Brain pathogenesis and potential therapeutic strategies in myotonic dystrophy type 1
J Liu, ZN Guo, XL Yan, Y Yang… - Frontiers in aging …, 2021 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …
Assessment of respiratory function and need for noninvasive ventilation in a cohort of patients with myotonic dystrophy type 1 followed at one single expert center
CR Ferrari Aggradi, E Falcier, A Lizio… - Canadian …, 2022 - Wiley Online Library
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 …
dystrophy type 1 (DM1). Although there is general consensus that these patients have a …
Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study
J Garmendia, G Labayru, M Zulaica… - European Journal of …, 2023 - Wiley Online Library
Background and purpose Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic
disease that is characterized by heterogeneous manifestations. Although muscular …
disease that is characterized by heterogeneous manifestations. Although muscular …
[HTML][HTML] Natural history of cardiac involvement in myotonic dystrophy type 1–Emphasis on the need for lifelong follow-up
H Petri, BJY Mohammad, AT Kristensen… - International Journal of …, 2024 - Elsevier
Background Cardiac involvement represents a major cause of morbidity and mortality in
patients with myotonic dystrophy type 1 (DM1) and prevention of sudden cardiac death …
patients with myotonic dystrophy type 1 (DM1) and prevention of sudden cardiac death …
[HTML][HTML] Survival in myotonic dystrophy type 1: a long time follow up-study with special reference to gastrointestinal symptoms
A Rönnblom, A Ekbom - Upsala Journal of Medical Sciences, 2024 - pmc.ncbi.nlm.nih.gov
Background Myotonic dystrophy type 1 (DM1) is a monogenetic disease affecting many
organs. Gastrointestinal symptoms are prevalent and of considerable consequences for …
organs. Gastrointestinal symptoms are prevalent and of considerable consequences for …
Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1
Objective In myotonic dystrophy type 1 (DM1), the CTG repeat size in the dystrophia
myotonica protein kinase gene has been shown to correlate with disease severity and is a …
myotonica protein kinase gene has been shown to correlate with disease severity and is a …
DM-IMT-Kontrollierte, randomisierte, dreiarmige Interventionsstudie zur Sicherheit und Effektivität des regelmäßigen Atemmuskeltrainings bei Patienten mit Myotoner …
EM Heidsieck - 2024 - edoc.ub.uni-muenchen.de
Myotonic dystrophy type 1 is an autosomal dominant CTG trinucleotide disorder and counts
as one of the most common hereditary muscle diseases with myotonia in adults. During the …
as one of the most common hereditary muscle diseases with myotonia in adults. During the …
Fenotipo asociado al diagnóstico clínico precoz de la distrofia miotónica tipo 1
D Licourt-Otero, M Orraca-Castillo… - Revista de Ciencias …, 2024 - revcmpinar.sld.cu
Introducción: en la distrofia miotónica tipo 1 existe amplia variabilidad fenotípica que
dificulta llegar al diagnóstico definitivo y este se retrasa más allá de un año, lo que se …
dificulta llegar al diagnóstico definitivo y este se retrasa más allá de un año, lo que se …
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 …
(wileyonlinelibrary. com), has been retracted by agreement between the authors, the journal …