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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Progressive Supranuclear Palsy: A Current Review
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Predictors of Diagnosis in Huntington Disease
Neurol 68:1710-1717, Langbehn,D.R.,et al, 2007
Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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Saccades in Presymptomatic and Early Stages of Huntington Disease
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Identification of an Oculomotor biomarker of Preclinical Huntington Disease
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West Nile Virus Neuroinvasive Disease
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The Tuberous Sclerosis Complex
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Functional Brain Changes in Presymptomatic Hunington's Disease
Ann Neurol 55:879-883, Reading,S.A.,et al, 2004
Challenges in the Identification of Cobalamin-Deficiency Polyneuropathy
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Diffusion Abnormalities in Patients with Wernicke Encephalopathy
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Practice Parameter: Diagnosis of Dementia (an Evidence-Based Review)
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Diagnostic Testing for Coagulopathies in Patients With Ischemic Stroke
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Family History and DNA Analysis in Patients With Suspected Huntington's Disease
JNNP 69:54-59, Siesling,S. et al, 2000
Presenting Features and Value of Diagnostic Procedures in Leptomeningeal Metastases
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Patients with Features Similar to Huntington's Disease, Without CAG Expansion in Huntingtin
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Usefulness of CT and MR Imaging in the Diagnosis of Acute Wernickes Encephalopathy
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Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
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Genetic Testing of Children at Risk for Huntington's Disease
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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The Inherited Ataxias and the New Genetics
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Diagnostic Guidelines in Central Nervous System Whipple's Disease
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
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Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
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Rapid Antibody Test for Fragile X Syndrome
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Mutation Analysis in Patients with Possible but Apparently Sporadic Huntington's Disease
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Trinucleotide Repeat Expansion in Neurological Disease
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Infantile Spasms as the Initial Symptom of Biotinidase Deficiency
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Advances in Molecular Analysis of Fragile X Syndrome
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