Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
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, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes
JAMA Neurol 75:1284-1285, Lin, J.,et al, 2018
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Normal Pressure Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 624, Ropper, A.H.,et al, 2014
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
A 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Clinicopatholigic Conference, Rheumatoid Arthritis with Vasculitis Causing A Confluent Mononeuritis Multiplex
NEJM 390:1312-1322, Case 11-2024, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
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
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
A 60-year-old woman with ataxia
Neurol 90:e1627-e1630, Dandapat, S.,et al, 2018
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
A 27-year-old man with unsteady gait
Neurol 89:e120-e123, Fernandez, D.,et al, 2017
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Cerebral Fat Embolism
Stroke 46:e251-e253, Mijalski, C.,et al, 2015
Stiff Person Syndrome Masquerading as Panic Attacks
Lancet 383:668, Ho, C.S.H.,et al, 2014
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
An Independent Elderly Woman with Rapid Onset of Coma
JAMA Neurol 71:1043-1047, Xu, J.,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
Limbic Encephalitis as the Presenting Feature of Sj�gren Syndrome
Neurol Clin Pract 3:165-167, Finelli, P. & Inoa, V., 2013
Clinicopathologic Conference, Paraneoplastic Stiff Person Syndrome with Limbic Encephalitis with Anti-Amphiphysin Antibodies with Metastatic Carcinoma of Breast
NEJM 367:851-861, Case 27-2012, 2012
Movement Disorders Emergencies Part 1
, Robottom, B.J., et al, 2011
Copper Deficiency as a Treatable Cause of Poor Balance
BMJ 340:864-866, Khaleeli,Z., et al, 2010
Lyme Neuroborreliosis Presenting as the Syndrome of Inappropriate Antidiutetic Hormone Secretion
MedGenMed 8:71, Perkins, M.P.,et al, 2006
Recent Developments in Vitamin D Deficiency and Muscle Weakness Among Elderly People
BMJ 330:524-526, Venning,G., 2005
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Emergency Calls in Acute Stroke
Stroke 34:1005-1009, Handschu,R.,et al, 2003
Dementia with Lewy Bodies
Lancet 362:1689-1690, Wilcock,G.K., 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002