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Neurofibromatosis Type I in Children
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Familial Cavernous Angiomas
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Paraparesis in Hereditary Multiple Exostoses:Case Report
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 6-Year-Old Girl with Progressive Toe Walking
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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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Hydrocephalus in Children
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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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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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Diagnosis and New Treatments in Muscular Dystrophies
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Dystonia
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Adrenoleukodystrophy
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Mental Retardation
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Learning Disability
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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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 Genetic Advances in Fragile X Syndrome
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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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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
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Detection of Full Fragile X Mutation
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
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More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991
Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
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X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
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