A 67 YEar-Old Woman with Progressive Headache, Visual Hallucinations, and Seizures
Neurol 104:e213496, Gheihman,G.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Hand Posture as Localizing Sign in Adult Focal Epileptic Seizures
Ann Neurol 86:793-800, Ferando, I.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 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
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Long-Term Outcomes Among Adult Survivors of Childhood Central Nervous System Malignancies in the Childhood Cancer Survivor Study
J Natl Cancer Inst 101:946-958, Armstrong,G.T.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Subcotical Arteriosclerotic Encephalopathy (Binswangers Disease)
, Ghika,J. &Bogousslavsky, J., 1998
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Clinicopath Conf
Renal Cholesterol Embolism (after CABG) , Case 2-1991, NEJM 324:113-1201., , 1991
The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
Ann Int Med 111:400-410, Ho,D.D.,et al, 1989
Diagnostic Criteria for Rett Syndrome
The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23:425-4281988., , 1988
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Zorevunersen in Children and Adolescents with Dravet Syndrome
NEJM 394:969-982, Laux,L.,et al, 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Clinicopathologic Conference, Posterior Reversible Encephalopathy Syndrome Due to Sickle Cell Disease
NEJM 392:268-276, Case 2-2025, 2025
Chronic Neuropsychiatric Sequelae Associated with Kambo Intoxication
JAMA Neurol 82:418-419, Jauregui,R.,et al, 2025
A 64-Year-Old Man with Confusion, Nausea, Seizure, and Fever
Neurol 104:e213659, Xu,A.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Neuroimaging Findings in Children and Young Adults with Neurotoxicity after CAR T-Cell Therapy for B-Cell Malignancies
Neurol 105:e214086, McGuire,J.L.,et al, 2025
A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
Neurol 105:e214299, Gutierrez-Abizuri,C.,et al, 2025
Clinicopathologic Conference, Subacute Painless Thyroiditis
NEJM 393:2036-2045, Quijije,N.V.,et al, 2025
A 5-Year-Old Boy with Subacute and Refractory Myoclonus
Neurol 106:e214457, Park,P.S.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
Primary Central Nervous System Lymphoma:Clinical Features, Diagnosis, and Extent of Disease Evaluation
www.UptoDate.com, Jan, Nayak,L & Batchelor,T., 2024
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023