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Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 2115, doi. 10.1007/s00467-024-06289-6
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- Article
Evaluating the central vein sign in paediatric-onset multiple sclerosis: A case series study.
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- Multiple Sclerosis Journal, 2023, v. 29, n. 3, p. 475, doi. 10.1177/13524585221142319
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- Article
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
- Published in:
- 2022
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- Publication type:
- journal article
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
- Published in:
- 2019
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- Publication type:
- journal article
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 433, doi. 10.1159/000529408
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- Article
Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals.
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- Genes, 2022, v. 13, n. 2, p. 356, doi. 10.3390/genes13020356
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- Publication type:
- Article
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00860-1
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- Article
Acute pediatric encephalitis: etiology, course, and outcome of a 12-year single-center immunocompetent cohort.
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- Journal of Neurology, 2023, v. 270, n. 10, p. 5034, doi. 10.1007/s00415-023-11847-3
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- Article
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
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- Journal of Neurology, 2023, v. 270, n. 8, p. 3934, doi. 10.1007/s00415-023-11724-z
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- Article
Sleep disturbances in craniopharyngioma: a challenging diagnosis.
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- Journal of Neurology, 2021, v. 268, n. 11, p. 4362, doi. 10.1007/s00415-021-10794-1
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- Article
Correction to: Sleep disturbances in craniopharyngioma: a challenging diagnosis.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Cell-based assays for the detection of MOG antibodies: a comparative study.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 12, p. 3555, doi. 10.1007/s00415-020-10024-0
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- Publication type:
- Article
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.
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- Journal of Neurology, 2019, v. 266, n. 5, p. 1167, doi. 10.1007/s00415-019-09247-7
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- Publication type:
- Article
Epilepsia partialis continua in type 1 diabetes: evolution into epileptic encephalopathy with continuous spike-waves during slow sleep.
- Published in:
- Neurological Sciences, 2009, v. 30, n. 6, p. 509, doi. 10.1007/s10072-009-0122-y
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- Publication type:
- Article
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
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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
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 43, doi. 10.1186/1750-1172-7-43
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- Publication type:
- Article
Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations.
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- Epilepsia (Series 4), 2007, v. 48, n. 6, p. 1092, doi. 10.1111/j.1528-1167.2007.01020.x
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- Publication type:
- Article
Severe Epilepsy in X-Linked Creatine Transporter Defect (CRTR-D).
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- Epilepsia (Series 4), 2007, v. 48, n. 6, p. 1211, doi. 10.1111/j.1528-1167.2007.01148.x
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- Publication type:
- Article
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations.
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- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1629, doi. 10.1111/j.1528-1167.2006.00641.x
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- Publication type:
- Article
Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis.
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- Neurosurgical Review, 2024, v. 47, n. 1, p. 1, doi. 10.1007/s10143-024-02491-0
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- Publication type:
- Article
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1299, doi. 10.1002/humu.24414
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- Publication type:
- Article
A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63611
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- Publication type:
- Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
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- Publication type:
- Article
Ketamine as advanced second‐line treatment in benzodiazepine‐refractory convulsive status epilepticus in children.
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- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 797, doi. 10.1111/epi.17550
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- Article
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
- Published in:
- 2017
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- Publication type:
- journal article
Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease.
- Published in:
- 2015
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- Publication type:
- journal article
Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.796828
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- Publication type:
- Article
Magnetic Resonance-Guided Laser Interstitial Thermal Therapy (MR-gLiTT) in Pediatric Epilepsy Surgery: State of the Art and Presentation of Giannina Gaslini Children's Hospital (Genoa, Italy) Series.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.739034
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- Publication type:
- Article
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.735488
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- Publication type:
- Article
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 11, p. 1479, doi. 10.1177/0883073813508223
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- Publication type:
- Article
Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 9, p. NP54, doi. 10.1177/0883073813499969
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- Publication type:
- Article
Focal Leptomeningeal Enhancement and Corticopial Calcifications Underlying a Parietal Convexity Lipoma: A Rare Association of Findings in 2 Pediatric Epileptic Patients.
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- Journal of Child Neurology, 2011, v. 26, n. 5, p. 634, doi. 10.1177/0883073810387665
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- Publication type:
- Article