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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
- Published in:
- 2020
- By:
- Publication type:
- Letter
An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 9, p. 2154, doi. 10.1111/j.1528-1167.2009.02072.x
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- Publication type:
- Article
Quantitative EEG Asymmetry Correlates with Clinical Severity in Unilateral Sturge-Weber Syndrome.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 1, p. 191, doi. 10.1111/j.1528-1167.2006.00630.x
- By:
- Publication type:
- Article
Risk Factors for Attention and Behavioral Issues in Pediatric Sickle Cell Disease.
- Published in:
- Clinical Pediatrics, 2015, v. 54, n. 11, p. 1087, doi. 10.1177/0009922815594356
- By:
- Publication type:
- Article
Dynamic MR perfusion and proton MR spectroscopic imaging in sturge-weber syndrome: Correlation with neurological symptoms.
- Published in:
- Journal of Magnetic Resonance Imaging, 2006, v. 24, n. 2, p. 274, doi. 10.1002/jmri.20627
- By:
- Publication type:
- Article
Corticospinal tract insult alters GABAergic circuitry in the mammalian spinal cord.
- Published in:
- Frontiers in Neural Circuits, 2013, v. 7, p. 1, doi. 10.3389/fncir.2013.00150
- By:
- Publication type:
- Article
Increased Choroidal Thickness in Patients With Sturge-Weber Syndrome.
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 9, p. 1216, doi. 10.1001/jamaophthalmol.2013.4044
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- Publication type:
- Article
Impact of trichostatin A and sodium valproate treatment on post-stroke neurogenesis and behavioral outcomes in immature mice.
- Published in:
- Frontiers in Cellular Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fncel.2013.00123
- By:
- Publication type:
- Article
Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment‐resistant epilepsies in the Expanded Access Program.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 8, p. e156, doi. 10.1111/epi.17665
- By:
- Publication type:
- Article
Long‐term safety and treatment effects of cannabidiol in children and adults with treatment‐resistant epilepsies: Expanded access program results.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1540, doi. 10.1111/epi.14477
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- Publication type:
- Article
Ischemia-Induced Neuroinflammation Is Associated with Disrupted Development of Oligodendrocyte Progenitors in a Model of Periventricular Leukomalacia.
- Published in:
- Developmental Neuroscience, 2013, v. 35, n. 2/3, p. 182, doi. 10.1159/000346682
- By:
- Publication type:
- Article
Aspirin Use in Sturge-Weber Syndrome: Side Effects and Clinical Outcomes.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 2, p. 213, doi. 10.1177/0883073812463607
- By:
- Publication type:
- Article
Importance of Utilizing a Sensitive Free Thyroxine Assay in Sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 2, p. 269, doi. 10.1177/0883073812463606
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- Publication type:
- Article
Survey of Aspirin Use in Sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 6, p. 692, doi. 10.1177/0883073810388646
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- Publication type:
- Article
Hemiparesis Is a Clinical Correlate of General Adaptive Dysfunction in Children and Adolescents With Sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 6, p. 701, doi. 10.1177/0883073808329529
- By:
- Publication type:
- Article
Transcranial Doppler Ultrasound in Children with Sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 2, p. 137, doi. 10.1177/0883073807307079
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- Publication type:
- Article
Self-Reported Treatment Patterns in Patients With Sturge-Weber Syndrome and Migraines.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 6, p. 720, doi. 10.1177/0883073807304008
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- Publication type:
- Article
Immature Mouse Unilateral Carotid Ligation Model of Stroke.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 12, p. 980, doi. 10.1177/08830738050200120901
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- Publication type:
- Article
Quantitative Analysis of Cerebral Cortical Atrophy and Correlation With Clinical Severity in Unilateral Sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 11, p. 867, doi. 10.1177/08830738050200110201
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- Publication type:
- Article
Comorbidity of Epilepsy and Headache in Patients With Sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 8, p. 678
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- Publication type:
- Article
Sturge-Weber Syndrome: Altered Blood Vessel Fibronectin Expression and Morphology.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 7, p. 572, doi. 10.1177/08830738050200070601
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- Publication type:
- Article
Pathophysiology of sturge-Weber Syndrome.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 8, p. 509, doi. 10.1177/08830738030180080701
- By:
- Publication type:
- Article
Encephalofacial Angiomatosis Sparing the Occipital Lobe and Without Facial Nevus: On the Spectrum of Sturge-Weber Syndrome Variants?
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 1, p. 35, doi. 10.1177/08830738030180010601
- By:
- Publication type:
- Article
Familial Clustering of Autoimmune Disorders and Evaluation of Medical Risk Factors in Autism.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 6, p. 388
- By:
- Publication type:
- Article
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 266, doi. 10.1002/humu.24308
- By:
- Publication type:
- Article
Gαq and hyper-phosphorylated ERK expression in Sturge–Weber syndrome leptomeningeal blood vessel endothelial cells.
- Published in:
- Vascular Medicine, 2019, v. 24, n. 1, p. 72, doi. 10.1177/1358863X18786068
- By:
- Publication type:
- Article
Urine vascular biomarkers in Sturge–Weber syndrome.
- Published in:
- Vascular Medicine, 2013, v. 18, n. 3, p. 122, doi. 10.1177/1358863X13486312
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- Publication type:
- Article
Poster 229: Physiatric Experience with Sturge‐Weber Syndrome: A Case Series of 30 Patients.
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Poster 229: Physiatric Experience with Sturge-Weber Syndrome: A Case Series of 30 Patients
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Impact of age and strain on ischemic brain injury and seizures after carotid ligation in immature mice
- Published in:
- International Journal of Developmental Neuroscience, 2009, v. 27, n. 3, p. 271, doi. 10.1016/j.ijdevneu.2008.12.006
- By:
- Publication type:
- Article
Epilepsy Mechanisms in Neurocutaneous Disorders: Neurofibromatosis Type 1, and Sturge-Weber Syndrome.
- Published in:
- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00087
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- Publication type:
- Article
Strain Variability, Injury Distribution, and Seizure Onset in a Mouse Model of Stroke in the Immature Brain.
- Published in:
- Developmental Neuroscience, 2005, v. 27, n. 2-4, p. 127, doi. 10.1159/000085984
- By:
- Publication type:
- Article
Neuroprotection for Ischemic Injury in the Immature Brain.
- Published in:
- Current Pediatric Reviews, 2005, v. 1, n. 2, p. 135, doi. 10.2174/1573396054065448
- By:
- Publication type:
- Article