Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Neurologic Crises in Hereditary Tyrosinemia
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