Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
Neurol 105:e214381, Gomez,A.C.et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Recurrent Dysarthria and Ataxia in a Young Girl
JAMA Neurol 75:125-126, Romba, M.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 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
CNS Posttransplant Lymphoproliferative Disorder
Neurol 89:e32-e37, Kesari, N.K.,et al, 2017
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
Glial Fibrillary Acidic Protein Immunoglobulin G as Biomarker of Autoimmune Astrocytopathy: Analysis of 102 Patients
Ann Neurol 81:298-309, Flanagan, E.P.,et al, 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
Recognition and Management of Withdrawal Delirium
NEJM 371:2109-2113, Schuckit, M.A., 2014
The Acquired Metabolic Disorders of the Nervous System, Hashimoto Encephalopathy (Steroid Responsive Encephalopathy Syndrome)
Adams & Victors Principles of Neurology Chp 40, pg 1155, Ropper, A.H.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Lead
Adams & Victors Principles of Neurology Chp 43, pg 1220, Ropper, A.H.,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
Central Nervous System Neuronal Surface Antibody Associated Syndromes: Review and Guidelines for Recognition
JNNP 83:638-645, Zuliani,L.,et al, 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Primary Central Nervous System Post-Transplantation Lymphoproliferative Disorder
CANCER 16:863-870, Cavaliere, R.,et al, 2010
Neurosarcoidosis: A Study of 30 New Cases
JNNP 80:297-304, Joseph,F.G. &Scolding,N.J., 2009
Asymmetric Cerebellar Ataxia and Limbic Encephalitis as a Presenting Feature of Primary Sjogrens Syndrome
J Neurol 254:1609-1611, Collison,K. and Rees,J., 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
Clinical Manifestations of Sarin Nerve Gas Exposure
JAMA 290:659-662, Lee,E.C., 2003
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 2002
Neurological Complications of Coeliac Disease
Postgrad Med J 78:393-398, Tengah, D.S.N.A.,et al, 2002
Hashimoto's Encephalitis as a Differential Diagnosis of Creutzfeldt-Jakob Disease
JNNP 66:172-176, Seipelt,M.,et al, 1999
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 1999
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Clinicopath Conf
Granulomatous Angiitis of CNS, Case 33-1995, NEJM 333:1135-1143995., , 1995
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
Am J Dis Child 145:98-101, Carithers,H.A.&Margileth,A.M., 1991
Sarcoidosis of the Nervous System, A Clinical Approach
Arch Int Med 151:1317-1321, Sharma,Om.P.&Sharma,A.D., 1991
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Clinical & Magnetic Resonance Features of Primary Intracranial Arachnoid Cysts
Ann Neurol 21:342-348, Gandy,S.E.&Heier,L.A., 1987
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Herpes Zoster-Associated Encephalitis:Clinicopathologic Report of 12 Cases and Review of the Literature
Medicine 62:81-95, Jemsek,J.,et al, 1983
Central Nervous System Toxicity Associated With Metronidazole Therapy
Ann Int Med 93:59-60, Kusumi,R.K.,et al, 1980
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
Recurrent Rhombencephalitis Associatedwith Anti-GAD65 Antibody
Neurol 102:e208040, Alferes,A.R.,et al, 2024
Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids:A Potentially Overlooked Diagnosis
Ann Neurol 95:407-409, Tsibonakis,A.,et al, 2024
Anti-NMDA Receptor Encephalitis Presenting with Cerebellitis in a Pediatric Patient
Neurol 102:e209259, Moehlman,M. & Kornbluh,A.B., 2024
Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024