Clinicopathologic Conference, Paraneoplastic Encephalomyelitis Due to Small-Cell Lung Carcinoma and Concurrent Cerebral Amyloid Angiopathy
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Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
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An Older Man with Memory Impairment and Convulsions
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A 54-year-old woman with Dementia, Myoclonus, and Ataxia
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Sarcoidosis Limbic Encephalitis
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MRI in X-Linked Adrenoleukodystrophy
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Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Newborn Screening for Fragile X Syndrome
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Granulomatous Meningitis due to Rheumatoid Arthritis
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Extension of the Clinical Spectrum of Danon Disease
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Whipples Disease
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Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Mental Retardation
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New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
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Diagnosing Motor Neurone Disease
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
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Rapid Antibody Test for Fragile X Syndrome
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Do Young Boys with Fragile X Syndrome have Macroorchidism
Pediatrics 93:992-995, Lachiewicz,A.M.&Dawson,D.V., 1994
Advances in Molecular Analysis of Fragile X Syndrome
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Molecular Genetic Advances in Fragile X Syndrome
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Presenile-Onset Cerebral Adrenoleukodystrophy Presenting as Balint's Syndrome and Dementia
Neurol 43:1249-1251, Uyama,E.,et al, 1993
X-Linked Adrenoleukodystrophy:Adult Cerebral Variant
Neurol 43:1518-1522, Farrell,D.F.,et al, 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Detection of Full Fragile X Mutation
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Population Screening for Fragile X
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
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Mental Retardation in Turner Syndrome
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Neurofibromatosis Type I in Children
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Encephalotrigeminal Angiomatosis
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