147
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 147
Phenotypic characterization of hypomyelination and congenital cataract 146
TBC1D24 genotype-phenotype correlation 146
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 146
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 144
Epilepsy: a 'going ape' model for SUDEP? 144
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures 144
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 142
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY: GENETIC HETEROGENEITY AND ALLELISM WITH ADCME. 141
Familial benign nonprogressive myoclonic epilepsies. 141
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 141
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 140
Refractory, life-threatening status epilepticus in a 3-year-old girl. 140
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 139
Response to: 'Cortical tremor or cortical pseudotremor?'. 139
Hemidystonia in uncontrolled type 2 diabetes mellitus. 138
Inherited neuromyotonia: a clinical and genetic study of a family. 138
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 138
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 138
Chiari malformation type I: what information from the genetics? 138
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function. 137
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 137
Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes. 136
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 136
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. 136
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 136
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 136
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 135
Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. 135
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 135
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 135
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 134
Periodic myoclonus due to cytomegalovirus encephalitis in a patient with good syndrome. 133
Epilepsy: HLA alleles linked to carbamazepine hypersensitivity. 133
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. 133
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series 133
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 132
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 132
Totale 16.615
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Categoria #
all - tutte 147.488
article - articoli 143.662
book - libri 88
conference - conferenze 3.044
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 694
Totale 294.976
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20213.590 0 0 0 1.181 314 179 170 446 221 569 285 225
2021/20224.011 273 165 458 260 152 225 195 877 184 435 244 543
2022/20233.643 460 223 51 338 533 614 43 298 644 33 347 59
2023/20242.264 144 274 50 234 177 383 127 120 130 137 160 328
2024/20257.701 248 519 161 456 972 799 835 1.082 447 445 822 915
2025/20264.804 1.594 497 1.734 979 0 0 0 0 0 0 0 0
Totale 39.252