Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Clinicopathologic Conference, Noncirrhotic hyperammonemia after Roux-en-Y Gastric Bypass
NEJM 389:1221-1230, Case 30-2023, 2023
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Advanced Dementia
NEJM 372:2533-2540, Mitchell, S.L., 2015
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
Tau Forms in CSF as a Reliable Biomarker for Progressive Supranuclear Palsy
Neurol 71:1796-1803, Borroni,B.,et al, 2008
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Clinicopath Conf:Lymphoplasmocytic Lymphoma with Motor Neuronopathy,Waldenstrom's Macroglobulinemia
NEJM 340:1661-1669, , 1999
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Clinicopath Conf
Hodgkin's Disease, Paraneoplastic Cerebellar Degeneration, Case 21-1997, NEJM 337:115-12297., , 1997
Case Records of MGH-Polycythemia
Carotid Occlusion & Cerebral Infarcts, NEJM 291:96674., , 1974
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
Clinicopathological Conference, Powasan Virus Encephalitis
NEJM 393:176-184, Case 19-2025, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Clinicopathologic Conference, Myasthenia Gravis
NEJM 391:1441-1450, Case 32-2024, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 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
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
Ann Neurol 92:201-212, Lindgren, U.,et al, 2022
A 71-Year-Old Man Presenting with Acute Onset Dysarthria and Dysphagia
Neurol 96:180-184, Spagni, G.,et al, 2021
A 29-Year-Old Man with Fevers and Rapidly Progressive Cranial Neuropathies
Neurol 97:95-98, Dessy, A.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Ptosis that Resolves with Application of an Ice Pack
BMJ 369:m1147, Chakraborty, A. & Jacob, J., 2020
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Wilson Disease
NIDDK Oct2018, , 2018
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Clinical Manifestations of Myasthenia Gravis
UptoDate Aug 2016, Bird, S.J., 2016
Clinicopathologic Conference, Botulism
NEJM 372:364-372, Case 3-2015, 2015
Pharyngeal-Cervical-Brachial Variant of Guillain-Barr� Syndrome
JNNP 85:339-344, Wakerley, B.R. & Yuki, N., 2014
Primary Sjogren Syndrome Presenting as Isolated Lesion of Medulla Oblongata
Neurol 84:e5-e6, Chen, J.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Botulism
Adams & Victors Principles of Neurology Chp 43, pg 1218, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Rabies Encephalitis
NEJM 368:172-180, Case 1-2013, 2013
Progressive Dysphagia Without Dysarthria
Pract Neurol 13:197, Wakerley,B.R.,et al, 2013
Inflammatory Myopathies with Anti-Ku Antibodies
Medicine 91:95-102, Rigolet,A.,et al, 2012
Clinicopathologic Conference, Villaret Syndrome (Ipsilateral Cranial Nerves and Cervical Sympathetic Fibers) due to a Carotid-Artery Dissection and an Associated Aneurysm
NEJM 366:2306-2313, Case 18-2012, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011