Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Congenital Cytomegalovirus Infection
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Diagnostic Guidelines in Central Nervous System Whipple's Disease
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Babesiosis: Clinical Manifgestations and Diagnosis
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A 71-Year-Old Man with Horizontal Gaze Palsy, Anarthria, and Quadriparesis
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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
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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
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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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
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Clinical Findings and Diagnosis in Human Granulocytic Anaplasmosis: A Case Series from Massachusetts
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Progressive Multifocal Leukoencephalopathy in Individuals with Minimal or Occult Immunosuppression
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The Patient Has the Diagnosis
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Whipples Disease
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinicopath Conf, Human Granulocytic Ehrlichiosis
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Clinicopath Conf,Encephalomyelitis Due to West Nile Virus and CLL, Case 22-2005
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Fatal Myositis Due to the Microsporidian Brachiola algerae, a Mosquito Pathogen
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Kennedy Disease
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Out of Africa, Trypanosomiasis
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West Nile Virus Encephalitis
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Subacute Sclerosing Panencephalitis
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PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
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Recurrent Strokes in a 34-Year-Old Man
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Human T-Cell Lymphotrophic Virus Type II-Associated Myelopathy:Clinical and Immunologic Profiles
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Late-Onset Mitochondrial Myopathy
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Lyme Neuroborreliosis
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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Sequences Specific for Enterovirus Detected in Spinal Cord from Patients with Motor Neurone Disease
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Molecular Genetic Advances in Fragile X Syndrome
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Molecular Genetics in Neurology
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Detection of Full Fragile X Mutation
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Genetic Diagnosis of Gaucher's Disease
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Population Screening for Fragile X
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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