Clinicopath Conf., Giant-Cell Arteritis
NEJM 349:170-180, Case 21-2003, 2003
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Orofacial Dyskinesia in a Young Man
JAMA Neurol 76:1517-1518, Tian, X.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
Hypophosphatemia-Induced Neuropathy: Clinical and Electrophysiologic Findings
Muscle Nerve 21:650-652, Siddiqui,M.F. &Bertorini,T.E., 1998
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Progressive Cranial Neuropathy
JAMA Neurol 80:1375-1376, Buchberger,D.S.,et al, 2023
Facial Numbness, Dysarthria, Muscle Atrophy, and Weakness in a Young Patient
JAMA Neurol 78:1273-1274, Liu, Y.,et al, 2021
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
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
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Botulism
Adams & Victors Principles of Neurology Chp 43, pg 1218, Ropper, A.H.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Mercury
Adams & Victors Principles of Neurology Chp 43, pg 1223, 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
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
Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
Neurol 66:1672-1678, Arata,H.,et al, 2006
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Clinicopath Conf
Botulism, Case 22-1997, NEJM 337:184-190997., , 1997
Isolated Vitamin E Deficiency
Muscle & Nerve 19:1161-1165996., Jackson,C.E.,et al, 1996
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995
Clinicopath Conf
Progressive Muscular Atrophy, Case 36-1995, NEJM 333:1406-1412995., , 1995
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
Ann Neurol 22:84-87, Yokota,T.,et al, 1987
Giant Axonal Neuropathy:Central Abnormalities Demonstrated by Evoked Potentials
Ann Neurol 19:394-396, Majnemer,A.,et al, 1986
Improved Neurologic Function After Long-Term Correction of Vitamin E Deficiency in Children with Chronic Cholestasis
NEJM 313:1580-1586, Sokol,R.J.,et al, 1985
Spinocerebellar Degeneration Secondary to Chronic Intestinal Malabsorption:A Vitamin E Deficiency Syndrome
Ann Neurol 12:419-424, Harding,A.E.,et al, 1982
Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978
Progressive Dialysis Encephalopathy
Ann Neurol 4:199-204, Lederman,R.J.,et al, 1978
Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977