Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
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
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Post-Stroke Movement Disorders; Report of 56 Patients
JNNP 75:1568-1574, Alarcon,F.,et al, 2004
Neurologic Aspects of Boxing
Arch Neurol 44:453-459, Jordan,B.D., 1987
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
MR Imaging of the Brain in Neurologic Wilson Disease
AJNR 40:178-183, Yu, X.-E.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
Eur J Neurol 25:41-58, Deutschlander, A.B.,et al, 2018
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,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
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy
JAMA Neurol 71:104-107, Erro, R.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Carbon Monoxide Poisoning
Adams & Victors Principles of Neurology Chp 40, pg 1138, Ropper, A.H.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Antipsychosis Drugs
Adams & Victors Principles of Neurology Chp 43, pg 1208, Ropper, A.H.,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
Parkinsonism is a Late, Not Rare, Feature of CADASIL
Stroke 44:1147-1149, Ragno, M.,et al, 2013
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Neuroimaging of Bilateral Caudate Infarction Manifesting as Parkinsonian Gait Disorder
Conn Med 71:149-150, Finelli,P.F., et al, 2007
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., 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
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Awakenings From Persistent Vegetative State: Report of Three Cases With Parkinsonism and Brain Stem Lesions on MRI
JNNP 74:1571-1573, Matsuda,W.,et al, 2003
Encephalitis lethargica syndrome:20 new cases and evidence of basal ganglia autoimmunity
Brain 127, 21-33, Dale, R.C., et al, 2003
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
HIV-Related Movement Disorders, Epidemiology, Pathogenesis and Management
CNS Drugs 16:663-668, Cardoso,F., 2002
Postanoxic Parkinsonism: Clinical, Radiologic, and Pathologic Correlation
Neurol 55:591-593, Li,J.Y. et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Clinical Correlates of Vascular Parkinsonism
Arch Neurol 56:98-102, Winikates,J.&Jancovic,J., 1999
Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999
Delayed Movement Disorders After Carbon Monoxide Poisoning
Eur Neurol 42:141-144, Choi,I.S. &Cheon,H.Y., 1999
Natural History & Survival of 14 Pts with Corticobasal Degeneration Confirmed as Postmortem Exam
JNNP 64:184-189, Wenning,G.K.,et al, 1998
Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
Arch Neurol 55:957-961, Kompoliti,K.,et al, 1998
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Unusual Clinical Presentations of Cortical-Basal Ganglionic Degeneration
Ann Neurol 40:893-900, Bergeron,C.,et al, 1996