IRIS
ZARA, FEDERICO
 Distribuzione geografica
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Continente #
EU - Europa 27.102
Totale 27.102
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Nazione #
IT - Italia 27.102
Totale 27.102
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Città #
Genova 20.285
Genoa 2.949
Rapallo 2.940
Vado Ligure 862
Bordighera 66
Totale 27.102
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Nome #
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. 414
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. 187
Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. 173
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. 173
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures. 165
A novel SCN2A mutation in family with benign familial infantile seizures. 164
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. 162
22-year-old girl with status epilepticus and progressive neurological symptoms. 160
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). 159
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity. 152
Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy. 151
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 150
Clinical and genetic findings in 26 Italian patients with Lafora disease. 149
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. 149
Epileptic myoclonus as ciprofloxacin-associated adverse effect. 148
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 148
Sudden death in Unverricht-Lundborg patients: is serotonin the key? 146
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. 146
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. 144
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 143
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. 143
De novo mutations in HCN1 cause early infantile epileptic encephalopathy 142
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 140
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 139
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 139
Do regulatory regions matter in FOXG1 duplications? 139
Dramatic response to levetiracetam in post-ischaemic Holmes' tremor. 138
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 137
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 137
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 137
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations 137
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 136
Willful modulation of brain activity in disorders of consciousness. 136
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 136
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability 136
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 135
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 135
Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy 133
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy 133
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? 133
Epileptic seizures can follow high doses of oral vardenafil. 132
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 132
Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study. 131
Phenotypic characterization of hypomyelination and congenital cataract 130
Epilepsy: a 'going ape' model for SUDEP? 130
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 130
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 130
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. 129
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 129
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 128
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 128
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy 128
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 128
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 127
A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus. 127
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 127
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. 127
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 127
Clinical and molecular consequences of exon 78 deletion in DMD gene 127
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY: GENETIC HETEROGENEITY AND ALLELISM WITH ADCME. 126
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery 126
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 125
TBC1D24 genotype-phenotype correlation 125
Inherited neuromyotonia: a clinical and genetic study of a family. 124
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 124
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 122
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 122
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 122
Familial benign nonprogressive myoclonic epilepsies. 121
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 121
Response to: 'Cortical tremor or cortical pseudotremor?'. 121
Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. 121
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 121
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 120
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. 120
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity 120
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 119
Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes. 118
Periodic myoclonus due to cytomegalovirus encephalitis in a patient with good syndrome. 117
Transient epileptic amnesia: a new epileptic syndrome in development? 117
Lesional reflex epilepsy associated with the thought of food. AUTHOR REPLY 116
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 116
Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine. 115
Epilepsy: HLA alleles linked to carbamazepine hypersensitivity. 115
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series 115
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 115
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures 115
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 114
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly 114
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 114
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 114
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. 114
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 114
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. 113
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 113
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. 112
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function. 112
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. 111
Refractory, life-threatening status epilepticus in a 3-year-old girl. 111
Glutamic acid decarboxylase antibodies in idiopathic generalized epilepsy and type 1 diabetes. 110
Totale 13.396
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Categoria #
all - tutte 101.698
article - articoli 99.609
book - libri 31
conference - conferenze 1.599
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 459
Totale 203.396
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205.775 0 0 0 445 625 696 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
2024/20251.013 248 519 161 85 0 0 0 0 0 0 0 0
Totale 27.760