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ATP6V1A is required for synaptic rearrangements and plasticity in murine hippocampal neurons.
- Published in:
- Acta Physiologica, 2024, v. 240, n. 8, p. 1, doi. 10.1111/apha.14186
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- Article
Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children: a multicentre experience.
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- Child's Nervous System, 2024, v. 40, n. 8, p. 2457, doi. 10.1007/s00381-024-06380-1
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- Article
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study.
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- Epilepsia Open, 2024, v. 9, n. 4, p. 1382, doi. 10.1002/epi4.12965
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- Article
Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition.
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- FASEB Journal, 2024, v. 38, n. 13, p. 1, doi. 10.1096/fj.202400213RR
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- Article
Neurodegeneration in patients with multisystem Langerhans cell histiocytosis treated with vemurafenib.
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- British Journal of Haematology, 2024, v. 204, n. 6, p. 2508, doi. 10.1111/bjh.19483
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- Article
Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods.
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- Neurology & Therapy, 2024, v. 13, n. 3, p. 869, doi. 10.1007/s40120-024-00623-8
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- Article
Severe A(H1N1)pdm09 influenza acute encephalopathy outbreak in children in Tuscany, Italy, December 2023 to January 2024.
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- Eurosurveillance (15607917), 2024, v. 29, n. 17, p. 6, doi. 10.2807/1560-7917.ES.2024.29.17.2400199
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- Article
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.
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- Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
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- Article
Comparative efficacy and safety of stiripentol, cannabidiol and fenfluramine as first‐line add‐on therapies for seizures in Dravet syndrome: A network meta‐analysis.
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- Epilepsia Open, 2024, v. 9, n. 2, p. 689, doi. 10.1002/epi4.12923
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- Article
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 434, doi. 10.1002/mdc3.13986
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- Article
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
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- Epilepsia Open, 2024, v. 9, n. 1, p. 417, doi. 10.1002/epi4.12843
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- Article
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
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- Movement Disorders, 2023, v. 38, n. 12, p. 2313, doi. 10.1002/mds.29585
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- Article
Steps to Improve Precision Medicine in Epilepsy.
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- Molecular Diagnosis & Therapy, 2023, v. 27, n. 6, p. 661, doi. 10.1007/s40291-023-00676-9
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- Article
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo‐controlled clinical trial.
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- Epilepsia (Series 4), 2023, v. 64, n. 10, p. 2653, doi. 10.1111/epi.17737
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- Article
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3885, doi. 10.1093/brain/awad111
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- Article
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
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- Cerebral Cortex, 2023, v. 33, n. 17, p. 9709, doi. 10.1093/cercor/bhad235
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- Article
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
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- Cerebral Cortex, 2023, v. 33, n. 16, p. 9532, doi. 10.1093/cercor/bhad224
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- Article
Facial Nerve Tumors in Children: Two Clinical Cases and a Review of the Literature.
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- Journal of International Advanced Otology, 2023, v. 19, n. 4, p. 303, doi. 10.5152/iao.2023.22940
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- Article
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
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- Epilepsia (Series 4), 2023, v. 64, p. S14, doi. 10.1111/epi.17610
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- Article
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
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- Journal of Neurology, 2023, v. 270, n. 6, p. 3266, doi. 10.1007/s00415-023-11673-7
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- Article
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- 2023
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- Publication type:
- Correction Notice
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02628-2
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- Article
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study.
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- Epilepsia (Series 4), 2023, v. 64, n. 1, p. 139, doi. 10.1111/epi.17431
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- Article
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program.
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- Epilepsia Open, 2022, v. 7, n. 4, p. 578, doi. 10.1002/epi4.12624
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- Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders.
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- Movement Disorders, 2022, v. 37, n. 11, p. 2197, doi. 10.1002/mds.29182
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- Article
Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.
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- Movement Disorders Clinical Practice, 2022, v. 9, p. S41, doi. 10.1002/mdc3.13525
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- Publication type:
- Article
Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.
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- Movement Disorders Clinical Practice, 2022, v. 9, p. S41, doi. 10.1002/mdc3.13525
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- Publication type:
- Article
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
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- Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164
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- Article
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.
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- Drugs - Real World Outcomes, 2022, v. 9, n. 3, p. 451, doi. 10.1007/s40801-022-00305-7
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- Article
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C.
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- Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081962
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- Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
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- 2022
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- Publication type:
- journal article
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 6, p. 554, doi. 10.1001/jamaneurol.2022.0829
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- Article
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
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- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.869842
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- Article
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
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- Article
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
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- Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 527, doi. 10.3390/jpm12040527
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- Article
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
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- 2022
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- Publication type:
- journal article
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04180-x
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- Article
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
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- Article
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants.
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- Epilepsia (Series 4), 2022, v. 63, n. 1, p. e7, doi. 10.1111/epi.17118
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- Publication type:
- Article
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 1, p. 437, doi. 10.1007/s00415-021-10792-3
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- Publication type:
- Article
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach?
- Published in:
- Current Neurology & Neuroscience Reports, 2021, v. 21, n. 12, p. 1, doi. 10.1007/s11910-021-01154-7
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- Article
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26447-w
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- Article
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.
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- Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051
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- Article
The spectrum of brain malformations and disruptions in twins.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
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- Article
Consensus statements on the information to deliver after a febrile seizure.
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- European Journal of Pediatrics, 2021, v. 180, n. 9, p. 2993, doi. 10.1007/s00431-021-04067-2
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- Article
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2526, doi. 10.1002/ajmg.a.62345
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- Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
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- Article
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
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- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3222, doi. 10.3390/jcm10153222
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- Article
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
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- Genes, 2021, v. 12, n. 7, p. 962, doi. 10.3390/genes12070962
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- Article