Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family.
Giovanna MorelloGiulia GentileRossella SpataroAntonio Gianmaria SpampinatoMaria GuarnacciaSalvatore SalomoneVincenzo La BellaFrancesca Luisa ConfortiSebastiano CavallaroPublished in: Journal of personalized medicine (2020)
Overall, our work supports the utility to apply personal genomic information for characterizing complex disease phenotypes.