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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Sturge-Weber Syndrome
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Overview of Phenylketonuria
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Phenylketonuria
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The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Hereditary Leukoencephalopathy and Palmoplantar Keratoderma:A New Disorder with Increased Skin Collagen Content
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
Hypomelanosis of Ito
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Cockayne Syndrome: Review of 140 Cases
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Neurological Manifestations in Xeroderma Pigmentosum
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Neurocutaneous Disease
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A 30-Year-Old Woman Presenting with Rapidly Progressive Dementia and Extreme Hypoglycorrhachia
Neurol 102:e209188, Bai,X.,et al, 2024
Magnetic Resonance Imaging Features of Encephalitis of Scrub Typhus
JAMA Neurol 81:654-655, Li,H.,et al, 2024
A 40-Year-Old Woman Presenting with Encepatholopathy and Paraparesis
Neurol 101:e94-e98, AlSabah,A.,et al, 2023
A Woman With Multifocal Ischemic Strokes and Progressive Cognitive Impairment Due to Intravascular Lymphoma
Stroke 54:e488-e451, Stamm,B., et al, 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Tuberous Sclerosis Complex:Clinical Features
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Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Ehlers-Danlos Syndromes
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A Patient with Psychiatric Illness and Multiple Hemorrhages
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Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Behcet Disease
emedicine.medscape.com Dec, Davey-Ranasinghe, N. & Diamond, H.S., 2018
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
Neuropsychiatric Involvement of Behcets Disease
www.SMGEbooks.com Dec, Soyak, M., 2017
Neurocutaneous Melanosis with Diffuse Leptomeningeal Malignant Melanoma in an Adult
Neurol 86:e75-e79, Bhatia, R.,et al, 2016
Patients with Rosacea have Increased Risk of Dementia
Ann Neurol 79:921-928, Egeberg, A.,et al, 2016