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1. Full Text Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge-Weber Syndrome
by Huang, Lan and Couto, Javier A and Pinto, Anna and Alexandrescu, Sanda and Madsen, Joseph R and Greene, Arin K and Sahin, Mustafa and Bischoff, Joyce
Pediatric neurology, ISSN 0887-8994, 2016, Volume 67, pp. 59 - 63
Pediatrics | Neurology | ddPCR | capillary malformation | Sturge–Weber syndrome | GNAQ | endothelial cell | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | GTP-Binding Protein alpha Subunits, Gq-G11 - genetics | Endothelial Cells - metabolism | Sturge-Weber Syndrome - pathology | Humans | Cells, Cultured | Infant | Male | Sturge-Weber Syndrome - genetics | Sturge-Weber Syndrome - metabolism | Brain - metabolism | Microscopy, Confocal | Flow Cytometry | Platelet Endothelial Cell Adhesion Molecule-1 - metabolism | Brain - pathology | Brain - surgery | Sturge-Weber Syndrome - surgery | Mutation | Endothelial Cells - pathology | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Child | Medical colleges | Genetic aspects | Skin | Genetic disorders | Questions and answers | Endothelium | Platelet-derived growth factor | Endothelial growth factors | Analysis | Brain damage | Index Medicus | Sturge-Weber syndrome
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2. Full Text Metabolic correlates of cognitive function in children with unilateral Sturge–Weber syndrome: Evidence for regional functional reorganization and crowding
by Kim, Jeong‐A and Jeong, Jeong‐Won and Behen, Michael E and Pilli, Vinod K and Luat, Aimee and Chugani, Harry T and Juhász, Csaba
Human brain mapping, ISSN 1065-9471, 04/2018, Volume 39, Issue 4, pp. 1596 - 1606
cognitive function | reorganization | crowding | sturge‐weber syndrome | metabolic connectivity | PET | sturge-weber syndrome | Neuroimaging | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Sturge-Weber Syndrome - psychology | Brain - diagnostic imaging | Humans | Child, Preschool | Male | Positron-Emission Tomography | Sturge-Weber Syndrome - drug therapy | Sturge-Weber Syndrome - metabolism | Functional Laterality | Glucose | Brain - metabolism | Intelligence - physiology | Neural Pathways - diagnostic imaging | Adolescent | Cognition - physiology | Neural Pathways - metabolism | Female | Fluorodeoxyglucose F18 | Radiopharmaceuticals | Sturge-Weber Syndrome - diagnostic imaging | Child | Cohort Studies | Pets | Glucose metabolism | Analysis | Epilepsy | Dextrose | Intelligence | Abnormalities | Regional analysis | Cognitive ability | Cortex | Positron emission | Cerebral hemispheres | Metabolism | Hemispheric laterality | Crowding | Subgroups | Mathematical analysis | Tomography | Children | Lesions | Index Medicus | SPM | brain reorganization | Sturge-Weber syndrome
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3. Full Text GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge–Weber Syndrome
by Sundaram, Senthil K and Michelhaugh, Sharon K and Klinger, Neil V and Kupsky, William J and Sood, Sandeep and Chugani, Harry T and Mittal, Sandeep and Juhász, Csaba
Neuropediatrics, ISSN 0174-304X, 10/2017, Volume 48, Issue 5, pp. 385 - 389
Short Communication | epilepsy | brain tissue | GNAQ mutation | leptomeningeal angiomatosis | Sturge-Weber syndrome | surgery | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - diagnostic imaging | Sturge-Weber Syndrome - pathology | Humans | Child, Preschool | Infant | Male | Sturge-Weber Syndrome - genetics | Drug Resistant Epilepsy - diagnostic imaging | White Matter - surgery | Drug Resistant Epilepsy - genetics | Female | Child | Vascular Malformations - diagnostic imaging | GTP-Binding Protein alpha Subunits, Gq-G11 - genetics | Meninges - pathology | Vascular Malformations - surgery | Drug Resistant Epilepsy - pathology | Vascular Malformations - pathology | White Matter - pathology | Meninges - surgery | Phenotype | White Matter - diagnostic imaging | Meninges - diagnostic imaging | Brain - pathology | Brain - surgery | Drug Resistant Epilepsy - surgery | Sturge-Weber Syndrome - surgery | Mutation | Vascular Malformations - genetics | Sturge-Weber Syndrome - diagnostic imaging | Sturge–Weber syndrome
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4. Full Text Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome
by Day, Alyssa M and McCulloch, Charles E and Hammill, Adrienne M and Juhász, Csaba and Lo, Warren D and Pinto, Anna L and Miles, Daniel K and Fisher, Brian J and Ball, Karen L and Wilfong, Angus A and Levin, Alex V and Thau, Avrey J and Comi, Anne M and Koenig, Jim I and Lawton, Michael T and Marchuk, Douglas A and Moses, Marsha A and Freedman, Sharon F and Pevsner, Jonathan and National Institute of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group and BVMC and SWS Investigator Grp and RDCRN
Pediatric neurology, ISSN 0887-8994, 07/2019, Volume 96, pp. 30 - 36
Glaucoma | Brain involvement | Port-wine birthmark | Gender | Sturge-Weber syndrome | Family history | Seizures | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Glaucoma - etiology | Prognosis | Humans | Stroke - diagnosis | Epilepsy - surgery | Child, Preschool | Infant | Male | Port-Wine Stain - etiology | Epilepsy - etiology | Epilepsy - epidemiology | Young Adult | Port-Wine Stain - diagnosis | Adult | Female | Stroke - epidemiology | Glaucoma - epidemiology | Sturge-Weber Syndrome - diagnosis | Learning Disabilities - diagnosis | Child | Neurosurgical Procedures - statistics & numerical data | Sturge-Weber Syndrome - complications | Intellectual Disability - epidemiology | Severity of Illness Index | Disease Susceptibility | Sturge-Weber Syndrome - epidemiology | Glaucoma - surgery | Glaucoma - diagnosis | Learning Disabilities - etiology | Epilepsy - diagnosis | Port-Wine Stain - epidemiology | Stroke - etiology | Intellectual Disability - diagnosis | Adolescent | Age of Onset | Sex Factors | Ophthalmologic Surgical Procedures - statistics & numerical data | Sturge-Weber Syndrome - surgery | Intellectual Disability - etiology | Learning Disabilities - epidemiology | Child development | Index Medicus
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5. Full Text Predictors of Cognitive Functions in Children With Sturge–Weber Syndrome: A Longitudinal Study
by Bosnyák, Edit, MD and Behen, Michael E., PhD and Guy, William C., PhD and Asano, Eishi, MD, PhD and Chugani, Harry T., MD and Juhász, Csaba, MD, PhD
Pediatric neurology, ISSN 0887-8994, 2016, Volume 61, pp. 38 - 45
Pediatrics | Neurology | epilepsy | longitudinal study | Sturge–Weber syndrome | cognitive functions | MRI | EEG | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sturge-Weber Syndrome - physiopathology | Sturge-Weber Syndrome - psychology | Brain - diagnostic imaging | Prospective Studies | Follow-Up Studies | Intelligence | Brain - physiopathology | Humans | Child, Preschool | Infant | Male | Cognition | Female | Sturge-Weber Syndrome - diagnosis | Child | Longitudinal Studies | Medicine, Experimental | Medical research | Electroencephalography | Seizures (Medicine) | Children's hospitals | Index Medicus | Sturge-Weber syndrome
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6. Full Text Sturge–Weber syndrome: From the past to the present
by Sudarsanam, Annapurna and Ardern-Holmes, Simone L
European journal of paediatric neurology, ISSN 1090-3798, 2013, Volume 18, Issue 3, pp. 257 - 266
Pediatrics | Neurology | Leptomeningeal angioma | Port-wine stain | Aspirin | Epilepsy | Headaches | Sturge–Weber syndrome | Stroke-like episodes | Sturge-Weber syndrome | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sturge-Weber Syndrome - physiopathology | Neurocutaneous Syndromes - diagnosis | Headache - etiology | Sturge-Weber Syndrome - pathology | Brain - physiopathology | Humans | Seizures - diagnosis | Sturge-Weber Syndrome - therapy | Neurocutaneous Syndromes - pathology | Port-Wine Stain - therapy | Seizures - therapy | Headache - pathology | Seizures - pathology | Port-Wine Stain - pathology | Port-Wine Stain - diagnosis | Brain - pathology | Glaucoma | Index Medicus
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7. Full Text Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings
by Pinto, Anna L., MD, PhD and Chen, Liam, MD, PhD and Friedman, Rachel, PhD and Grant, Patricia E., MD and Poduri, Annapurna, MD, MPH and Takeoka, Masanori, MD and Prabhu, Sanjay P., MD and Sahin, Mustafa, MD, PhD
Pediatric neurology, ISSN 0887-8994, 2015, Volume 58, pp. 25 - 30
Pediatrics | Neurology | epilepsy | Sturge-Weber syndrome | cortical malformation | neuroimaging | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sturge-Weber Syndrome - physiopathology | Brain - diagnostic imaging | Sturge-Weber Syndrome - pathology | Humans | Child, Preschool | Male | Treatment Outcome | Drug Resistant Epilepsy - diagnostic imaging | Drug Resistant Epilepsy - pathology | Magnetic Resonance Imaging | Brain - pathology | Brain - surgery | Drug Resistant Epilepsy - surgery | Female | Sturge-Weber Syndrome - surgery | Sturge-Weber Syndrome - diagnostic imaging | Child | Drug Resistant Epilepsy - physiopathology | Medicine, Experimental | Medical research | Brain research | Magnetic resonance imaging | Index Medicus
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8. Full Text Survey of Aspirin Use in Sturge-Weber Syndrome
by Bay, Mihee J and Kossoff, Eric H and Lehmann, Christoph U and Zabel, T. Andrew and Comi, Anne M
Journal of child neurology, ISSN 0883-0738, 6/2011, Volume 26, Issue 6, pp. 692 - 702
aspirin | seizures | Sturge-Weber syndrome | stroke-like episodes | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sturge-Weber Syndrome - epidemiology | Humans | Middle Aged | Child, Preschool | Infant | Male | Sturge-Weber Syndrome - drug therapy | Young Adult | Sturge-Weber Syndrome - rehabilitation | Health Surveys | Fibrinolytic Agents - therapeutic use | Adolescent | Aged, 80 and over | Adult | Female | Surveys and Questionnaires | Aged | Aspirin - therapeutic use | Sturge-Weber Syndrome - diagnosis | Child | Index Medicus
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9. Full Text Current Therapeutic Options in Sturge-Weber Syndrome
by Comi, Anne, MD
Seminars in pediatric neurology, ISSN 1071-9091, 2015, Volume 22, Issue 4, pp. 295 - 301
Pediatrics | Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sturge-Weber Syndrome - physiopathology | Sturge-Weber Syndrome - therapy | Sturge-Weber Syndrome - diagnosis | Sturge-Weber Syndrome - pathology | Humans | Stroke (Disease) | Glaucoma | Propranolol hydrochloride | Care and treatment | Aspirin | Comorbidity | Lasers in surgery | Seizures (Medicine) | Lasers in medicine | Index Medicus
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10. Full Text Ocular manifestations of Sturge–Weber syndrome: Pathogenesis, diagnosis, and management
by Mantelli, Flavio and Bruscolini, Alice and La Cava, Maurizio and Abdolrahimzadeh, Solmaz and Lambiase, Alessandro
Clinical ophthalmology (Auckland, N.Z.), ISSN 1177-5467, 05/2016, Volume 10, pp. 871 - 878
Glaucoma | Port-wine stain | Choroidal hemangiomas | Sturge–Weber syndrome | Congenital disease | Glaucoma surgery | Venous pressure | Diagnosis | Cornea | Photodynamic therapy | Medical imaging | Congenital diseases | Tomography | Mutation
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11. Full Text Sturge-Weber Syndrome
: Clinical Spectrum, Disease Course, and Outcome of 30 Patients
by Jagtap, Sujit and Srinivas, G and Harsha, K. J and Radhakrishnan, Neelima and Radhakrishnan, Ashalatha
6/2013, Volume 28, Issue 6, 7
seizures | facial angioma | leptomeningeal angiomas | port wine stain | Sturge-Weber syndrome | glaucoma | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Glaucoma - psychology | Follow-Up Studies | Patient Care Team | Sturge-Weber Syndrome - therapy | Tomography, X-Ray Computed | Epilepsy - epidemiology | Glaucoma - epidemiology | Quality of Life - psychology | Sturge-Weber Syndrome - diagnosis | Drug Resistance | Intellectual Disability - epidemiology | Sturge-Weber Syndrome - psychology | Epilepsy - psychology | Meninges - pathology | Sturge-Weber Syndrome - epidemiology | Anticonvulsants - therapeutic use | Cooperative Behavior | Treatment Outcome | Combined Modality Therapy | Glaucoma - diagnosis | Epilepsy - diagnosis | Intellectual Disability - therapy | Interdisciplinary Communication | Magnetic Resonance Imaging | Intellectual Disability - diagnosis | Glaucoma - therapy | Intellectual Disability - psychology | Longitudinal Studies | Epilepsy - therapy | Cohort Studies | Index Medicus
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