Myotonic Dystrophy

Myotonic Dystrophy is an autosomal dominant neuromuscular disorder associated with the expansion of CTG trinucleotide repeats in the 3’ untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Here is the latest research.

July 11, 2020
Open Access

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

Genes
Alfonsina Ballester-LopezGisela Nogales-Gadea
July 17, 2020
Open Access

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

Frontiers in Neurology
Alayne P MeyerW David Arnold
July 17, 2020
Preprint
Open Access

Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I Neurodegeneration

BioRxiv : the Preprint Server for Biology
A. Jimenez-MarinJesus M Cortes
August 8, 2020

Could the E/A ratio be included in the cardiological evaluation of the offspring of diabetic mothers? A case-control study in South Sardinia

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Stella Giulia FalquiPaola Neroni
August 11, 2020
Review

Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation

Current Opinion in Genetics & Development
Hiroyuki Ishiura, Shoji Tsuji
August 1, 2020

A Case of Myotonic Dystrophy Type I With Rimmed Vacuoles in Skeletal Muscle Pathology

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases
Rui BanQiang Shi
July 28, 2020

Genome-wide detection of tandem DNA repeats that are expanded in autism

Nature
Brett TrostRyan K C Yuen
August 9, 2020
Review

Sodium-glucose cotransporter 2 inhibitors (SGLT2i): renal implications

International Urology and Nephrology
Alejandrina M CastañedaCarlos G Musso
July 14, 2020
Open Access

Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion

Science Advances
Gustavo A Ruiz BuendíaVincent Dion
July 21, 2020

Evaluating the Diagnostic and Prognostic Value of Biomarkers for Heart Disease and Major Adverse Cardiac Events in Patients With Muscular Dystrophy

European Heart Journal. Quality of Care & Clinical Outcomes
Anish NikhanjGavin Y Oudit
July 17, 2020
Open Access

Responsiveness of outcome measures in myotonic dystrophy type 1

Annals of Clinical and Translational Neurology
Kirsten L KnakJohn Vissing
July 16, 2020
Open Access

Accuracy of short tandem repeats genotyping tools in whole exome sequencing data

F1000Research
Andreas Halman, Alicia Oshlack
August 5, 2020

Early kidney damage in diabetic adolescents with increased blood pressure and glomerular hyperfiltration

Minerva pediatrica
Jolanta SoltysiakJacek Zachwieja
July 10, 2020

Re-focusing on Agnathia-Otocephaly complex

Clinical Oral Investigations
C DubucsJulie Plaisancié
July 14, 2020

Optimization of the Linker Domain in a Dimeric Compound that Degrades an r(CUG) Repeat Expansion in Cells

Journal of Medicinal Chemistry
Raphael BenhamouMatthew Disney
July 25, 2020
Open Access

Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy

BMC Research Notes
Yu SaitoTaketoshi Yoshida
August 1, 2020
Review
Open Access

TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat associated disease

Progress in Retinal and Eye Research
Michael P FautschAlice E Davidson

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