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Spinal Muscular Atrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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The Tuberous Sclerosis Complex
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Molecular Genetic Advances in Fragile X Syndrome
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Molecular Genetics in Neurology
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Neurologic Crises in Hereditary Tyrosinemia
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