Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
Adams & Victors Principles of Neurology, Chp 39, pg 1099, Ropper, A.H.,et al, 2014
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Case Records of MGH-Polycythemia
Carotid Occlusion & Cerebral Infarcts, NEJM 291:96674., , 1974
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 71-Year-Old Man Presenting with Acute Onset Dysarthria and Dysphagia
Neurol 96:180-184, Spagni, G.,et al, 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
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 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
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
Neurol 82:49-56, Graff-Radford, J.,et al, 2014
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Dialysis Encephalopathy (Dialysis Dementia)
Adams & Victors Principles of Neurology Chp 40, pg 1146, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Progressive Rubella Panencephalitis
Adams & Victors Principles of Neurology, Chp 33, pg 766, Ropper, A.H.,et al, 2014
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
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
Brain Abnormalities as an Initial Manifestation of Neuromyelitis Optica Spectrum Disorder
MSJ 17:1107-1112, Kim, W.,et al, 2013
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 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
Does This Patient Have Myasthenia Gravis?
JAMA 293:1906-1914, Scherer,K.,et al, 2005
Reversible Corpus Callosum Lesion in Legionnaires Disease
JNNP 75:651-654, Morgan, J.C.,et al, 2004
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 1999
Clinicopath Conf
Botulism, Case 22-1997, NEJM 337:184-190997., , 1997
Neuroimaging Findings in Patients on Immunosuppressive Therapy:Experience with Tacrolimus Toxicity
AJR 166:683-688, Appignani,B.A.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Clinicopath Conf
Granulomatous Angiitis of CNS, Case 33-1995, NEJM 333:1135-1143995., , 1995
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Progressive Rubella Panencephalitis
In Handbk of Clin Neurol, Vinken & Bruyn, Ed, N Holland Publ Co, 56:405-416, Wolinsky,J.S., 1990
Familial Idiopathic Striopallidodentate Calcifications
Neurol 39:381-385, Ellie,E.,et al, 1989
Giant Axonal Neuropathy:Central Abnormalities Demonstrated by Evoked Potentials
Ann Neurol 19:394-396, Majnemer,A.,et al, 1986
Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
Dialysis Encephalopathy, Clinical, Electroencephalographic & Interventional Aspects
Medicine 62:129-141, O'Hare,J.A., 1983
Paroxysmal Symptoms as the First Manifestations of Multiple Sclerosis
JNNP 43:296-304, Twomey,J.A.,et al, 1980
Progressive Dialysis Encephalopathy
Ann Neurol 4:199-204, Lederman,R.J.,et al, 1978
Familial Idiopathic Cerebral Calcifications
et al. , JNNP 40:280977., Boller,F., 1977
Pediatric Neurology
Psych Annals 2:1, , 1972