The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Tonic Pupils with Acute Ophthalmoplegic Polyneuritis
Ann Neurol 2:393, Keane,J.R., 1977
Neurologic Complications After Treatment for Whipple's Disease:A Report of Four Patients
Medicine 55:467, Knox,D.L.,et al, 1976
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023
Neurologic Complications of Babesiosis, United States, 2011-2021
Emerg Inf Dis 29:1127-1135, Locke,S.,et al, 2023
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
A Dizzy Architect
Neurol 98:543-549, Scutelnic, A.,et al, 2022
A 48-Year-Old Woman Presenting with Vertigo, Ptosis, and Red Eyes
Neurol 98:678-683, Kim, K.T.,et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Palatal Myoclonus, Abnormal Eye Movements, and Olivary Hypertrophy in GAD65-Related Disorder
Neurol 94:273-275, Macaron, G.,et al, 2020
Progressive Ataxia and Palatal Tremor
Neurol 94:e1445-e1447, Pradeep, S.,et al, 2020
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Opsoclonus in Anti-Ma2 Brain-Stem Encephalitis
NEJM 383:e84, Sacks, C.A.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Glutamate Receptor D2 Serum Antibodies in Pediatric Opsoclonus Myoclonus Ataxia Syndrome
Neurol 91:e714-e723, Berridge, G.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 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
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique "Heart or V" Appearance Sign:Case Report and Review of the Literature
Front Neurol soi.10.3389/fneur.2017.00376,Aug, Zhou,C.,et al, 2017
Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016
Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Clinicopathologic Conference, Parainfectious Encephalomyelitis Associated with Systemic Mycoplasma Infection
NEJM 370:2427-2438, Case 19-2012, 2014
A Case of Early-Onset Rapidly Progressive Dementia
JAMA Neurol 71:1445-1449, Cachia, D.,et al, 2014
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
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Encephalitis
Adams & Victors Principles of Neurology, Chp 33, pg 748, Ropper, A.H.,et al, 2014