A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 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
Paraneoplastic Cerebellar Degeneration with Anti-Yo Antibodies - A Review
Ann Clin Trans Neurol 3:655-663, Venkatraman,A. & Opal,P., 2016
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
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
First Symptom in Sporadic Creutzfeldt-Jakob Disease
Neurol 66:286-287, Rabinovici,G.D.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
BMJ 316:582-586, 5641998., Crimlisk,H.L.,et al, 1998
Is There a Gulf War Syndrome? Searching for Syndromes by Factor Analysis of Symptoms
JAMA 227:215-222, 2591997., Haley,R.W.,et al, 1997
Self-Reported Exposure to Neurotoxic Chemical Combinations in the Gulf War:A Cross-Sectional Epidemiologic Study
JAMA 227:231-237, 2591997., Haley,R.W.&Kurt,T.L., 1997
BSE Linked to New Variant of CJD in Humans
BMJ 312:795, 791, 843, 85496., , 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Central Nervous System Involvement in the Eosinophilia-Myalagia Syndrome
Arch Neurol 49:1082-1085, Lynn,J.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Metachromatic Leukodystrophy Manifesting as a Schizophrenic Disorder:Computed Tomographic Correlation
Ann Neurol 18:94-95, Finelli,P.F., 1985
Progressive Rubella Panencephalitis
Arch Neurol 33:722, Wolinsky,J.S.,et al, 1976
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019