Clinicopathologic Conference, Probable Acute Leptospirosis
NEJM 377:268-278, Case 22-2017, 2017
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
Neurol 41:1491-1496, Arikawa,E.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
Clinical Manifestations and Diagnosis of Nocardiosis
UptoDate May, Spelman, D., 2019
A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018
A 22-year-old Man with Diplopia
Neurol 89:e45-e49, Meyer, C.,et al, 2017
Zika Virus Associated with Microcephaly
NEJM 374: DOI:10.1056/NEJMoa1600651, Mlakar, J.,et al, 2016
Clinicopathologic Conference, Borrelia Miyamotoi Infection and Possible Borrelia Burgdorferi Infection
NEJM 373:408-475, Case 24-2015, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Clinical Findings and Diagnosis in Human Granulocytic Anaplasmosis: A Case Series from Massachusetts
Mayo Clin Proc 87:233-239, Weil, A.A.,et al, 2012
Progressive Multifocal Leukoencephalopathy in Individuals with Minimal or Occult Immunosuppression
JNNP 81:247-254, Gheuens,S., et al, 2010
The Patient Has the Diagnosis
Lancet 378:1436, Jubany,L.I.,et al, 2010
Pediatric Encephalitis: What Is the Role of Mycoplasma Pneumoniae
Pediatrics 120:305-313, Christie,L.J., et al, 2007
Intramedullary Cervical Tuberculoma
Spinal Cord 44:809-812, Lin,J.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Clinicopath Conf, Human Granulocytic Ehrlichiosis
NEJM 352:1358-1364, Case 10-2005, 2005
Fatal Myositis Due to the Microsporidian Brachiola algerae, a Mosquito Pathogen
NEJM 351:42-47, Coyle,C.M.,et al, 2004
Kennedy Disease
Arch Neurol 60:893-894, Paparounas,K.,et al, 2003
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 2002
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Clinicopath Conf
Arteritis, Unclassified, with Giant-Cell Reaction & Multiple Infarcts of the Brain & Neuropathy, Cas, 5-199532:452-459,1995., 1995
Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
Lyme Neuroborreliosis
Ann Neurol 37:691-702, Garcia-Monco,J.C.&Benach,J.L., 1995
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
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
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
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
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Direct Diagnosis of Carriers of Duchenne & Becker Muscular Dystrophy by Amplification of Lymphocyte RNA
Roberts. R. G. , et al, Lancet 336:1523-1526., , 1990
Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989