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The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1264, doi. 10.1093/brain/awad379
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- Publication type:
- Article
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1344, doi. 10.3390/ijms23031344
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- Publication type:
- Article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 820, doi. 10.1002/ajmg.a.38076
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- Article
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.
- Published in:
- Molecular Brain, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13041-020-00584-7
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- Publication type:
- Article
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
- Published in:
- Epilepsia Open, 2023, v. 8, n. 1, p. 205, doi. 10.1002/epi4.12678
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- Publication type:
- Article
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 485, doi. 10.1002/acn3.51286
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- Publication type:
- Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
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- Publication type:
- Article
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00523
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- Publication type:
- Article
The kids are OK: it is discrimination, not same-sex parents, that harms children.
- Published in:
- Medical Journal of Australia, 2017, v. 207, n. 9, p. 1, doi. 10.5694/mja17.00943
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- Publication type:
- Article
The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.
- Published in:
- 2018
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- Publication type:
- journal article
HFE p.C282Y Heterozygosity Is Associated With Earlier Disease Onset in Friedreich Ataxia.
- Published in:
- Movement Disorders, 2014, v. 29, p. 940, doi. 10.1002/mds.25795
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- Publication type:
- Article