A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Neurological and Neuropsychiatric Spectrum of Wilson's Disease:A Prospective Study of 45 Cases
J Neurol 238:281-287, Oder,W.,et al, 1991
Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,et al, 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Recurrent Dysarthria and Ataxia in a Young Girl
JAMA Neurol 75:125-126, Romba, M.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
A 57-year-old Man with Subacute Gait Difficulty and Hand Tremor
Neurol 87:e110-e113, Paliwal, V.K.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
A Case of Early-Onset Rapidly Progressive Dementia
JAMA Neurol 71:1445-1449, Cachia, D.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014
Multimodal Imaging of Reversible Cerebral Vasoconstriction Syndrome: A Series of 6 Cases
AJNR 33:1403-1410, Marder, C.P.,et al, 2012
A 75-Year-Old Woman with Progressive Right-Hand Tremor and Inability to Use Her Right Side
Neurol 73:1399-1405, Kertesz,A.,et al, 2009
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
Clinical and Neuroradiologic Features of Acute Disseminated Encephalomyelitis in Children
Neurol 56:1308-1312,1257, Hynson,J.L.,et al, 2001
A Six-Year-Old Girl with Tick paralysis
NEJM 342:90-94, Felz,M.W.,et al, 2000
Vertigo and Gait Ataxia Without Usual Signs of Lateral Medullary Infarction: A Clinical Variant Related to Rostral-dorsolateral Lesions
Cerebrovasc Dis 10:471-474, Kim,J.S., 2000
Hashimoto's Encephalitis as a Differential Diagnosis of Creutzfeldt-Jakob Disease
JNNP 66:172-176, Seipelt,M.,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
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Cerebral Manifestation of Erdheim-Chester Disease:Clinical and Radiologic Findings
Neurol 49:1702-1705, Bohlega,S.,et al, 1997
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Clinical Insights Into CASPR1 and CASPR1/Contactin1 Com-lex Autoimmune Nodopathies
Neurol 106:e214403, Paramasivan,N.K.,et al, 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Neuroimaging Spectrum of Erdheim-Chester Disease:An Image-Based Review
AJNR 46:1300-1308, Rai,P.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022