Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
Adams & Victors Principles of Neurology, Chp 39, pg 1099, Ropper, A.H.,et al, 2014
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Cortical-Basal Ganglionic Degeneration
Neurol 40:1203-1212, Riley,D.E.,et al, 1990
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
Blepharospasm-oromandibular Dystonia Dyndrome (Brueghel's syndrome) :A Variant of Adult-onset Torsion Dystonia
JNNP 39:1204, Marsden,C.D., 1976
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
Ann Neurol 92:201-212, Lindgren, U.,et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Facial Numbness, Dysarthria, Muscle Atrophy, and Weakness in a Young Patient
JAMA Neurol 78:1273-1274, Liu, Y.,et al, 2021
IgLON5-mediated neurodegeneration is a differential diagnosis of CNS Whipple disease
Neurol 90:1113-1115, Morales-Briceno, H.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Wilson Disease
NIDDK Oct2018, , 2018
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
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, 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, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, 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
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
Transverse Myelitis
NEJM 363:564-572, Frohman,E.M. &Wingerchuk,D.M., 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Inclusion Body Myositis
JNNP 60:251-255, Garlepp,M.J.&Mastaglia,F.L., 1996
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
Dysphagia After Botulinum Toxin Injections for Spasmodic Torticolli:Clinical and Radiologic Findings
Neurol 42:1307-1310, Comella,C.L.,et al, 1992
Botulinum Toxin Treatment of Tremors
Neurol 41:1185-1188, Jankovic,J.&Schwartz,K., 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Clinical Use of Botulinum Toxin
National Institutes of Health Consensus Develop Conf Stmt, Nov 12-14, 1990, Arch Neurol 48:1294-1298, 199, 1991
Clinical Correlates of Response to Botulinum Toxin Injections
Arch Neurol 48:1253-1256, Jankovic,J.&Schwartz,K.S., 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Botulinum Toxin Injections for Cervical Dystonia
Neurol 40:277-280, Jankovic,J.&Schwartz,P.A., 1990
Botulinum Toxin Treatment in Spasmodic Torticollis
JNNP 53:640-643, Blacke,J.D.&Lees,A.J., 1990
Swallowing Function in Patients with Spasmodic Torticollis
Neurol 40:1443-1445, Riski,J.E.,et al, 1990
Clinicopath Conf
Subacute Cerebellar Degeneration, Cystadenocarcinoma of Ovary, (with Paraneoplastic Syndrome) , Case, 34-1EJM 321:524-535,1989., 1989
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
Dysarthria-Clumsy Hand Syndrome Produced by Capsular Infarct
Ann Neurol 6:263-265, Spertell,R.B.,et al, 1979
Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975
Acute Bulbar Dysfunction & Hyperthyroidism
Am J Med 56:464, Kammer,G.M.,et al, 1974