Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
A Woman With Multifocal Ischemic Strokes and Progressive Cognitive Impairment Due to Intravascular Lymphoma
Stroke 54:e488-e451, Stamm,B., et al, 2023
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Clinicopath Conf, Neuro-Behcets Disease
NEJM 360:2341-2351, Case 17-2009, 2009
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
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
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Clinical Follow-Up and Immunogenetic Studies of 32 Patients with Eosinophilia-Myalgia Syndrome
Lancet 337:1071-1074, Kaufman,L.D.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Cranial MR Imaging in Hypomelanosis of Ito
J Comput Assist Tomogr 14:981-983, Williams III,D.W.&Elster,A.D., 1990
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
A 30-Year-Old Woman Presenting with Rapidly Progressive Dementia and Extreme Hypoglycorrhachia
Neurol 102:e209188, Bai,X.,et al, 2024
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
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
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
Myelopathy in Behcets Disease: The Bagel Sign
Ann Neurol 82:288-298, Uygunoglu, U.,et al, 2017
Patients with Rosacea have Increased Risk of Dementia
Ann Neurol 79:921-928, Egeberg, A.,et al, 2016
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Pellagra (Niacin, Nicotinic Acid, B3 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1170, Ropper, A.H.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Lyme Disease (Erythema Chronicum Migrans; Borreliosis
Adams & Victors Principles of Neurology, Chp 32, pg 728, Ropper, A.H.,et al, 2014
Herpes Zoster Ophthalmicus-Induced Oculomotor Nerve Palsy
J Optom 6:60-65, Harthan, J.S. & Borgman, C.J., 2013
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Herpes Zoster Ophthalmicus-Related Oculomotor Palsy Accompanied by Hutchinson Sign
Neurol 74:e65, Reilly, G.S. & Shin, R.K., 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Neurologic Improvement After Peripheral Blood Stem Cell Transplantation in POEMS Syndrome
Neurol 71:1691-1695, Kuwabara,S.,et al, 2008
Central Nervous System Involvement after Herpes Zoster Ophthalmicus
Acta Ophthalmol 86:806-809, Haargaard, B.,et al, 2008
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006