1. C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis
- Author
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Miltenberger-Miltenyi, Gabriel, Conceição, Vasco A., Gromicho, Marta, Pronto Laborinho, Ana Catarina, Pinto, Susana, Andersen, Peter Munch, Carvalho, Mamede, and Repositório da Universidade de Lisboa
- Subjects
medicine.medical_specialty ,Neurology ,business.industry ,medicine.disease ,Respiratory Medicine ,03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,C9orf72 ,Internal medicine ,Cardiology ,medicine ,Surgery ,Respiratory function ,Neurology (clinical) ,Amyotrophic lateral sclerosis ,business ,030217 neurology & neurosurgery - Abstract
© 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., This study is included in the ONWebDUALS project (JPND- PS/0001/2013), an EU Joint Programme—Neurodegenerative Disease Research (JPND)—Fundação para a Ciência e Tecnologia initiative. VAC was independently funded by a PhD fellowship (PD/BD/105852/2014) from Fundação para a Ciência e Tecnologia, Portugal.
- Published
- 2018