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Research Interest Alpha-1 Antitrypsin Deficiency ALS Canavan Disease CDKL5 Disorder Cystic Fibrosis Duchenne Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy Fragile X Syndrome Friedreich’s Ataxia Frontotemporal Dementia Huntington’s Disease Neurofibromatosis Rett Syndrome Pompe Disease Retinitis Pigmentosa Tay Sachs
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