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Eating disorder risks and psychopathological distress in Italian high school adolescents.
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- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01717-7
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- Article
Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet.
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- Minerva Pediatrics, 2024, v. 76, n. 2, p. 189, doi. 10.23736/S2724-5276.21.05923-1
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- Article
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2022.1072256
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- Article
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature.
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- Epilepsia Open, 2024, v. 9, n. 1, p. 106, doi. 10.1002/epi4.12837
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- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
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- Article
A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
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- Epilepsia (Series 4), 2023, v. 64, n. 12, p. e222, doi. 10.1111/epi.17777
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- Article
A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
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- Epilepsia Open, 2023, v. 8, n. 3, p. 1142, doi. 10.1002/epi4.12717
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- Article
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
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- Neurological Sciences, 2023, v. 44, n. 9, p. 3037, doi. 10.1007/s10072-023-06790-0
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- Article
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.
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- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1215618
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- Article
Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1181015
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- Article
Early Onset Paroxysmal Dyskinesia in PRRT2‐Related Disorders.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 701, doi. 10.1002/mdc3.13674
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- Article
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02628-2
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- Article
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1077625
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- Publication type:
- Article
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13560, doi. 10.3390/ijms232113560
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- Article
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.
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- 2022
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- Publication type:
- journal article
Maternal and infant NR3C1 and SLC6A4 epigenetic signatures of the COVID-19 pandemic lockdown: when timing matters.
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- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02160-0
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- Article
Seizures may be an early sign of acute COVID‐19, and the Omicron variant could present a more epileptogenic profile.
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- Acta Paediatrica, 2022, v. 111, n. 9, p. 1814, doi. 10.1111/apa.16424
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- Article
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
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- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03454-1
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- Publication type:
- Article
Cognitive, Behavioral and Socioemotional Development in a Cohort of Preterm Infants at School Age: A Cross-Sectional Study.
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- Pediatric Reports, 2022, v. 14, n. 1, p. 115, doi. 10.3390/pediatric14010017
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- Article
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
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- Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 948, doi. 10.3390/diagnostics11060948
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- Article
PRKRA‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
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- Movement Disorders, 2021, v. 36, n. 4, p. 1038, doi. 10.1002/mds.28492
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- Article
Palmitoylethanolamide and Its Biobehavioral Correlates in Autism Spectrum Disorder: A Systematic Review of Human and Animal Evidence.
- Published in:
- Nutrients, 2021, v. 13, n. 4, p. 1346, doi. 10.3390/nu13041346
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- Article
In vivo gradients of thalamic damage in paediatric multiple sclerosis: a window into pathology.
- Published in:
- 2021
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- Publication type:
- journal article
Corticosteroids versus clobazam in epileptic encephalopathy with ESES: a European multicentre randomised controlled clinical trial (RESCUE ESES*).
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- 2020
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- Publication type:
- journal article
Childhood Epilepsy with Centrotemporal Spikes: Clinical and Neuropsychological Outcomes 5 Years after Remission.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 11, p. 931, doi. 10.3390/diagnostics10110931
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- Publication type:
- Article
3D facial morphometry in Italian patients affected by Aicardi syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2325, doi. 10.1002/ajmg.a.61791
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- Publication type:
- Article
Families' Perception of Classic Ketogenic Diet Management in Acute Medical Conditions: A Web-Based Survey.
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- Nutrients, 2020, v. 12, n. 10, p. 2920, doi. 10.3390/nu12102920
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- Article
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.
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- 2020
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- Publication type:
- journal article
The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.
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- Human Brain Mapping, 2020, v. 41, n. 2, p. 453, doi. 10.1002/hbm.24815
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- Publication type:
- Article
Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes.
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- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01316
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- Article
Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.
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- 2019
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- Publication type:
- letter
Long-Term Effects of a Classic Ketogenic Diet on Ghrelin and Leptin Concentration: A 12-Month Prospective Study in a Cohort of Italian Children and Adults with GLUT1-Deficiency Syndrome and Drug Resistant Epilepsy.
- Published in:
- Nutrients, 2019, v. 11, n. 8, p. 1716, doi. 10.3390/nu11081716
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- Publication type:
- Article
Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases.
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- Nutrients, 2019, v. 11, n. 7, p. 1442, doi. 10.3390/nu11071442
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- Article
Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective.
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- Nutrients, 2019, v. 11, n. 7, p. 1650, doi. 10.3390/nu11071650
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- Article
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.657
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- Article
Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases.
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- Nutrients, 2019, v. 11, n. 5, p. 1, doi. 10.3390/nu11051104
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- Publication type:
- Article
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.
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- Brain & Behavior, 2019, v. 9, n. 3, p. N.PAG, doi. 10.1002/brb3.1224
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- Article
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
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- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184022
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- Article
The face of Glut1-DS patients.
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- Clinical Anatomy, 2017, v. 30, n. 5, p. 644, doi. 10.1002/ca.22890
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- Article
The changing face of dietary therapy for epilepsy.
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- 2016
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- Publication type:
- journal article
Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation.
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- Epilepsia (Series 4), 2016, v. 57, n. 6, p. 896, doi. 10.1111/epi.13385
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- Publication type:
- Article
Regional hippocampal involvement and cognitive impairment in pediatric multiple sclerosis.
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- Multiple Sclerosis Journal, 2016, v. 22, n. 5, p. 628, doi. 10.1177/1352458515598569
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- Publication type:
- Article
Abnormal cerebellar functional MRI connectivity in patients with paediatric multiple sclerosis.
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- Multiple Sclerosis Journal, 2016, v. 22, n. 3, p. 292, doi. 10.1177/1352458515592191
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- Publication type:
- Article
Treatment of electrical status epilepticus in sleep: A pooled analysis of 575 cases.
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- Epilepsia (Series 4), 2015, v. 56, n. 11, p. 1738, doi. 10.1111/epi.13128
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- Article
Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy.
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- Functional Neurology, 2015, v. 30, n. 3, p. 173
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- Publication type:
- Article
Cognitive impairment in paediatric multiple sclerosis patients is not related to cortical lesions.
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- Multiple Sclerosis Journal, 2015, v. 21, n. 7, p. 956, doi. 10.1177/1352458514557303
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- Publication type:
- Article
Post-Operative Benefits of Animal-Assisted Therapy in Pediatric Surgery: A Randomised Study.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0125813
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- Article
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
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- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 692, doi. 10.1111/epi.12977
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- Publication type:
- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Article
Transition for patients with epilepsy due to metabolic and mitochondrial disorders.
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- Epilepsia (Series 4), 2014, v. 55, p. 37, doi. 10.1111/epi.12709
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- Publication type:
- Article