Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992
Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Clinicopathological Conference, Eosinophilic meningitis due to Angiostrongylus cantonensis infection
NEJM 392:699-709, Case 5-2025, 2025
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Neurovascular Complications of Iatrogenic Fusarium solani Meningitis
NEJM 390:522-529, Strong, N.,et al, 2024
Multiple Contrast Enhancing Subdural Lesions
BMJ 387:e079362, Liu,J. & Sun,Z., 2024
Cerebral Alveolar Echinococcosis
NEJM 388:453, Ju,H. & Liu,C., 2023
Monkeypox-Associated Central Nervous System Disease:A Case Series and Review
Ann Neurol 93:893-905, Money,K.M.,et al, 2023
Skin Lesions, Foot Drop, and Hand Contractures
JAMA doi:10.1001/JAMA.2023.9915, Filley,A.R.,et al, 2023
Neurologic Complications of Babesiosis, United States, 2011-2021
Emerg Inf Dis 29:1127-1135, Locke,S.,et al, 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Neuroimaging Findings in Parechovirus Encephalitis: A Case Series of Pediatric Patients
Pediatr Neurol 130:41-45, Tierradentro-Garcia, L.O.,et al, 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
A 71-Year-Old Man with Horizontal Gaze Palsy, Anarthria, and Quadriparesis
Neurol 96:1146-1150, Cheema, I.,et al, 2021
A 29-Year-Old Man with Fevers and Rapidly Progressive Cranial Neuropathies
Neurol 97:95-98, Dessy, A.,et al, 2021
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
A Rare Presentation of Whipple Disease
Neurol 94:e758-e761, Koek, A.T.,et al, 2020
CT Scanning in Suspected Stroke or Head Trauma: Is It Worth Going the Extra Mile and Including the Chest to Screen for COVID-19 Infection?
AJNR 41:1165-1169, Kwee, R.M.,et al, 2020
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
Acute Encephalitis in Immunocompetent Adults
Lancet 393:702-716, Venkatesan, A.,et al, 2019
Clinicopathologic Conference, Ocular Syphilis
NEJM 380:1062-1071, Case 8-2019, 2019
Clinicopathologic Conference, Adenovirus Meningoencephalitis
NEJM 381:1459-1470, Case 31-2019, 2019
Clinical Manifestations and Diagnosis of Nocardiosis
UptoDate May, Spelman, D., 2019
Human Parechovirus Meningoencephalitis: Neuroimaging in the Era of Polymerase Chain Reaction-Based Testing
AJNR 40:1418-1421, Sarma, A.,et al, 2019
Clinicopathologic Conference, Human Herpesvirus 6-Related Meningoencephalitis
NEJM 378:659-669, Case 5-2018, 2018
A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018
A 56-year-old woman with acute vertigo and diplopia
Neurol 90:748-752, Sharma, R.,et al, 2018
A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018
Acute Viral Encephalitis
NEJM 379:357-366, Tyler,K.L., 2018
Clinicopathologic Conference, Lyme Meningoradiculitis
NEJM 379:1862-1868, Case 34-2018, 2018
Human Parechovirus: An Increasingly Recognized Cause of Sepsis-Like Illness in Young Infants
Clin Microbiol Reviews 31:1-17, Olijve, L.,et al, 2018