Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Diagnostic Guidelines in Central Nervous System Whipple's Disease
Ann Neurol 40:561-568, Louis,E.D.,et al, 1996
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
A 71-Year-Old Man with Horizontal Gaze Palsy, Anarthria, and Quadriparesis
Neurol 96:1146-1150, Cheema, I.,et al, 2021
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
Clinicopathologic Conference, Human Herpesvirus 6-Related Meningoencephalitis
NEJM 378:659-669, Case 5-2018, 2018
A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018
Clinicopathologic Conference, Granulomatous Amebic Encephalitis and Sarcoidosis (Inactive)
NEJM 376:368-379, Case 3-2017, 2017
Clinicopathologic Conference, Probable Acute Leptospirosis
NEJM 377:268-278, Case 22-2017, 2017
Zika Virus Associated with Microcephaly
NEJM 374: DOI:10.1056/NEJMoa1600651, Mlakar, J.,et al, 2016
A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
NEJM 373:154-162, Hoffmann, B.,et al, 2015
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
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
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
Clinicopath Conf,Encephalomyelitis Due to West Nile Virus and CLL, Case 22-2005
NEJM 353:287-295, Hollande,H.,et al, 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
Out of Africa, Trypanosomiasis
NEJM 347:749-753, Sahlas,D.J.,et al, 2002
West Nile Virus Encephalitis
NEJM 347:1225-1226, Peterson,L.R.,et al, 2002
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
Neurol 50:760-763, Young,P.,et al, 1998
Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Human T-Cell Lymphotrophic Virus Type II-Associated Myelopathy:Clinical and Immunologic Profiles
Ann Neurol 40:714-723, Lenky,T.J.,et al, 1996
Clinicopath Conf
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Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
Lyme Neuroborreliosis
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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
Sequences Specific for Enterovirus Detected in Spinal Cord from Patients with Motor Neurone Disease
BMJ 308:1541-1543, Woodall,C.J.,et al, 1994
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
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
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990