A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
MR Imaging Patterns and Prognosis in Powassan Virus Encephalitis
Neurologist doi.10.1097/NRI.0000000000000533, Finelli,P.F., 2023
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Acute Viral Encephalitis
NEJM 379:357-366, Tyler,K.L., 2018
Clinical Presentation and Cranial MRI Findings of Listeria Monocytogenes Encephalitis
Neurologist 23:198-203, Arslan, F.,et al, 2018
Progressive Multifocal Leukoencephalopathy: Epidemiology, Clinical Manifestations, and Diagnosis
www.UptoDate.com, May, Koralnik, I.J., 2018
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
Complications and Mortality in Hereditary Hemorrhagic Telangiectasia
Neurol 84:1886-1893, Donaldson, J.W.,et al, 2015
Recommendations for the Management of Cerebral and Cerebellar Infarction with Swelling
Stroke 45:1222-1238, Wijdicks, E.F.M.,et al, 2014
Neuroimaging Features and Predictors of Outcome in Eclamptic Encephalopathy: A Prospective Observational Study
AJNR 35:1728-1734, Junewar, V.,et al, 2014
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Aspergillus Meningitis: A Rare Clinical Manifestation of Central Nervous System Aspergillosis
J Infect 66:218-238, Antinori, S.,et al, 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Epstein-Barr Virus Infections of the Nervous System
www.medlink.com, Nov, Amlie-Lefond,C., 2011
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Pulmonary AVMs, including hereditary hemorrhagic telangiectasia: Diagnosis and Treatment
UpTo Date, August, Gossage, J.R., 2010
Isolated Vein Thrombosis of the Posterior Fossa Presenting as Localized Cerebellar Venous Infarctions or Hemorrhages
Stroke 41:2358-2361, Ruiz-Sandoval, J.L.,et al, 2010
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Fatal Case of Deer Tick Virus Encephalitis
NEJM 360:2099-2107, Tavakoli,N.P.,et al, 2009
Intracerebral Haemorrhage
Lancet 373:1632-1644, Qureshi,A.I.,et al, 2009
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Chasing "Chasing the Dragon" with MRI: Leukoencephalopathy in Drug Abuse
Br J Radiol 78:997-1004, Bartlett,E. &Mikulis,D.J., 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Clinicopath Conf., Meningencephalitis and Sepsis Due to Neisseria Meningitidis Infection
NEJM 349:2341-2349, Case 38-2003, 2003
Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003
Adult Cerebral Malaria:Prognostic Importance of Imaging Findings and Correlation with Postmortem Findings
Radiology 224:811-816, Patankar,T.F.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Spontaneous Intracerebral Hemorrhage
NEJM 344:1450-1460, Qureshi,A.I.,et al, 2001