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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Dopa-Responsive Dystonia Revisited
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An unusual cause of stroke and hypoxia
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Fragile X Premutation With Atypical Symptoms at Onset
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Jaw Drop in Kennedy's Disease
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Advances in Molecular Analysis of Fragile X Syndrome
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Trinucleotide Repeat Expansion in Neurological Disease
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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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