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.

December 30, 2020
Open Access

Development of HER2-Specific Aptamer-Drug Conjugate for Breast Cancer Therapy

International Journal of Molecular Sciences
Hwa Yeon JeongSung-Chun Kim
January 16, 2021
Case Report
Open Access

Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy

Journal of Clinical and Translational Hepatology
Qiuli XieJianqiang Ding
December 12, 2020
Case Report

Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
Anna AnnunziataGiuseppe Fiorentino
January 10, 2021

Simple and Rapid LC-MS/MS Methods for Quantifying Catabolites of Antibody-Drug Conjugates with SMCC Linker

Journal of Chromatographic Science
Li LiHaifeng Song
January 20, 2021

Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1

Muscle & Nerve
Ellen van der PlasPeggy Nopoulos
December 10, 2020
Preprint
Open Access

Longitudinal Changes of Tongue Thickness and Tongue Pressure in Neuromuscular Disorders

ResearchSquare
George UmemotoYoshio Tsuboi
January 20, 2021

Cannabidiol induces antidepressant and anxiolytic-like effects in experimental type-1 diabetic animals by multiple sites of action

Metabolic Brain Disease
Yane Costa ChavesJanaína Menezes Zanoveli
January 4, 2021

Differentiating moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies

Muscle & Nerve
Tanya Lehky“Moebius Syndrome Research Consortium”
January 9, 2021
Open Access

Hyperglycemic levels in early stage of diabetic nephropathy affect differentially renal expression of claudins-2 and -5 by oxidative stress

Life Sciences
Lorena Rosas-MartínezLuz Graciela Cervantes-Pérez
January 21, 2021

Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?

Sleep Medicine
Doniparthi Venkata SeshagiriAtchayaram Nalini
January 2, 2021
Open Access

The impact of «faster aspart» on blood glucose control in children and adolescents with type 1 diabetes treated using a sensor-augmented insulin pump

Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)
Jesús González de Buitrago AmigoMarta Ferrer Lozano
January 13, 2021

In vitro effects of Trastuzumab Emtansine (T-DM1) and concurrent irradiation on HER2-positive breast cancer cells

Cancer radiothérapie : journal de la Société française de radiothérapie oncologique
Fabien MignotFrédérique Megnin-Chanet
December 16, 2020

Impact of metabolic surgery on type-2 diabetes remission

Current Diabetes Reviews
Cejana de Abrantes Figueiredo BaiocchiAlberto Krayyem Arbex
December 30, 2020

Effect of exercise training on functional capacity and body composition in myotonic dystrophy type 2 patients

Muscle & Nerve
Eleni KontouGerasimos Terzis
January 14, 2021
Open Access

Is it possible to prevent diabetic ketoacidosis at diagnosis of pediatric type 1 diabetes? Lessons from the COVID-19 pandemic

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde
Kirsten MönkemöllerDPV Initiative
January 19, 2021

Myotonic dystrophy type 2: the 2020 update

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
Giovanni Meola

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