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Showing articles 0 to 46 of 46

Filter Applied: polymerase chain reaction (Click to remove)

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996

Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,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

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989

Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022

A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018

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

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

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

Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000

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

Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998

Human T-Cell Lymphotropic Virus Type 1-Associated Myelopathy, Sjogren Syndrome, and Lymphocytic Pneumonitis
Arch Neurol 53:940-942, Kompoliti,A.,et al, 1996

Human T-Cell Lymphotrophic Virus Type II-Associated Myelopathy:Clinical and Immunologic Profiles
Ann Neurol 40:714-723, Lenky,T.J.,et al, 1996

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

Chronic Myelopathy Associated with Human Herpesvirus-6
Neurol 45:2015-2017, Mackenzie,I.R.A.,et al, 1995

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993

Spastic Ataxia Associated with Human T-Cell Lymphotropic Virus Type II Infection
Ann Neurol 33:411-414, Harrington,W.J.,et al, 1993

Isolation of HTLV-II from Pt with Chronic, Prog Neurol Dis Clin Indistinguish from HAM/Tropical Spastic Paraparesis
Ann Neurol 33:392-396, Jacobson,S.,et al, 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

The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993

Presence of HTLV-I Proviral DNA in Central Nervous System of Patients with HTLV-I-Associated Myelopathy
Ann Neurol 31:39-45, Kira,J.,et al, 1992

Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992

Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992

Myelopathy Associated with Human T Cell Lymphotropic Virus Type 1 in a White European Native to England
BMJ 305:453, Ali,A.&Rudge,P., 1992

Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992

Human T Lymphotropic Virus Type I-Assoc Myelopathy, A Rpt of 10 Pts Born in US
Arch Neurol 49:1113-1118, Sheremata,W.A.,et al, 1992

Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992

HTLV-I-Associated Myelopathy Associated with Blood Transfusion in the US:Epidemiologic & Molecular Evidence
Neurol 41:192-197, Kaplan,J.E.,et al, 1991

Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,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

Prion Dementia Without Characteristic Pathology
Lancet 336:7-9, 21-221990., Collinge,J.,et al, 1990

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990



Showing articles 0 to 46 of 46