Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
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UpToDate, Oct, Bodamer,O.A., 2022
Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
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Neurologic Crises in Hereditary Tyrosinemia
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