Federica Trombetta

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Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with(More)
Recent advances in high-throughput sequencing technologies have made ex-ome sequencing to be an outstanding tool for finding disease associated mutations at a relatively low cost. However, it is a non-trivial task to transform the vast amount of sequence data into meaningful variants to improve disease understanding. Several challenges arise when dealing(More)
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