Investigating the Hoarse Voice
BMJ 337:1165-1168, Pretorius,P.M. &Milford,C.A., 2008
Hidden Metastatic Lung Tumour Diagnosed by AI
Lancet 403:1299, Muroya,D.,et al, 2024
Clinicopathologic Conference, Probable Acute Leptospirosis
NEJM 377:268-278, Case 22-2017, 2017
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Mycoplasma Pneumoniae Infection: Neurologic Complications
www.MedLink.com, Oct, Greenlee, J.E., 2013
When A Brain Lesion Necessitates Chest CT
Conn Med 75:143-146, Finelli,P.F., 2011
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Spinal Cord Sarcoidosis: Clinical and Laboratory Profile and Outcome of 31 Patients in a Case-Control Study
Medicine 89:133-140, Cohen-Aubart,F.,et al, 2010
Diagnostic Role of Target Lesion on Diffusion-WEighted Imaging, A Case of Cerebral Aspergillosis and Review of the Literature
Neurologist 16:364-367, Finelli,P.F.,et al, 2010
Multiple Ring-Enhancing Lesions of the Brain
J Postgrad Med 56:307-316, Garg, R.K. & Sinha, M.K., 2010
Neurosarcoidosis: A Study of 30 New Cases
JNNP 80:297-304, Joseph,F.G. &Scolding,N.J., 2009
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Pediatric Encephalitis: What Is the Role of Mycoplasma Pneumoniae
Pediatrics 120:305-313, Christie,L.J., et al, 2007
Spinal Epidural Abscess
NEJM 355:2012-2020, Darouiche,R.O., 2006
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 2002
Clinicopath Conf
Cat-Scratch Disease, with Encephalopathy, Case 22-1992, NEJM 326:1480-148992., , 1992
Spinal Cord Compression from Epidural Metastases
NEJM 327:614-619, Byrne,T.N., 1992
The Sit-up Test:An Alternative Clinical Test for Evaluating Pediatric Torticollis
Pediatrics 90:612-615, Caputo,A.R.,et al, 1992
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992
Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991
The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
Neurol 41:1491-1496, Arikawa,E.,et al, 1991
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991
Direct Diagnosis of Carriers of Duchenne & Becker Muscular Dystrophy by Amplification of Lymphocyte RNA
Roberts. R. G. , et al, Lancet 336:1523-1526., , 1990
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988