Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Paroxysmal Symptoms as the First Manifestations of Multiple Sclerosis
JNNP 43:296-304, Twomey,J.A.,et al, 1980
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopathologic Conference, Myasthenia Gravis
NEJM 391:1441-1450, Case 32-2024, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Manganese Accumulation in the Brain
NEJM 389:1320, Sherman,S.V., 2023
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Recurrent Dysarthria and Ataxia in a Young Girl
JAMA Neurol 75:125-126, Romba, M.,et al, 2018
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1096, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
Adams & Victors Principles of Neurology, Chp 39, pg 1099, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,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 Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Pontine Warning Syndrome
Arch Neurol 65:1375-1377, Saposnik, G.,et al, 2008
Clinicopath Conf., Severe Microangiopathy of Diabetic Vasculopathy with Multiple Cerebral Infarcts
NEJM 357:164-173, Case Study 21-2007, 2007
Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
Leukemia 21:238-247, Dufourg, M.N.,et al, 2007
Pallidal Deep-Brain Stimulation in Primary Generalized or Segmental Dystonia
NEJM 355:1978-1990, Kupsch,A.,et al, 2006
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Clinicopath Conf
Granulomatous Angiitis of CNS, Case 33-1995, NEJM 333:1135-1143995., , 1995
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Delayed Cyanide Induced Dystonia
JNNP 55:198-199, Valenzuela,R.,et al, 1992
Infarction in the Anterior Rostral Cerebellum (the Territory of the Lateral Branch of the Superior Cerebellar Artery)
Neurol 41:253-258, Amarenco,P.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987
Familial Periodic Ataxia
Arch Neurol 36:568-569, Donat,J.R.,et al, 1979
Hereditary Paroxysmal Ataxia:Response to Acetazolamide
Neurol 28:1259-1264, Griggs,R.C.,et al, 1978
Blepharospasm-oromandibular Dystonia Dyndrome (Brueghel's syndrome) :A Variant of Adult-onset Torsion Dystonia
JNNP 39:1204, Marsden,C.D., 1976
Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975
Case Records of MGH-Polycythemia
Carotid Occlusion & Cerebral Infarcts, NEJM 291:96674., , 1974
Acute Bulbar Dysfunction & Hyperthyroidism
Am J Med 56:464, Kammer,G.M.,et al, 1974
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968