| Nome |
# |
|
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy, file e0feeaa5-eace-44d2-e053-6605fe0a8db0
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186
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|
Drug Retention Rate and Predictive Factors of Drug Survival for Interleukin-1 Inhibitors in Systemic Juvenile Idiopathic Arthritis, file e0feeaa7-cc40-44d2-e053-6605fe0a8db0
|
172
|
|
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study, file e0feeaa8-a0b3-44d2-e053-6605fe0a8db0
|
84
|
|
Association of celiac disease in patients with multiple sclerosis in Tuscany, file e0feeaa9-2f85-44d2-e053-6605fe0a8db0
|
76
|
|
Comparison of Early vs. Delayed Anakinra Treatment in Patients With Adult Onset Still's Disease and Effect on Clinical and Laboratory Outcomes, file e0feeaa9-1fea-44d2-e053-6605fe0a8db0
|
69
|
|
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases, file e0feeaa8-bf24-44d2-e053-6605fe0a8db0
|
64
|
|
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability., file e0feeaab-b7d2-44d2-e053-6605fe0a8db0
|
49
|
|
Thyroid function in small for gestational age newborns: A review, file e0feeaa5-e80d-44d2-e053-6605fe0a8db0
|
48
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|
Anakinra drug retention rate and predictive factors of long-term response in systemic juvenile idiopathic arthritis and adult onset still disease, file e0feeaa9-219f-44d2-e053-6605fe0a8db0
|
39
|
|
Neridronate for transient osteoporosis of the hip in a child, file 44859be8-73b1-4272-a2f8-f3f1691c6e92
|
20
|
|
Frequency and type of domestic injuries among children during COVID-19 lockdown: what changes from the past? An Italian multicentre cohort study, file cb8d0a6a-0256-490c-a37b-bbbff47303d8
|
20
|
|
null, file e0feeaa7-366a-44d2-e053-6605fe0a8db0
|
5
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|
Oxidative stress in epilepsy, file e0feeaa8-6b5f-44d2-e053-6605fe0a8db0
|
5
|
|
Recurrent torticollis caused by dissecting vertebral artery aneurysm in a pediatric patient results of endovascular treatment by use of coil embolization case report, file e0feeaa5-e7e9-44d2-e053-6605fe0a8db0
|
4
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|
Growth hormone secretion in Prader-Willi syndrome, file e0feeaa5-ea14-44d2-e053-6605fe0a8db0
|
4
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|
Efficacy and safety of levetiracetam: an add-on trial in children with refractory epilepsy, file e0feeaa5-f000-44d2-e053-6605fe0a8db0
|
4
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|
L-2 Hydroxyglutaric Aciduria Magnetization Transfer Contrast and Diffusion Weighted Magnetic Resonance Imaging Findings. A case Report, file e0feeaa5-f40a-44d2-e053-6605fe0a8db0
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4
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|
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype, file e0feeaa8-3580-44d2-e053-6605fe0a8db0
|
4
|
|
Intractable reflex audiogenic seizures in Aicardi syndrome, file e0feeaa5-e917-44d2-e053-6605fe0a8db0
|
3
|
|
2q24-q31 deletion: report of a case and review of the literature, file e0feeaa5-e918-44d2-e053-6605fe0a8db0
|
3
|
|
GM2 gangliosidosis variant B1 neuroradiological findings, file e0feeaa5-e9ae-44d2-e053-6605fe0a8db0
|
3
|
|
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome, file e0feeaa5-f002-44d2-e053-6605fe0a8db0
|
3
|
|
Isoprostanes in distrophynopathy: evidence of increased oxidative stress, file e0feeaa5-f3d6-44d2-e053-6605fe0a8db0
|
3
|
|
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum, file e0feeaa6-4add-44d2-e053-6605fe0a8db0
|
3
|
|
Massive lamotrigine poisoning. A case report, file e0feeaa9-f1f0-44d2-e053-6605fe0a8db0
|
3
|
|
Correction to: Frequency and type of domestic injuries among children during COVID-19 lockdown: what changes from the past? An Italian multicentre cohort study, file 868060f6-108b-4c07-bb3f-7af454b54b3b
|
2
|
|
Efficacy and tolerability of add-on Lacosamide in children with Lennox-Gastaut syndrome, file e0feeaa5-e57e-44d2-e053-6605fe0a8db0
|
2
|
|
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria, file e0feeaa5-e815-44d2-e053-6605fe0a8db0
|
2
|
|
Reflex myoclonic epilepsy in infancy: a multicenter clinical study, file e0feeaa5-e83f-44d2-e053-6605fe0a8db0
|
2
|
|
Folate receptor alpha defect causes cerebral folate transport deficiency a treatable neurodegenerative disorder associated with disturbed myelin metabolism, file e0feeaa5-e84d-44d2-e053-6605fe0a8db0
|
2
|
|
Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy, file e0feeaa5-e84f-44d2-e053-6605fe0a8db0
|
2
|
|
Multiple neuroendocrine disorder in Salla disease, file e0feeaa5-e89e-44d2-e053-6605fe0a8db0
|
2
|
|
Craniofacial dyssynostosis: case report and review, file e0feeaa5-e9b1-44d2-e053-6605fe0a8db0
|
2
|
|
Efficacy and safety of rufinamide in children under four years of age with drug-resistant epilepsies, file e0feeaa5-ea09-44d2-e053-6605fe0a8db0
|
2
|
|
Private inherited microdeletion/microduplications: implications in clinical practice, file e0feeaa5-ea61-44d2-e053-6605fe0a8db0
|
2
|
|
Panayiotopoulos syndrome with convulsive status epilepticus at the onset: A long-term study, file e0feeaa5-eaf7-44d2-e053-6605fe0a8db0
|
2
|
|
Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects, file e0feeaa5-eaf8-44d2-e053-6605fe0a8db0
|
2
|
|
Efficacy and tolerability of add-on lacosamide in children with Lennox-Gastaut syndrome, file e0feeaa5-ec51-44d2-e053-6605fe0a8db0
|
2
|
|
Lacosamide in pediatric and adult patients: comparison of efficacy and safety, file e0feeaa5-eec7-44d2-e053-6605fe0a8db0
|
2
|
|
Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy, file e0feeaa5-ef08-44d2-e053-6605fe0a8db0
|
2
|
|
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism, file e0feeaa5-ef21-44d2-e053-6605fe0a8db0
|
2
|
|
Levetiracetam monotherapy for childhood occipital epilepsy of gastaut, file e0feeaa5-ef48-44d2-e053-6605fe0a8db0
|
2
|
|
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up, file e0feeaa5-ef54-44d2-e053-6605fe0a8db0
|
2
|
|
Epilepsy and vaccinations: Italian guidelines, file e0feeaa5-ef75-44d2-e053-6605fe0a8db0
|
2
|
|
Lamotrigine in typical absence epilepsy, file e0feeaa5-ef78-44d2-e053-6605fe0a8db0
|
2
|
|
Topiramate-induced weight loss: a review, file e0feeaa5-efee-44d2-e053-6605fe0a8db0
|
2
|
|
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria, file e0feeaa5-f01c-44d2-e053-6605fe0a8db0
|
2
|
|
Long-term outcome of epilepsy in Kabuki syndrome, file e0feeaa5-f0cf-44d2-e053-6605fe0a8db0
|
2
|
|
Linear scleroderma associated with progressive brain atrophy, file e0feeaa5-f0fc-44d2-e053-6605fe0a8db0
|
2
|
|
Bathing epilepsy: report of two Caucasian cases, file e0feeaa5-f14e-44d2-e053-6605fe0a8db0
|
2
|
|
Diagnosis of Angelman syndrome: clinical and EEG criteria, file e0feeaa5-f1b2-44d2-e053-6605fe0a8db0
|
2
|
|
Simultaneous onset of infantile spasms in monozygotic twins, file e0feeaa5-f393-44d2-e053-6605fe0a8db0
|
2
|
|
Aicardi syndrome with favorable outcome: case report and review, file e0feeaa5-f3d2-44d2-e053-6605fe0a8db0
|
2
|
|
Levetiracetam monotherapy for children and adolescents with benign rolandic seizures, file e0feeaa5-f3d4-44d2-e053-6605fe0a8db0
|
2
|
|
Rufinamide in children and adults with Lennox–Gastaut syndrome: First Italian multicenter experience, file e0feeaa5-f40d-44d2-e053-6605fe0a8db0
|
2
|
|
null, file e0feeaa7-3d44-44d2-e053-6605fe0a8db0
|
2
|
|
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype, file e0feeaa8-9464-44d2-e053-6605fe0a8db0
|
2
|
|
null, file e0feeaa8-b1e9-44d2-e053-6605fe0a8db0
|
2
|
|
Topiramate effects on plasma serotonin levels in children with epilepsy, file e0feeaa4-bced-44d2-e053-6605fe0a8db0
|
1
|
|
Chitotriosidase and soluble IL-2 receptor: comparison of two markers of sarcoidosis severity, file e0feeaa4-c811-44d2-e053-6605fe0a8db0
|
1
|
|
Chitotriosidase and soluble IL-2 receptor: comparison of two markers of sarcoidosis severity, file e0feeaa4-c840-44d2-e053-6605fe0a8db0
|
1
|
|
Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis., file e0feeaa4-dc78-44d2-e053-6605fe0a8db0
|
1
|
|
Efficacy and safety of topiramate in infants according to epilepsy syndromes, file e0feeaa4-e428-44d2-e053-6605fe0a8db0
|
1
|
|
Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review, file e0feeaa4-e449-44d2-e053-6605fe0a8db0
|
1
|
|
Management of status dystonicus in children. Cases reportand review, file e0feeaa4-eb69-44d2-e053-6605fe0a8db0
|
1
|
|
Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study, file e0feeaa4-f300-44d2-e053-6605fe0a8db0
|
1
|
|
Lacosamide in children with refractory status epilepticus. A multicenter Italian experience, file e0feeaa5-669a-44d2-e053-6605fe0a8db0
|
1
|
|
Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy, file e0feeaa5-6a99-44d2-e053-6605fe0a8db0
|
1
|
|
Lacosamide efficacy in epileptic syndromes with continuous spike and waves during slow sleep (CSWS), file e0feeaa5-715c-44d2-e053-6605fe0a8db0
|
1
|
|
Oxidative stress in children affected by epileptic encephalopathies, file e0feeaa5-8995-44d2-e053-6605fe0a8db0
|
1
|
|
Refractory absence seizures: An Italian multicenter retrospective study, file e0feeaa5-e514-44d2-e053-6605fe0a8db0
|
1
|
|
Long-term outcome of epilepsy in patients with Prader-Willi syndrome, file e0feeaa5-e517-44d2-e053-6605fe0a8db0
|
1
|
|
Epilepsy in Menkes disease An electroclinical long-term study of 28 patients, file e0feeaa5-e577-44d2-e053-6605fe0a8db0
|
1
|
|
Transient neonatal hypothyroidism after gestational exposure to amiodarone: a follow-up of two cases, file e0feeaa5-e7e0-44d2-e053-6605fe0a8db0
|
1
|
|
Precocious puberty with trisomy X syndrome, file e0feeaa5-e7f5-44d2-e053-6605fe0a8db0
|
1
|
|
Selective mutism, speech delay, dysmorphisms, and deletion of the short arm of chromosome 18: a distinct entity?, file e0feeaa5-e7f6-44d2-e053-6605fe0a8db0
|
1
|
|
Withdrawal of antiepileptic drugs: guidelines of the Italian League Against Epilepsy, file e0feeaa5-e80b-44d2-e053-6605fe0a8db0
|
1
|
|
Epilepsy in patients with Cornelia de Lange syndrome: A clinical series, file e0feeaa5-e80f-44d2-e053-6605fe0a8db0
|
1
|
|
Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome, file e0feeaa5-e826-44d2-e053-6605fe0a8db0
|
1
|
|
Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss a provisionally unique genetic syndrome, file e0feeaa5-e90a-44d2-e053-6605fe0a8db0
|
1
|
|
Anticonvulsant drugs and hematological disease, file e0feeaa5-e931-44d2-e053-6605fe0a8db0
|
1
|
|
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation, file e0feeaa5-e9be-44d2-e053-6605fe0a8db0
|
1
|
|
Benign convulsions associated with mild gastroenteritis: a multicenter clinical study, file e0feeaa5-ea92-44d2-e053-6605fe0a8db0
|
1
|
|
Valproate in adolescents with photosensitive epilepsy with generalized tonic-clonic seizures only, file e0feeaa5-eab4-44d2-e053-6605fe0a8db0
|
1
|
|
Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa, file e0feeaa5-eac5-44d2-e053-6605fe0a8db0
|
1
|
|
Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy, file e0feeaa5-eaf5-44d2-e053-6605fe0a8db0
|
1
|
|
Pubertal disorders in inv dup(15) syndrome, file e0feeaa5-ee22-44d2-e053-6605fe0a8db0
|
1
|
|
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization, file e0feeaa5-eed7-44d2-e053-6605fe0a8db0
|
1
|
|
Hot water epilepsy and focal malformation of the parietal cortex development, file e0feeaa5-ef22-44d2-e053-6605fe0a8db0
|
1
|
|
Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children, file e0feeaa5-ef4b-44d2-e053-6605fe0a8db0
|
1
|
|
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy, file e0feeaa5-f004-44d2-e053-6605fe0a8db0
|
1
|
|
Central precocious puberty and abnormal chromosomal patterns, file e0feeaa5-f010-44d2-e053-6605fe0a8db0
|
1
|
|
Endocrine disorders in two sisters affected by MELAS syndrome, file e0feeaa5-f05a-44d2-e053-6605fe0a8db0
|
1
|
|
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations, file e0feeaa5-f083-44d2-e053-6605fe0a8db0
|
1
|
|
Long term outcome in children affected by absence epilepsy with onset before the age of three years, file e0feeaa5-f211-44d2-e053-6605fe0a8db0
|
1
|
|
Long-term follow-up in children with benign convulsions associated with gastroenteritis, file e0feeaa5-f308-44d2-e053-6605fe0a8db0
|
1
|
|
De novo complete trisomy 5p clinical and neuroradiological findings, file e0feeaa5-f322-44d2-e053-6605fe0a8db0
|
1
|
|
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features, file e0feeaa5-f387-44d2-e053-6605fe0a8db0
|
1
|
|
Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study, file e0feeaa5-f38b-44d2-e053-6605fe0a8db0
|
1
|
|
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1, file e0feeaa5-f43f-44d2-e053-6605fe0a8db0
|
1
|
| Totale |
986 |