Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Practice Guideline Update Summary: Botulinum Neurotoxin for the Treatment of Blepharospasm, Cervical Dystonia, Adult Spasticity, and Headache
Neurol 86:1818-1826, Simpson, D.M.,et al, 2016
Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1096, 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
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,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
Acute Dystonia Induced by Drug Treatment
BMJ 319:623-626, vanHarten,P.N.,et al, 1999
Tardive Dyskinesia:Diagnosis, Pathogenesis, and Management
The Neurologist 4:180-187, Trugman,J.M., 1998
Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
Neurol 46:68-74, Scott,B.L.,et al, 1996
Post-Traumatic Movement Disorders in Survivors of Severe Head Injury
Neurol 47:1488-1492, Krauss,J.K.,et al, 1996
Dystonia after Head Trauma
Neurol 44:1374-1378, Lee,M.S.,et al, 1994
Post-Traumatic Movement Disorders:Central and Peripheral Mechanisms
Neurol 44:2006-2014, Jankovic,J., 1994
Pseudochoreoatheotosis:Movement Associated with Loss of Proprioception
Arch Neurol 51:1103-1109, Sharp,F.R.,et al, 1994
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
Post-Traumatic Torticollis
Neurol 39:1642-1643, Isaac,K.&Cohen,J.A., 1989
Hemidystonia:A Report of 22 Patients & a Review of the Literature
JNNP 48:650-657, Pettigrew,L.C.&Jankovic,J., 1985
Pure Hemidystonia with Basal Ganglion Abnormalities on Positron Emission Tomography
Ann Neurol 15:228-233, Perlmutter,J.S.,et al, 1984
Delayed-onset Dystonia in Patients with"Static"Encephalopathy
JNNP 43:789-797, Burke,R.E.,et al, 1980
Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968