The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 25-Year-Old Woman With Eye Swelling and HEadache
Neurol 100:879-883, Hehir,A.,et al, 2023
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
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
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 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
Rapid Multifocal Neurologic Decline in an Immunocompromised Patient
JAMA Neurol 73:226-231, Kromm, J.A.,et al, 2016
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Adult-Onset Opsoclonus-Myoclonus Syndrome
Arch Neurol 69:1598-1607, Klaas, J.,et al, 2012
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Clinicopath Conf., Anti-MNDAR Antibody Mediated Paraneoplastic Limbic Encephalitis Associated With Ovarian Teratoma
NEJM 359:842-853, Case 26-2008, 2008
Anti-NMDA-Receptor Encephalitis: Case Series and Analysis of the Effects of Antibodies
Lancet Neurol 7:1091-1098, Dalmau,J.,et al, 2008
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Identification of an Oculomotor biomarker of Preclinical Huntington Disease
Neurol 67:485-487, Golding,C.V.P.,et al, 2006
Ocular Myasthenia: Diagnosis, Treatment and Pathogenesis
The Neurologist 12:231-239, Kusner,L.,et al, 2006
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997
Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996
Opsoclonus
Semin Neurol 16:21-26, Averbuch-Heller,L.&Remler,B., 1996
Clinicopath Conf
Ganglioneuroblastoma of Adrenal Gland, Opsoclonus-Myoclonus-Ataxia Syndrome, Paraneoplastic, Case 27, 199EJM 333:579-586,1995., 1995
Eye Movements in Parkinsonian Syndromes:Vidailhet
M. , et al, Neurol 35:420-42694., , 1994
Pure Midbrain Infarction:Clinical Syndromes, MRI, and Etiologic Patterns
Neurol 44:2032-2040, Bogousslavsky,J.,et al, 1994
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Acquired Pendular Nystagmus in Toluene Addiction
Neurol 41:282-285, Maas,E.F.,et al, 1991
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
The Characteristics and Mechanisms of Visual Disturbance Associated with Anticonvulsant Therapy
Neurol 40:791-796, Remler,B.F.,et al, 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Opsoclonus in Organophosphate Poisoning
Arch Neurol 46:704-705, Pullicino,P.&Aquilina,J., 1989
Tardive Oculogyric Crises
Neurol 39:1434-1437, FitzGerald,P.M.&Jankovic,J., 1989
Oculogyric Crisis after Metoclopramide Therapy
Optometry and Vision Science 66:179-180, Edward,M.,et al, 1989
The Clinical Features & Natural History of the Steele-Richardson-Olszewski Syndrome (Prog Supranuclear Palsy)
Neurol 36:1005-1006, Maher,E.R.,et al, 1986
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
Arch Neurol 43:677-680, Mito,T.,et al, 1986
Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
Arch Neurol 43:1050-1053, Farris,B.K.,et al, 1986
Amitriptyline:Another Cause of Internuclear Ophthalmoplegia with Coma, Letter
Ann Neurol 12:62, Hotson,J.R.,et al, 1982
Phenytoin-induced Ophthalmoplegia
Neurol 26:1031, Spector,R.H.,et al, 1976