Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

doi:10.3390/ijms21093346

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Article

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

International journal of molecular sciences - 8 May 2020

Scarlino Stefania, Domi Teuta, Pozzi Laura, Romano Alessandro, Pipitone Giovanni Battista, Falzone Yuri Matteo, Mosca Lorena, Penco Silvana, Lunetta Christian, Sansone Valeria, Tremolizzo Lucio, Fazio Raffaella, Agosta Federica, Filippi Massimo, Carrera Paola, Riva Nilo, Quattrini Angelo

Abstract excerpt

Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the aim of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched in motor neuron diseases (MND)-associated genes...

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PMID: 32397312
DOI: 10.3390/ijms21093346
PMCID: PMC7246633

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