Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms

Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease due to motor neuron loss variably associated with frontotemporal dementia (FTD). Next generation sequencing technology revealed an increasing number of rare and novel genetic variants and interpretation of th...

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Publicado en:J Clin Med
Autores principales: Pensato, Viviana, Magri, Stefania, Dalla Bella, Eleonora, Tannorella, Pierpaola, Bersano, Enrica, Sorarù, Gianni, Gatti, Marta, Ticozzi, Nicola, Taroni, Franco, Lauria, Giuseppe, Mariotti, Caterina, Gellera, Cinzia
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073901/
https://ncbi.nlm.nih.gov/pubmed/32028661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9020412
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