Consensus-based care recommendations for pulmonologists treating adults with myotonic dystrophy type 1
M Boentert, M Cao, D Mass, E De Mattia, E Falcier… - Respiration, 2020 - karger.com
Purpose of Review: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic
disease that affects approximately 1 in 2,500 individuals globally [Ashizawa et al.: Neurol Clin …
disease that affects approximately 1 in 2,500 individuals globally [Ashizawa et al.: Neurol Clin …
Expanded access program with Nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience
…, S Luppone, E De Mattia, E Falcier… - Neuromuscular …, 2017 - nmd-journal.com
We would like to share our experience with the expanded access program (EAP) using
Nusinersen in infants and children with type 1 Spinal muscular atrophy (SMA). EAP is the use of …
Nusinersen in infants and children with type 1 Spinal muscular atrophy (SMA). EAP is the use of …
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire
E De Mattia, A Lizio, E Falcier, G Sannicolò… - Neuromuscular …, 2020 - Elsevier
Symptoms of respiratory involvement are frequently present but overlooked by patients with
Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test …
Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test …
Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1
…, A Lanza, P Rogliani, G Pezzuto, E Falcier… - Journal of Clinical …, 2021 - jcsm.aasm.org
Study Objectives: Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 is mostly
of central origin but it may coexist with sleep-related breathing disorders. However, there is …
of central origin but it may coexist with sleep-related breathing disorders. However, there is …
[HTML][HTML] Assessment of respiratory function and need for noninvasive ventilation in a cohort of patients with myotonic dystrophy type 1 followed at one single expert …
CR Ferrari Aggradi, E Falcier, A Lizio… - Canadian Respiratory …, 2022 - hindawi.com
Introduction. Respiratory insufficiency is one of the main causes of death in myotonic dystrophy
type 1 (DM1). Although there is general consensus that these patients have a restrictive …
type 1 (DM1). Although there is general consensus that these patients have a restrictive …
Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1
A Lizio, A Pirola, CRA Ferrari, L Mauro, E Falcier… - Neurological …, 2023 - Springer
Introduction Myotonic dystrophy type 1 is a slowly progressive, multisystem, autosomal
dominant disorder, in which the impairments of respiratory systems represent one of the main …
dominant disorder, in which the impairments of respiratory systems represent one of the main …
Passive versus active circuit during invasive mechanical ventilation in subjects with amyotrophic lateral sclerosis
BACKGROUND: Until recently, it has been considered essential to maintain the use of a
double-limb circuit in patients with amyotrophic lateral sclerosis (ALS) to avoid rebreathing …
double-limb circuit in patients with amyotrophic lateral sclerosis (ALS) to avoid rebreathing …
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the …
…, A Pirola, S Lupone, E De Mattia, E Falcier… - European Journal of …, 2018 - infona.pl
… Mercuri, Daniela Leone, Roberto de Sanctis, Nicola Forcina, Marco Piastra, Orazio
Genovese, Alessandro Pedicelli, Antonio Versaci, Imma Rulli, Eloisa Gitto, Cristina Faraone …
Genovese, Alessandro Pedicelli, Antonio Versaci, Imma Rulli, Eloisa Gitto, Cristina Faraone …
Assessment of respiratory function and need for non-invasive ventilation in a cohort of patients with myotonic dystrophy type 1 followed at one single expert centre
CRF Aggradi, E Falcier, A Lizio, A Pirola, J Casiraghi… - 2022 - europepmc.org
The above article, published online on 27 June 2022 in Wiley Online Library (wileyonlinelibrary.
com), has been retracted by agreement between the authors, the journal Editors in Chief…
com), has been retracted by agreement between the authors, the journal Editors in Chief…
[PDF][PDF] Research Article Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at …
CRF Aggradi, E Falcier, A Lizio, A Pirola, J Casiraghi… - 2022 - academia.edu
Introduction. Respiratory insufficiency is one of the main causes of death in myotonic dystrophy
type 1 (DM1). Although there is general consensus that these patients have a restrictive …
type 1 (DM1). Although there is general consensus that these patients have a restrictive …