A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
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
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
Arch Neurol 49:28-31, Hulette,C.M.,et al, 1992
Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
Neurol 32:1295-1299, Longstreth,W.T.Jr.,et al, 1982
Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
Clinicopathologic Conference, Paraneoplastic Encephalomyelitis Due to Small-Cell Lung Carcinoma and Concurrent Cerebral Amyloid Angiopathy
NEJM< 391357-369, Case 23-2024, 2024
Itching Frequency and Neuroanatomic Correlated in Frontotemporal Lobar Degeneration
JAMA Neurol 81:977-984, Hadad,R.,et al, 2024
SGLT2 Inhibitor Use and Risk of Dementia and Parkinson Disease Among Patients With Type 2 Diabetes
Neurol 103:e209805, Kim,H.K.,et al, 2024
Cognitive and Clinical Characteristics of Patients with Limbic-Predominant Age-Related TDP-43 Encephalopathy
Neurol 100:e2027-e2035, Pagnotti,R.M.B.,et al, 2023
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
Sport Associated Dementia
BMJ 372:N168, Stewart, W., 2021
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,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
Neurodegenerative Disease Mortality Among Former Professional Soccer Players
NEJM 381:1801-1808,1862, Mackay, D.F.,et al, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
NEJM 376:158-167, Case 1-2017, 2017
Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 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
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
A 72-year-old Man with Rapid Cognitive Decline and Unilateral Muscle Jerks
Neurol 82:e194-e197, Duncan, M.,et al, 2014
Effect of Rituximab in Patients with Leucine-Rich, Glioma-Inactivated 1 Antibody-Associated Encephalopathy
JAMA Neurol 71:896-900, Irani, S.R.,et al, 2014
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Limbic Encephalitis as the Presenting Feature of Sj�gren Syndrome
Neurol Clin Pract 3:165-167, Finelli, P. & Inoa, V., 2013
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia with Cerebellar Ataxia
Arch Neurol 69:1064-1066, Mirabelli-Badenier, M.,et al, 2012
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
Paraneoplastic Upbeat Nystagmus
Neurol 77:691-693, Wray, S.H.,et al, 2011