Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
Neurol 101:979-980, Li,X.,et al, 2023
Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A 42-Year-Old Woman with Mysterious Monocytic Meningitis
Neurol 97:449-454, Nothem, M.E., et al, 2021
A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
Neurol 97:342-347, Zahid, A.,et al, 2021
Balance, Falls, and Hearing Loss: Is It Time for a Paradigm Shift?
JAMA Otolaryngol Head Neck Surg doi:10.1001/JAMAoto.2020.0415, Lubetzky, A.V., 2020
Kelch-Like Protein 11 Antibodies in Seminoma-Associated Paraneoplastic Encephalitis
NEJM 381:47-54, Mandel-Brehm, C.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Neurological Manifestations Among US Government Personnel Reporting Directional Audible and Sensory Phenomena in Havana, Cuba
JAMA 319:1125-1133, 1098, 1079, Swanson, R.L.,et al, 2018
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
50 Year Old Man with Cloudy Vision, Hearing Loss, and Unsteadiness
NEJM 374:2586-2593, Eliott, D.,et al, 2016
Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016
Limbic Encephalitis as the Presenting Feature of Sj�gren Syndrome
Neurol Clin Pract 3:165-167, Finelli, P. & Inoa, V., 2013
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
A Rare Cause of Gait Ataxia
Lancet 378:1274, Rous, C.,et al, 2011
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Long-Term Outcomes Among Adult Survivors of Childhood Central Nervous System Malignancies in the Childhood Cancer Survivor Study
J Natl Cancer Inst 101:946-958, Armstrong,G.T.,et al, 2009
Neurosarcoidosis: A Treatable Cause of Vestibular Dysfunction
Lancet 369:878, Agari,D.,et al, 2007
Superficial Siderosis
Arch Neurol 64:491-496, Kumar,J, 2007
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Superficial Siderosis of the Central Nervous System,A Late Complication of Cerebellar Tumors
Neurol 52:163-169, Anderson,N.E.,et al, 1999
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Acute Vestibular Syndrome
NEJM 339:680-685, Hotson,J.R.&Baloh,R.W., 1998
Clinicopath Conf
Wegener's Granulomatosis Involving Sinuses, Skull, and Cranial Nerves, Case 28-1998, NEJM 339:755-76, , 199, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Ocular Findings in Ramsay Hunt Syndrome
J Neuro-Ophthalmol 17:199-201, Mansour,A.M.&Bailey,B.J., 1997
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Neurotox of Antimicrob & Antimalarial Agents
In Intox of Nervous System, Part II, Handbk Clin Neurol, Elsevier Science 21 (65) :471., Moorhouse,D.F.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Management of Acoustic Neuroma
BMJ 311:1141-1144, Wright,A.&Bradford,R., 1995
Clinicopath Conf
Primary Malignant Lymphoma of CNS, Diffuse, Large-Cell]B-Cell Type, Case 36-1994, NEJM 331:861-8684., , 1994
The Pathogenesis of Superficial Siderosis of the Central Nervous System
Ann Neurol 34:646-653, 635-6361993., Koeppen,A.H.,et al, 1993
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Auditory Vestibular Dysfunction after High-Impact Aerobics
NEJM 324:927-928, Cantrell,H., 1991
Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
Stroke 22:933-937, Gordon,D.L.,et al, 1991
Acute Triphenyltin Intoxication:A Case Report
JNNP 53:356-357, Wu,RM.,et al, 1990