Nome |
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation., file de3e52b2-e474-762d-e053-3705fe0a30e0
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55
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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment, file de3e52b1-4cf7-762d-e053-3705fe0a30e0
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42
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment, file de3e52b1-f419-762d-e053-3705fe0a30e0
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24
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Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients, file de3e52b2-c783-762d-e053-3705fe0a30e0
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22
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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report, file de3e52b1-c338-762d-e053-3705fe0a30e0
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21
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First Attack and Clinical Presentation of Hemiplegic Migraine in Pediatric Age: A Multicenter Retrospective Study and Literature Review, file de3e52b2-88c8-762d-e053-3705fe0a30e0
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21
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Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns, file de3e52af-1210-762d-e053-3705fe0a30e0
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20
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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases, file 0a80fe5c-0760-4a6c-8332-9c51228890ed
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13
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Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome, file de3e52b2-fb56-762d-e053-3705fe0a30e0
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12
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A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity., file de3e52af-9f7b-762d-e053-3705fe0a30e0
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11
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Inflammatory biomarkers and intellectual disability in patients with Down syndrome, file de3e52b1-4a93-762d-e053-3705fe0a30e0
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10
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Neonatal Seizures: An Overview of Genetic Causes and Treatment Options, file de3e52b5-6959-762d-e053-3705fe0a30e0
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10
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Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities, file de3e52b0-3801-762d-e053-3705fe0a30e0
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7
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Head-to-Head Comparison of Aripiprazole and Risperidone in the Treatment of ADHD Symptoms in Children with Autistic Spectrum Disorder and ADHD: A Pilot,
Open-Label, Randomized Controlled Study, file de3e52b0-8a2d-762d-e053-3705fe0a30e0
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7
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Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study, file de3e52b1-bd42-762d-e053-3705fe0a30e0
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7
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Predictive role of early milestones-related psychomotor profiles and long-term neurodevelopmental pitfalls in preterm infants, file de3e52b0-0a27-762d-e053-3705fe0a30e0
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6
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Validation of a novel classification model of psychogenic nonepileptic seizures by video-EEG analysis and a machine learning approach, file de3e52b0-0e50-762d-e053-3705fe0a30e0
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6
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Primary nocturnal enuresis in children with allergic rhinitis and severe adenotonsillar hypertrophy: a single center pilot study, file de3e52b3-511f-762d-e053-3705fe0a30e0
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6
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The semiology of psychogenic nonepileptic seizures revisited: Can video alone predict the diagnosis? Preliminary data from a prospective feasibility study., file de3e52b0-1652-762d-e053-3705fe0a30e0
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5
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Conversation analysis in the differentiation of psychogenic nonepileptic and epileptic seizures in pediatric and adolescent settings, file de3e52b0-37ff-762d-e053-3705fe0a30e0
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5
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants, file de3e52b4-4aee-762d-e053-3705fe0a30e0
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5
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Inflammatory biomarkers and intellectual disability in patients with Down syndrome, file de3e52b4-6105-762d-e053-3705fe0a30e0
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5
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects, file de3e52b4-8a2d-762d-e053-3705fe0a30e0
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5
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Potential benefits of melatonin to control pain in ventilated preterm newborns: An updated review, file de3e52b5-05c4-762d-e053-3705fe0a30e0
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5
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Cognitive Empowerment with New Technologies Improves Neuropsychological and Neurophysiological Parameters in Rett Syndrome, file de3e52b1-2a9b-762d-e053-3705fe0a30e0
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4
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A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study, file de3e52b1-c93b-762d-e053-3705fe0a30e0
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4
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A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study, file de3e52b1-cf6f-762d-e053-3705fe0a30e0
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4
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Oxidative Stress and Respiratory Diseases in Preterm Newborns, file de3e52b5-6957-762d-e053-3705fe0a30e0
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4
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Type I hyperprolinemia: genotype/phenotype correlations., file de3e52ae-dcc1-762d-e053-3705fe0a30e0
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3
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Role of plasma homocysteine levels and MTHFR polymorphisms on IQ scores in children and young adults with epilepsy treated with antiepileptic drugs., file de3e52ae-f7bc-762d-e053-3705fe0a30e0
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3
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Management of Pediatric Pseudotumor Cerebri Syndrome, file de3e52af-9f71-762d-e053-3705fe0a30e0
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3
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Efficacy of Intravenous Hydrocortisone Treatment in Refractory Neonatal Seizures: A Report on Three Cases, file de3e52b4-ff15-762d-e053-3705fe0a30e0
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3
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease, file c8a2e712-91ba-471f-aa71-d43c17e1697f
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2
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PCDH19 mutations in female patients from Southern Italy., file de3e52ae-a028-762d-e053-3705fe0a30e0
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2
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Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation., file de3e52ae-a42b-762d-e053-3705fe0a30e0
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2
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null, file de3e52ae-e8a7-762d-e053-3705fe0a30e0
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2
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Idiopathic Bilateral Relapsing-Remitting Painful Ophthalmoplegia co-occurring with Hashimoto thyroiditis and hyperhomocysteinemia, file de3e52ae-f110-762d-e053-3705fe0a30e0
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2
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Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review, file de3e52b2-3abf-762d-e053-3705fe0a30e0
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2
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Head-to-Head Comparison of Aripiprazole and Risperidone in the Treatment of ADHD Symptoms in Children with Autistic Spectrum Disorder and ADHD: A Pilot,
Open-Label, Randomized Controlled Study, file de3e52b4-a8c3-762d-e053-3705fe0a30e0
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2
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Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home, file de3e52b4-bd09-762d-e053-3705fe0a30e0
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2
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Neurotrophins: Expression of Brain-Lung Axis Development, file 130bdd20-6f3e-4d8a-aa1c-c9a3893a7024
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1
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Early Psychomotor Advantage in Moderately Preterm Twins Born between 32 and 33 Weeks, file 679a7c63-ea33-4bb0-8e07-750e12c5c78b
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1
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null, file 6eb267e1-5f73-4f7d-84aa-0497284773f1
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1
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Oxidative Stress in Obesity: A Critical Component in Human Diseases., file de3e52ae-9fcf-762d-e053-3705fe0a30e0
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1
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A Novel CDKL5 Mutation in a 47,XXY Boy With the Early-Onset Seizure Variant of Rett Syndrome, file de3e52ae-b514-762d-e053-3705fe0a30e0
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1
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Recurrent rearrangements in synaptic and neurodevelopmental genes and sharedbiologic pathways in schizophrenia, autism, and mental retardation., file de3e52ae-bf59-762d-e053-3705fe0a30e0
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1
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Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiologywith onset in the first year of life., file de3e52ae-e89b-762d-e053-3705fe0a30e0
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1
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null, file de3e52ae-ee00-762d-e053-3705fe0a30e0
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1
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null, file de3e52ae-ee35-762d-e053-3705fe0a30e0
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1
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Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and
Clinical Implications., file de3e52af-25b7-762d-e053-3705fe0a30e0
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1
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In response: Towards a quantitative assessment of psychogenic nonepileptic seizures, file de3e52b0-0e53-762d-e053-3705fe0a30e0
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1
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Neuroimaging Changes in Menkes Disease, Part 1., file de3e52b1-420c-762d-e053-3705fe0a30e0
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1
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A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study, file de3e52b3-3c87-762d-e053-3705fe0a30e0
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1
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants, file de3e52b4-7a3d-762d-e053-3705fe0a30e0
|
1
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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases, file de3e52b4-7a43-762d-e053-3705fe0a30e0
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1
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A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective, file de3e52b4-cc71-762d-e053-3705fe0a30e0
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1
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Cerebellum and Prematurity: A Complex Interplay Between Disruptive and Dysmaturational Events., file de3e52b4-ddeb-762d-e053-3705fe0a30e0
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1
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Totale |
391 |