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

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: <i>OPTN</i>, <i>VCP</i>, and <i>SQSTM1</i> 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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Bibliographic Details
Main Authors: Viviana Pensato, Stefania Magri, Eleonora Dalla Bella, Pierpaola Tannorella, Enrica Bersano, Gianni Sorarù, Marta Gatti, Nicola Ticozzi, Franco Taroni, Giuseppe Lauria, Caterina Mariotti, Cinzia Gellera
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:Journal of Clinical Medicine
Subjects:
amyotrophic lateral sclerosis
next generation sequencing
gene panel
genetic heterogeneity
mutation screening
Online Access:https://www.mdpi.com/2077-0383/9/2/412

Internet

https://www.mdpi.com/2077-0383/9/2/412

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