Miltenberger-Miltenyi, GabrielConceição, Vasco A.Gromicho, MartaPronto Laborinho, Ana CatarinaPinto, SusanaAndersen, Peter MunchCarvalho, Mamede2022-04-122022-04-122019J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):118-1200022-3050http://hdl.handle.net/10451/52300© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2019. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder with short survival, mainly due to respiratory failure. A pathological repeat expansion in the C9orf72 gene is observed in about 10% of the European ALS population and is associated with a worse prognosis. Still, the exact function of this gene is unknown. To understand the role of the C9orf72 expansion in disease prognosis, we tested the impact of this mutation on the respiratory function in ALS.engjournal article10.1136/jnnp-2018-3180321468-330X