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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
- Published in:
- Human Genetics, 2015, v. 134, n. 1, p. 123, doi. 10.1007/s00439-014-1508-3
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- Publication type:
- Article
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00490-6
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- Publication type:
- Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06602
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- Publication type:
- Article
Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.
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- Neuroradiology, 2023, v. 65, n. 4, p. 865, doi. 10.1007/s00234-022-03106-5
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- Publication type:
- Article
Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 12, p. 2280, doi. 10.1002/acn3.51484
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- Publication type:
- Article
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 956, doi. 10.1002/acn3.51345
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- Publication type:
- Article
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 584, doi. 10.1002/acn3.51018
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- Article
Epilepsy in Tubulinopathy: Personal Series and Literature Review.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 7, p. 669, doi. 10.3390/cells8070669
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- Article
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 18, doi. 10.3390/brainsci12010018
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- Article
Cognitive predictors of Social processing in congenital atypical development.
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- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 9, p. 3343, doi. 10.1007/s10803-022-05630-y
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- Publication type:
- Article
Virtual Reality Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) for paediatric patients with congenital cerebellar diseases: study protocol of a randomised controlled trial.
- Published in:
- 2020
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- Publication type:
- journal article
Virtual-Reality Performance-Based Assessment of Cognitive Functions in Adult Patients With Acquired Brain Injury: A Scoping Review.
- Published in:
- Neuropsychology Review, 2022, v. 32, n. 2, p. 352, doi. 10.1007/s11065-021-09498-0
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- Publication type:
- Article
Expanding the natural history of CASK‐related disorders to the prenatal period.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 4, p. 544, doi. 10.1111/dmcn.15419
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- Publication type:
- Article
Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.
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- 2014
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- Publication type:
- journal article
Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 354, doi. 10.1111/dmcn.12370
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- Publication type:
- Article
A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 8, p. 765, doi. 10.1111/j.1469-8749.2012.04316.x
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- Publication type:
- Article
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
- Published in:
- 2019
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- Publication type:
- journal article
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
- Published in:
- 2017
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- Publication type:
- journal article
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
- Published in:
- 2017
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- Publication type:
- journal article
Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype.
- Published in:
- 2016
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- Publication type:
- journal article
Randomized clinical trial on the effects of a computerized cognitive training for pediatric patients with acquired brain injury or congenital malformation.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41810-1
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- Publication type:
- Article
Randomized clinical trial on the effects of a computerized cognitive training for pediatric patients with acquired brain injury or congenital malformation.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41810-1
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- Publication type:
- Article
Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 7, p. 1146, doi. 10.1111/j.1528-1167.2012.03501.x
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- Publication type:
- Article
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3934, doi. 10.1007/s00415-023-11724-z
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- Publication type:
- Article
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
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- Publication type:
- Article
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
- Published in:
- 2024
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- Publication type:
- Case Study
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 579, doi. 10.1007/s12311-023-01580-y
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- Publication type:
- Article
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
- Published in:
- Cerebellum, 2022, v. 21, n. 6, p. 1144, doi. 10.1007/s12311-021-01350-8
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- Publication type:
- Article
Feasibility of a home-based computerized cognitive training for pediatric patients with congenital or acquired brain damage: An explorative study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199001
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- Publication type:
- Article
Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63555
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- Publication type:
- Article
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.
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- Journal of Child Neurology, 2017, v. 32, n. 1, p. 60, doi. 10.1177/0883073816664668
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- Publication type:
- Article
A Novel Mutation in STXBP1 Gene in a Child With Epileptic Encephalopathy and an Atypical Electroclinical Pattern.
- Published in:
- 2014
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- Publication type:
- Case Study
Cerebroretinal Microangiopathy With Calcifications and Cysts Associated With CTC1 and NDP Mutations.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 12, p. 1702, doi. 10.1177/0883073812467849
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- Publication type:
- Article
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6723, doi. 10.3390/ijms23126723
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- Publication type:
- Article
Remote cognitive training for children with congenital brain malformation or genetic syndrome: a scoping review.
- Published in:
- Journal of Intellectual Disabilities, 2023, v. 27, n. 3, p. 808, doi. 10.1177/17446295221095712
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- Publication type:
- Article