Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Clinicopath Conf:Lymphoplasmocytic Lymphoma with Motor Neuronopathy,Waldenstrom's Macroglobulinemia
NEJM 340:1661-1669, , 1999
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Bobble-Head Doll Syndrome in a Child
Neurol 104: e213694, Chityala,A.,et al, 2025
A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 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
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Reversible Gait Ataxia
Neurol 88:e145-e149, Abkur, T.M. & Bede, P., 2017
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
An 82-year-old man with Worsening Gait
Neurol 89:e246-e252, Chew, S.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Advances in Progressive Supranuclear Palsy: New Diagnostic Criteria, Biomarkers, and Therapeutic Approaches
Lancet Neurol 16:552-563, Boxer, A.L.,et al, 2017
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Mystery Case: A 63-year-old Man with Progressive Proximal Pain and Weakness
Neurol 82:e26-e29, Scripko, P.D.,et al, 2014
Stiff Person Syndrome Masquerading as Panic Attacks
Lancet 383:668, Ho, C.S.H.,et al, 2014
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,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
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Movement Disorders Emergencies Part 1
, Robottom, B.J., et al, 2011
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Mysterious Falls and a Nasal Voice
Lancet 370:712, Bhandari,A. &Adenwalla,F., 2007
Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Predictors of Nursing Home Placement in Huntington Disease
Neurol 60:998-1001, Wheelock,V.L.,et al, 2003
A Six-Year-Old Girl with Tick paralysis
NEJM 342:90-94, Felz,M.W.,et al, 2000
Clinical Correlates of Vascular Parkinsonism
Arch Neurol 56:98-102, Winikates,J.&Jancovic,J., 1999
Subcotical Arteriosclerotic Encephalopathy (Binswangers Disease)
, Ghika,J. &Bogousslavsky, J., 1998
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
Clinicopath Conf
Spinal Dural Arteriovenous Fistula, Case 12-1992, NEJM 326:816-824992., , 1992
Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992
Anti-Ri:An Antibody Associated with Paraneoplastic Opsoclonus and Breast Cancer
Ann Neurol 29:241-251, Luque,F.A.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Management of Old People with Neck Trauma, Injury to the Cervical Cord is Common But May Be Overlooked
BMJ 299:633-634, Johnston,R.A., 1989
Hyperextension Injuries to the Cervical Cord in the Elderly
BMJ 299:669-670, Crawford,P.M.&Shepherd,D.I., 1989
The Clinical Features & Natural History of the Steele-Richardson-Olszewski Syndrome (Prog Supranuclear Palsy)
Neurol 36:1005-1006, Maher,E.R.,et al, 1986