Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Sensory Ganglionopathy
NEJM 383:1657-1662, Amato, A.A. & Ropper, A.H., 2020
Testing the Reflexes
BMJ 366:l4830, Lees, A.J. & Hurwitz, B., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
A 15-month-old boy with Progressive Lethargy and Spasticity
Neurol 89:e135-e139, Zhang, R.,et al, 2017
Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Serotonin Syndrome
BMJ 348:g1626, Buckley, N.A.,et al, 2014
Paraparetic Guillain-Barre Syndrome
Neurol 82:1984-1989, Van Den Berg, B.,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
Diagnosis of Lambert-Eaton Myasthenic Syndrome in Children
Neurol 80:e220-e222, Morgan-Followell,B.& de los Reyes,E., 2013
Guillain-Barre Syndrome
NEJM 366:2294-2304, Yuki, N. & Hartung, H.P., 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Chronic Inflammatory Demyelinating Polyneuropathy: Etiology, Clinical Features, and Diagnosis
UpToDate, Sept, Lewis, R., 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Narcolepsy With Cataplexy
Lancet 369:499-511, Dauvilliers,Y.,et al, 2007
A 46-Year-Old Woman With Severe Weakness Following Acute Respiratory Distress Syndrome
Neurol 68:1529-1535, Waclawik,A.J.,et al, 2007
Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
Neurol 66:1672-1678, Arata,H.,et al, 2006
The Serotonin Syndrome
NEMJ 352:1112-20, Boyer, E.W. & Shannon, M., 2005
Serotonin Sydrome
Medicine 79:201-209, Mason,P.J. et al, 2000
Clinicopath Conf
Botulism, Case 22-1997, NEJM 337:184-190997., , 1997
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Chiari I Malformations:Clinical and Radiologic Reappraisal
Radiology 183:347-353, Elster,A.D.&Chen,M.Y.M., 1992
The Guillain-Barre Syndrome
NEJM 326:1130-1136, Ropper,A.H., 1992
Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987