IRIS
ZARA, FEDERICO
 Distribuzione geografica
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Continente #
EU - Europa 28.412
Totale 28.412
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Nazione #
IT - Italia 28.412
Totale 28.412
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Città #
Genova 20.285
Genoa 2.949
Rapallo 2.940
Vado Ligure 2.172
Bordighera 66
Totale 28.412
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Nome #
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. 419
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. 189
Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. 175
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 175
A novel SCN2A mutation in family with benign familial infantile seizures. 169
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures. 167
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. 164
22-year-old girl with status epilepticus and progressive neurological symptoms. 162
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). 161
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 157
Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy. 157
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity. 155
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 152
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. 152
Clinical and genetic findings in 26 Italian patients with Lafora disease. 151
Sudden death in Unverricht-Lundborg patients: is serotonin the key? 151
Epileptic myoclonus as ciprofloxacin-associated adverse effect. 150
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 148
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. 146
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 146
De novo mutations in HCN1 cause early infantile epileptic encephalopathy 146
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 145
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 142
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 142
Do regulatory regions matter in FOXG1 duplications? 142
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 142
Willful modulation of brain activity in disorders of consciousness. 141
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 141
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 140
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 139
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 139
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 139
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations 139
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 138
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 138
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 138
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 137
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 137
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 136
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 135
Epileptic seizures can follow high doses of oral vardenafil. 135
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 135
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 134
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 133
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. 133
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 133
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 133
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 133
Phenotypic characterization of hypomyelination and congenital cataract 132
Epilepsy: a 'going ape' model for SUDEP? 132
Clinical and molecular consequences of exon 78 deletion in DMD gene 132
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 132
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 132
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 131
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 131
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 131
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 131
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 130
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 130
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 130
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 129
Inherited neuromyotonia: a clinical and genetic study of a family. 129
TBC1D24 genotype-phenotype correlation 129
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery 129
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity 128
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY: GENETIC HETEROGENEITY AND ALLELISM WITH ADCME. 127
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 126
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 126
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 126
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 126
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 125
Familial benign nonprogressive myoclonic epilepsies. 124
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 124
Response to: 'Cortical tremor or cortical pseudotremor?'. 124
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 124
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 124
Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. 123
Periodic myoclonus due to cytomegalovirus encephalitis in a patient with good syndrome. 122
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. 121
Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes. 120
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures 120
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 119
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 118
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series 118
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 118
Transient epileptic amnesia: a new epileptic syndrome in development? 118
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 117
Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine. 117
Epilepsy: HLA alleles linked to carbamazepine hypersensitivity. 117
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function. 117
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 117
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly 116
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 116
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. 116
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. 115
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 115
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. 114
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 113
Refractory, life-threatening status epilepticus in a 3-year-old girl. 113
Type 1 diabetes and epilepsy: more than a casual association? 112
Totale 13.717
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Categoria #
all - tutte 107.532
article - articoli 105.138
book - libri 41
conference - conferenze 1.871
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 482
Totale 215.064
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205.330 0 0 0 0 625 696 1.137 558 653 901 570 190
2020/20214.131 143 142 256 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
2024/20252.328 248 519 161 456 944 0 0 0 0 0 0 0
Totale 29.075