IRIS
ORSINI, ALESSANDRO
 Distribuzione geografica
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Continente #
EU - Europa 1.045
Totale 1.045
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Nazione #
IT - Italia 1.045
Totale 1.045
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Città #
Genova 569
Rapallo 254
Genoa 218
Bordighera 4
Totale 1.045
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Nome #
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 116
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 74
Clinical features, disease evolution, ocular phenotype and electroretinogram abnormalities in Italian Lafora disease patients: a road to precision therapy 54
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 50
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus 43
Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7 42
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy 42
A pathway to precision therapy even for mitochondrial myoclonic epilepsy 41
Medical management for neurosurgical related seizures 39
The spectrum of intermediate SCN8A-related epilepsy 39
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study 39
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 38
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 37
Distal motor neuropathy associated with novel EMILIN1 mutation 36
Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients 33
Genomic sequencing in severe epilepsy: a step closer to precision medicine 32
Recent advances in epilepsy genetics 31
The brain–heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention 28
Rasmussen's encephalitis: From immune pathogenesis towards targeted-therapy 24
Post-traumatic stress, anxiety, and depressive symptoms in caregivers of children tested for COVID-19 in the acute phase of the Italian outbreak 24
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage 20
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 20
Trait impulsivity in Juvenile Myoclonic Epilepsy 19
PRES-like leukoencephalopathy presenting with status epilepticus associated with Brentuximab Vedotin treatment 19
PTSD in parents of children with severe diseases: a systematic review to face Covid-19 impact 18
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene 18
Should children over 12 years have an EEG after a single unprovoked epileptic seizure? 15
The role of inflammatory mediators in epilepsy: Focus on developmental and epileptic encephalopathies and therapeutic implications 15
Therapeutic aspects of Sydenham’s Chorea: an update 15
Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP) 14
Sex-specific disease modifiers in juvenile myoclonic epilepsy 13
Peripheral Arterial Tonometry (EndoPAT)-measured Endothelial Dysfunction in Migraine with Aura children 11
De novo GRIN2A variants associated with epilepsy and autism and literature review 10
Long-term dentoskeletal changes of class II growing patients' treatment with the propulseur universal light appliance. A prospective controlled study 10
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 7
Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications 7
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series 5
Heterogeneity of resting-state EEG features in juvenile myoclonic epilepsy and controls 3
Totale 1.101
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Categoria #
all - tutte 6.915
article - articoli 6.704
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.619
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201912 0 0 0 0 0 0 0 0 0 2 6 4
2019/202032 2 1 1 4 3 3 6 3 2 4 2 1
2020/2021268 1 1 22 80 3 2 16 39 16 57 13 18
2021/2022292 14 10 5 8 17 17 13 64 24 48 21 51
2022/2023309 40 13 8 13 52 48 1 30 63 4 35 2
2023/2024174 12 24 11 32 8 41 9 15 15 7 0 0
Totale 1.101