A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Clinicopathologic Conference, Psychotic Disorder Due to a General Medical Condition (postictal psychosis)
NEJM 391:2036-2046, Case 37-2024, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Epilepsy in Older People
Lancet 395:735-748, Sen, A.,et al, 2020
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Encephalitis with mGluR5 antibodies
Neurol 90:e1964-e1972, Spatola, M.,et al, 2018
Investigations in GABA? Receptor Antibody-Associated Encephalitis
Neurol 88:1012-1020,1010, Spatola, M.,et al, 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
NMDA-Receptor Encephalitis
DynaMed Plus Sept 2016, Rae-Grant, A.,et al, 2016
Resective Epilepsy Surgery for Drug-Resistant Focal Epilepsy
JAMA 313:285-293, Jobst, B.C. & Cascino, G.D., 2015
Brain Abnormalities in Newly Diagnosed Neuropsychiatric Lupus: Systematic MRI Approach and Correlation with Clinical and Laboratory Data in a Large Multicenter Cohort
Autoimmun Rev 14:153-159, Sarbu, N.,et al, 2015
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Autoimmune Epilepsy
Arch Neurol 69:582-593,565, Quek, A.M.L.,et al, 2012
Immunotherapy-Responsive Chorea as the Presenting Feature of LGI1-Antibody Encephalitis
Neurol 79:195-196, Tofaris,G.K.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
CNS Complications of Radiotherapy and Chemotherapy
Lancet 374:1639-1651, Soussain,C.,et al, 2009
Tuberous Sclerosis Complex: A Tale of Two Genes
Neurol 70:904-905, Nass,R. &Crino,P.B., 2008
Concussion
NEJM 356:166-172, Ropper,A.H. &Gorson,K.C., 2007
Brain Glucose Supply and The Syndrome of Infantile Neuroglycopenia
Arch Neurol 64:507-513, Pascual,J.M.,et al, 2007
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Course and Outcome of Acute Limbic Encephalitis With Negative Voltage-Gated Potassium Channel Antibodies
JNNP 78:391-394, Samarasekera,S.R., et al, 2007
GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Potassium Channel Antibody-Associated Encephalopathy: A Potentially Immunotherapy-Responsive Form of Limbic Encepahlitis
Brain 127:701-712, Vincent,A.,et al, 2004
Potentially Reversible Autoimmune Limbic ncephalitis with Neuronal Potassium Channel Antibody
Neurol 62:1177-1182,1040, Thieben,M.J.,et al, 2004
Psychogenic Status Epilepticus in Children: Psychiatric and Other Risk Factors
Neurol 54:969-970, Pakalnis,A.,et al, 2000
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
Practice Parameter: Screening and Diagnosis of Autism
Neurol 55:468-479, Filipek,P.A. et al, 2000
Partial Seizures Presenting as Panic Attacks
BMJ 321:1002-1003, Thompson,S.A.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Long-Term Intellectual and Behavioral Outcomes of Children with Febrile Convulsions
NEJM 338:1723-1728, Verity,C.M.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
The Efficacy of Ginkgo Biloba on Cognitive Function in Alzheimer Disease
Arch Neurol 55:1409-1415, Oken,B.S.,et al,, 1998
Cognitive Recovery Instead of Decline After Acute Encephalitis:A Prospective Follow Up Study
JNNP 63:222-227, Hokkanen,L.&Launes,J., 1997
Temporal Lobectomy for Refractory Epilepsy
JAMA 276:470-475, Sperling,M.R.,et al, 1996