Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Encephalitis Lethargica (non Economo Disease, sleeping sickness)
Adams & Victors Principles of Neurology, Chp 33, pg 768, Ropper, A.H.,et al, 2014
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
MR Imaging Patterns and Prognosis in Powassan Virus Encephalitis
Neurologist doi.10.1097/NRI.0000000000000533, Finelli,P.F., 2023
Neuroimaging Biomarkers in a Patient with Probable Psychiatric-Onset Prodromal Dementia with Lewy Bodies
Neurol 99:654-657, Urso, D.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., 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
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
Eur J Neurol 25:41-58, Deutschlander, A.B.,et al, 2018
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
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
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy
JAMA Neurol 71:104-107, Erro, R.,et al, 2014
Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1096, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Movement Disorders Emergencies Part 1
, Robottom, B.J., et al, 2011
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
Bilateral Basal Ganglia Lesions in Patients with End-Stage Diabetic Nephropathy
Nephrology 13:68-72, Li, J.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
CNS Lupus: A Study of 41 Patients
Neurol 69:644-654, Joseph,F.G.,et al, 2007
A 75-Year-Old Man With Cognitive Impairment and Gait Changes, Lewy Body Disease
Neurol 69:1183-1189, Lippa,C.F.,et al, 2007
The Syndrome of Bilateral Basal Ganglia Lesions in Diabetic Uremic Patients Presenting with a Relapsing and Remitting Course: A Case Report
Acta Neurol Taiwan 16:226-230, Sheu, Y.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Reversible Dementia with Parkinsonian Features Associated with Budesonide Use
Neurol 67:723, Proda,C.I.,et al, 2006
Vascular Parkinsonism and Dementia in a CADASIL Case with Intact Nigrostriatal Dopaminergic System
Akt Neurol 33: Suppl, Wegner,F.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Morning Glory Sign: A Particular MR Finding in Progressive Supranuclear Palsy
Magn Reson Med Sci 3:125-132, Adachi, M., et al, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Dementia with Lewy Bodies
Lancet 362:1689-1690, Wilcock,G.K., 2003
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Diagnosing Dementia with Lewy Bodies
Lancet 354:1227-1228, McKeith,I.G.,et al, 1999
Bilateral Substantia Nigra Changes on MRI in a Patient with Encephalitis Lethargica
Neurol 53:1860-1862, Kun,L.N.,et al, 1999
Subcotical Arteriosclerotic Encephalopathy (Binswangers Disease)
, Ghika,J. &Bogousslavsky, J., 1998
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Extrapyramidal side Effects of Antiemetics Presenting as Psychiatric Illness
Gen Hosp Psychiatry 14:192-195, Rodgers,C., 1992
Diffuse Lewy Body Disease and Progressive Dementia
Neurol 38:1520-1528, Burkhardt,C.R.,et al, 1988
A Creutzfeldt-Jakob Like Syndrome Due to Lithium Toxicity
JNNP 51:120-123, Smith,S.J.M.&Kocen,R.S., 1988
Neurologic Aspects of Boxing
Arch Neurol 44:453-459, Jordan,B.D., 1987
The Clinical Features & Natural History of the Steele-Richardson-Olszewski Syndrome (Prog Supranuclear Palsy)
Neurol 36:1005-1006, Maher,E.R.,et al, 1986
The Neuroleptic Malignant Syndrome:Agent and Host Interaction
Acta Psychiatr Scand 73:337-347, Shaley,A.&Munitz,H., 1986
Clin. Path. Conference
Multiple-System Atrophy with Parkinsonism, Case 28-13, NEJM 308:1406-1414983., , 1983
Glutamate Dehydrogenase Deficiency in Patients with Olivopontocerebellar Atrophy
Neurol 33:1322-1326, Duvoisin,R.C.,et al, 1983