Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 59-Year-Old Woman Presenting with Diplopia, Dysarthria, Right-sided Weakness, and Encephalopathy
Neurol 97:e859-e864, Manzano, G.S.,et al, 2021
Facial Numbness, Dysarthria, Muscle Atrophy, and Weakness in a Young Patient
JAMA Neurol 78:1273-1274, Liu, Y.,et al, 2021
Progressive Ataxia and Palatal Tremor
Neurol 94:e1445-e1447, Pradeep, S.,et al, 2020
Clinical features, prognostic factors, and antibody effects in anti-mGluR1 encephalitis
Neurol 95:e3012-e3025, Spatola, M.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,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 27-year-old man with Acute-Onset Ataxia
Neurol 88:e207-e211, Risco, J. & Weiss, M., 2017
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Uremic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1145, 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
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, 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
Degenerative Diseases of the Nervous System, Cerebellar Degeneration
Adams & Victors Principles of Neurology, Chp 39, pg 1105, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Limbic Encephalitis as the Presenting Feature of Sj�gren Syndrome
Neurol Clin Pract 3:165-167, Finelli, P. & Inoa, V., 2013
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Clinicopath Conf., Severe Microangiopathy of Diabetic Vasculopathy with Multiple Cerebral Infarcts
NEJM 357:164-173, Case Study 21-2007, 2007
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
Reversible Corpus Callosum Lesion in Legionnaires Disease
JNNP 75:651-654, Morgan, J.C.,et al, 2004
Clinicopath Conf, Primary Lymphoma of CNS
NEJM 346:1009-1015, Case 10-2002, 2002
Bilateral Thalamic Stimulation for the Treatment of Essential Tremor
Neurol 53:1447-1450, Pahwa,R.,et al, 1999
Paraneoplastic Cerebellar Degeneration
Arch Int Med 157:1258-1262, Bolla,L.&Palmer,R.M., 1997
Neuroimaging Findings in Patients on Immunosuppressive Therapy:Experience with Tacrolimus Toxicity
AJR 166:683-688, Appignani,B.A.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Isolated Vitamin E Deficiency
Muscle & Nerve 19:1161-1165996., Jackson,C.E.,et al, 1996
Brainstem Tumors in Patients with Neurofibromatosis Type 1:A Distinct Clinical Entity
Neurol 45:1897-1902, Molloy,P.T.,et al, 1995
Initial and Follow-up Brain MRI Findings and Correlation with the Clinical Course in Wilson's Disease
Neurol 44:1064-1068, Roh,J.K.,et al, 1994
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
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
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 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
Clinical Anatomic Study of Pure Dysarthria
Stroke 22:809-812, Ichikawa,K.&Kageyama,Y., 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991