Results 41 to 50 of about 34,474,015 (115)

Cardiac manifestations in myotonic dystrophy type 1

Кардиоваскулярная терапия и профилактика
Aim. To characterize cardiac damage in myotonic dystrophy type 1 (MD1), which is the most common form of hereditary primary muscular pathology in adults.Material and methods.
A. G. Klementieva, E. K. Erokhina, K. V. Shamtieva, E. A. Melnik, A. N. Khrobostova, M. B. Filipenko, A. A. Arakelyants, T. V. Peters, E. P. Pavlikova   +8 more
doaj   +1 more source

CRISPR‐Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background The sodium channel, Nav1.5, encoded by SCN5A, undergoes developmentally regulated splicing from inclusion of exon 6A in the fetal heart to exon 6B in adults.
Paul D. Pang, Katherina M. Alsina, Shuyi Cao, Amrita B. Koushik, Xander H.T. Wehrens, Thomas A. Cooper   +5 more
doaj   +1 more source

On the importance of including both sexes in animal studies – insights from home‐cage monitoring

Biological Reviews, Volume 101, Issue 5, Page 2408-2426, October 2026.
ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater, Adam Dušek, Aleksandra Bartelik, Silvia Mandillo, Elisabetta Golini, Mara Rigamonti, Rasneer Sonia Bains, Hamish Forrest, Marion Rivalan, Melissa Long, Anna Kiryk, Lars Lewejohann, Nuno Henrique Franco   +12 more
wiley   +1 more source

Anesthesia for a Patient with Myotonic Dystrophy

, 2016
Myotonic dystrophy is the most common myotonic syndrome causing abnormalities of the skeletal and smooth muscles as well as problems related to the cardiac, gastrointestinal and endocrine systems. In affected people, reduced functional residual capacity,
Dilek Kalaycı, Süheyla Ünver, Selda Muslu, Tuğba Aşkın, Menşure Kaya, Özlem Şen, Fetiye Eylem Akkuş   +6 more
core   +1 more source

Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network

Journal of Cardiovascular Development and Disease
Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network-“Rete delle Neurocardiologie” (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology units ...
Vincenzo Russo, Giovanni Antonini, Roberto Massa, Carlo Casali, Alfredo Mauriello, Anna Maria Martino, Roberto Marconi, Matteo Garibaldi, Pasquale Franciosa, Massimo Zecchin, Carlo Gaudio, Antonello D’Andrea, Stefano Strano   +12 more
doaj   +1 more source

Myotonic Dystrophy Initially Presenting as Tachycardiomyopathy Successful Catheter Ablation of Atrial Flutter

Cardiology Research and Practice, 2010
Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias.
S. Asbach, K. J. Gutleben, P. Dahlem, J. Brachmann, G. Nölker   +4 more
doaj   +1 more source

Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross‐Sectional Survey

Physiotherapy Research International, Volume 31, Issue 4, October 2026.
ABSTRACT Background and Purpose Spinal and bulbar muscular atrophy (SBMA) is an adult‐onset X‐linked neuromuscular disorder associated with progressive weakness, sensory involvement and impaired mobility. Falls appear frequent in SBMA, but their real‐world frequency and circumstances have not been systematically described.
Laurence E. Lee, Luca Zampedri, Dipa Jayaseelan, Carlo Rinaldi, Pietro Fratta, Gita M. Ramdharry   +5 more
wiley   +1 more source

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1

Nature Communications
Myotonic dystrophy type 1 is caused by the expression of expanded CTG repeats in the DMPK gene and the resulting loss of function of MBNL protein. Affected skeletal muscle displays abundant centrally located nuclei despite limited immune-cell–associated ...
Vanessa Todorow, Xavière Lornage, Shinichiro Hayashi, Fiorella Carla Grandi, Zoé Clerc, Jeanne Lainé, Michel Ney, Mégane Lemaitre, Corentin Rouxel, Maria Kondili, Piera Smeriglio, Hanseul Oh, Mie Kato, Nobuyuki Eura, Yoshihiko Saito, Francia Victoria A. De Los Reyes, Satoru Noguchi, Benedikt Schoser, Denis Furling, Ichizo Nishino, Peter Meinke, Frédérique Rau   +21 more
doaj   +1 more source

Responsiveness of outcome measures in myotonic dystrophy type 1

Annals of Clinical and Translational Neurology, 2020
Objective As myotonic dystrophy type 1(DM1) evolves slowly and interventional trials often have a short duration, responsive outcomes in DM1 are needed.
Kirsten L. Knak, Aisha M. Sheikh, Nanna Witting, John Vissing   +3 more
doaj   +1 more source

Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy

Nature Communications, 2023
In a double homozygous mouse model of myotonic dystrophy type 1, Hu et al. use antisense oligonucleotide correction of myotonia to induce a therapeutic shift from an overabundance of oxidative muscle fibers to mechanically stronger glycolytic fibers.
Ningyan Hu, Eunjoo Kim, Layal Antoury, Thurman M. Wheeler   +3 more
doaj   +1 more source