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...
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: | |
Online Access: | https://www.mdpi.com/2077-0383/9/2/412 |
Similar Items
-
Segregation Analysis of Rare <i>NRP1</i> and <i>NRP2</i> Variants in Families with Lymphedema
by: Sandro Michelini, et al.
Published: (2020-11-01) -
POLYMORPHIC VARIANTS OF SUNFLOWER <i> RFL-PPR </i> GENES AS MOLECULAR GENETIC MARKERS
by: I. N. Anisimova, et al.
Published: (2018-08-01) -
Genetics and Genomics of <i>SOST</i>: Functional Analysis of Variants and Genomic Regulation in Osteoblasts
by: Núria Martínez-Gil, et al.
Published: (2021-01-01) -
Functional Genetic Variants in <i>ATG10</i> Are Associated with Acute Myeloid Leukemia
by: Isabel Castro, et al.
Published: (2021-03-01) -
A Rare Variant in <i>ERF</i> (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree
by: Lisa Anne Cannon-Albright, et al.
Published: (2021-05-01)