A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Wilson Disease
NIDDK Oct2018, , 2018
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, 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
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Non-Progressive Familial Idiopathic Intracranial Calcification:A Family Report
JNNP 59:432-434, Callender,J.S., 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
Neurol 100:344-348, Chishimba,L.C.,et al, 2023
Hearing Aids and Cochlear Implants in the Prevention of Cognitive Decline and Dementia-Breaking Through the Silence
JAMA Neurol 80:127-128, Denham,M.W.,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
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
Neurol 101:979-980, Li,X.,et al, 2023
Association Between Occupational Exposure to Formaldehyde and Cognitive Impairment
Neurol 98:e633-e640, Letellier, N.,et al, 2022
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome
Neurol 96:848-863, Katz, D.I.,et al, 2021
Headache, Cognitive Decline, and a Curious Rim-Enhancing Lesion
JAMA Neurol 78:613-614, Beaman, C.B.,et al, 2021
Clinicopathologic Conference, Delayed Postthypoxic Leukoencephalopathy
NEJM 384:2438-2445, Case 19-2021, 2021
Clinicopathologic Conference, Cerebral Amyloid Angiopatny-Related Inflammation
NEJM 385:358-368, Case 22-2021, 2021
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
Hashimoto Encephalopathy in the 21st Century
Neurol 94:e217-e224, Mattozzi, S.,et al, 2020
Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
A 47-year-old Man with Diffuse White Matter Disease and Rapidly Progressive Dementia
Neurol 92:e2832-e2837, Di Luca, D.G.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Encephalitis with mGluR5 antibodies
Neurol 90:e1964-e1972, Spatola, M.,et al, 2018
Selenium Toxicity Associated with Reversible Leukoencephalopathy and Cortical Blindness
JAMA Neurol 75:1282-1283, Rae, W.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018