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
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Diagnostic Guidelines in Central Nervous System Whipple's Disease
Ann Neurol 40:561-568, Louis,E.D.,et al, 1996
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Alternating Hemiplegia of Childhood
J Pediatr 122:673-679, Bourgeois,M.,et al, 1993
Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
Arch Neurol 36:95-99, Neil,J.F.,et al, 1979
Whipple's Disease with Predominating Neuro-ophthalmic Manifestations
Ann Neurol 1:247-252, Finelli,P.F.,et al, 1977
Neurologic Complications After Treatment for Whipple's Disease:A Report of Four Patients
Medicine 55:467, Knox,D.L.,et al, 1976
Whipple's Disease & Papilledema
Arch Int Med 123:74, Switz,D.M.,et al, 1969
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Ipsiversive Eye Deviation and Epileptic Nystagmus
Neurol 40:662-665, Tusa,R.J.,et al, 1990
Vertical and Horizontal Epileptic Gaze Deviation and Nystagmus
Neurol 39:1391-1393, Kaplan,P.W.&Lesser,R.P., 1989
Nontraumatic Frontal Lobe Hemorrhages:Clinical-computed Tomographic Correlations
Neuroradiology 30:500-505, Weisberg,L.A.&Stazio,A., 1988
Epileptic Gaze Deviation & Nystagmus
Neurol 35:1518-1521, Thurston,S.E.,et al, 1985
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
Neurosyphilis Presenting as Syndrome of Limbic Encephalitis Mimicking Herpes Simplex Virus Neuro-Infection Diagnosed Using CXCL13 Point-of-Care Assay-Case Report
Brain Sci 13:503, Maresova,E.,et al, 2023
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
A 23-Year-Old Man with Headaches, Confusion, and Lower Extremity Weakness
Neurol 92:863-867, Patel, N.M.,et al, 2019
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Recognizing Autoimmune-Mediated Encephalitis in the Differential Diagnosis of Limbic Disorders
AJNR 36:2196-2205, da Rocha, A.J.,et al, 2015
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Neurosyphilis
Adams & Victors Principles of Neurology, Chp 32, pg 723, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Carcinomatous Meningitis
Adams & Victors Principles of Neurology, Chp 31, pg 662, Ropper, A.H.,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
Horners Syndrome-Not To Be Sneezed At
Lancet 375:776, Bazari,F.,et al, 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Clinicopath Conf, Neurosarcoidosis
NEJM 360:802-809, Case 6-2009, 2009
Spectrum of Neurological Syndromes Associated with Glutamic Acid Decarboxylase Antibodes: Diagnostic Clues for this Association
Brain 131:2553-2563, Saiz,A., et al, 2008
Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
Acta Neurol Taiwan 17:177-183, Shen, F.,et al, 2008
Managing Acute Organophosphorus Pesticide Poisoning
BMJ 334:629-634, Roberts,D.M.&Aaron,C.K., 2007
Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
Leukemia 21:238-247, Dufourg, M.N.,et al, 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Systematic Review of Misdiagnosis of Conversion Symptoms and "Hysteria"
BMJ 331:989-991,978, Stone,J.,et al, 2005
Neurologic Adverse Events Associated With Smallpox Vaccination in the United States, 2002-2004
JAMA 294:2744-2750, Sejvar,J.J.,et al, 2005
Brain Metastases
The Neurologist 10:31-46, Klos,K.J.&O'Neill,B.P., 2004
Neurosyphilis with Complex Partial Status Epilepticus and Mesiotemporal MRI Abnormalities Mimicking herpes Simplex Encephalitis
JNNP 75:833, Marano,E.,et al, 2004
Reversible Corpus Callosum Lesion in Legionnaires Disease
JNNP 75:651-654, Morgan, J.C.,et al, 2004
Recent Developments in Neurology
BMJ 324:656-660, Wiebe,S.,&Nicolle,M.W., 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Herpes Simplex Encephalitis (HSE) and the Immunocompromised: A Clinical and Autopsy Study of HSE in the Settings of Cancer and Human Immunodeficiency Virus-Type 1 Infection
Hum Pathol 29:215-222, Schiff,D. &Rosenblum,M.K., 1998