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
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
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
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
Arch Neurol 55:957-961, Kompoliti,K.,et al, 1998
Comparison of Extrapyramidal Features in 31 Path Cases of Diffuse Lewy Body Disease & 34 Cases of Parkinson's
Neurol 48:376-380, Louis,E.D.,et al, 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference, LGI1 autoimmune encephalitis
NEJM 382:1943-1950, Case 15-2020, 2020
Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,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
Deep-Brain Stimulation - Entering the Era of Human Neural-Network Modulation
NEJM 371:1369-1373, Okun, M.S., 2014
Long-Term Improvement of Musicians Dystonia after Stereotactic Ventro-Oral Thalamotomy
Ann Neurol 74:648-654,627, Horisawa, S.,et al, 2013
Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
JNNP 83:159-163, Guettard,E.,et al, 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
Deep Brain Stimulation
JAMA 305:732, Pluta,R.,et al, 2011
Rapidly Progressive Corticobasal Degeneration Syndrome
Case Rep Neurol 3:185-190, Herrero Valverde, A.,et al, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Long-term Outcome of Bilateal Pallidal Deep Brain Stimulation for Primary Cervical Dystonia
Neurol 68:457-459, Hung,S.W.,et al, 2007