Myotonic dystrophy

Papers on myotonic dystrophy

29 papers3 new in 30 days

Thursday, November 5

bioRxivNov 5

Metformin lowers HMGA1a and RBM3 protein in breast cancer cells, and its effect on ESR1 splicing depends on cell density and exposure time

Preprint: experiments in human cellsMetformin

Tuesday, November 3

International Journal of Rehabilitation Research Internationale Zeitschrift Fur Rehabilitationsforschung Revue Internationale de Recherches de ReadaptationNov 3

Nonpharmacological and rehabilitative interventions for adults with myotonic dystrophy type 1: a systematic review

Systematic review of studies in peopleInterventions

Saturday, October 10

BrainOct 10

Myotonic dystrophy gene changes found in 1 in 1,527 people

Across 985,026 participants, disease-causing DNA expansions occurred in about 1 in 1,527, compared with earlier disease prevalence estimates of 1 in 3,000–8,000.Across 985,026 participants, disease-causing DNA expansions occurred in about 1 in 1,527, compared with earlier disease prevalence estimates of 1 in 3,000–8,000.

Figure from Brain

Genetic association study of 985,026 peoplePopulations

Tuesday, March 3

Life Science AllianceMar 3

Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice

Experiments in miceMetformin

Monday, February 23

Neurology Clinical PracticeFeb 23

Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability

Cohort study of 135 peopleStatins

Thursday, March 6

Frontiers in NeurologyMar 6

Quantitative magnetic resonance imaging parameters of lumbar paraspinal muscle impairment in myotonic dystrophy type 2 and their evolution with aging

Cross-sectional study in peopleBiomarkers

Thursday, December 26

BioEssaysDec 26

New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target

ReviewInterventions

Tuesday, December 17

CellsDec 17

A Novel Class of FKBP12 Ligands Rescues Premature Aging Phenotypes Associated with Myotonic Dystrophy Type 1

Experiments in fliesInterventions

Thursday, September 26

Aging and DiseaseSep 26

Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review

ReviewBiomarkers

Tuesday, May 21

Communications BiologyMay 21

A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals

Genetic association study of 3,452 peoplePopulations

Friday, December 22

PLOS GeneticsDec 22

The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism

Experiments in wormsMechanisms

Tuesday, August 1

Journal of Biomolecular Structure & DynamicsAug 1

Computational identification and molecular dynamics simulation of potential circularRNA derived peptide from gene expression profile of Rheumatoid arthritis, Alzheimer's disease, and Atrial fibrillation

Computational studyMechanisms

Thursday, July 20

Nature CommunicationsJul 20

Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1

Experiments in animalsMuscle

Saturday, December 24

Journal of Personalized MedicineDec 24

Cholesterol Management in Neurology: Time for Revised Strategies?

ReviewInterventions

Wednesday, August 31

JCI InsightAug 31

Senescence plays a role in myotonic dystrophy type 1

Study in peopleInterventions

Saturday, June 25

bioRxivJun 25

Clearance of defective muscle stem cells by senolytics reduces the expression of senescence-associated secretory phenotype and restores myogenesis in myotonic dystrophy type 1

Preprint: experiments in animalsMuscle

Tuesday, April 12

Frontiers in GeneticsApr 12

Expanded CUG Repeat RNA Induces Premature Senescence in Myotonic Dystrophy Model Cells

Experiments in human cellsCellular senescence

Sunday, February 27

International Journal of Molecular SciencesFeb 27

Cellular Senescence and Aging in Myotonic Dystrophy

ReviewCellular senescence

Thursday, December 2

GeneticsDec 2

Loss of muscleblind splicing factor shortens Caenorhabditis elegans lifespan by reducing the activity of p38 MAPK/PMK-1 and transcription factors ATF-7 and Nrf/SKN-1

Experiments in wormsp38 MAPK signaling

Sunday, November 28

CellsNov 28

Drosophila Heart as a Model for Cardiac Development and Diseases

ReviewMechanisms

Thursday, September 9

eLifeSep 9

Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function

Experiments in fliesInterventions

Saturday, May 22

Mechanisms of Ageing and DevelopmentMay 22

New insights into molecular changes in skeletal muscle aging and disease: Differential alternative splicing and senescence

Experiments in miceRNA splicing

Tuesday, October 13

Journal of Neuromuscular DiseasesOct 13

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1

Trial in peopleInterventions

Tuesday, April 21

AgingApr 21

Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

Experiments in human cellsMetformin

Wednesday, July 25

Frontiers in NeurologyJul 25

Myotonic Dystrophy-A Progeroid Disease?

Experiments in human cellsMechanisms

Friday, October 1

Rinsho ShinkeigakuOct 1

A clinical trial of creatine monohydrate in muscular dystrophy patients

Non-randomized trial in 29 peopleCreatine

Friday, February 1

Ageing Research ReviewsFeb 1

Uses of DHEA in aging and other disease states

ReviewInterventions

Sunday, May 1

NeurologyMay 1

The treatment of myotonia: evaluation of chronic oral taurine therapy

Randomized trial in 9 peopleTaurine

Monday, March 1

Annals of NeurologyMar 1

Taurine and hyperexcitable human muscle: effects of taurine on potassium-induced hyperexcitability of dystrophic myotonic and normal muscles

Non-randomized trial in peopleTaurine