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Spinal Muscular Atrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Molecular Genetics in Neurology
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Newborn Screening for Fragile X Syndrome
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
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Genetics of Parkinsons Disease and Parkinsonism
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Malignant Hyperthermia, Update on Susceptibility Testing
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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Practice Parameter:Diagnostic Assessment of the Child with Cerebral Palsy
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What Level of Care for the Neurofibromatoses?
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Rapid Antibody Test for Fragile X Syndrome
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Molecular Genetic Advances in Fragile X Syndrome
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Detecting Susceptibility to Malignant Hyperthermia
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Population Screening for Fragile X
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Preventive Screening for the Fragile X Syndrome
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Preventive Screening for Fragile X Syndrome
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