Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipfuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease. Discover more here.

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
July 29, 2020
Review
Open Access

SAMHD1 acts at stalled replication forks to prevent interferon induction

Comptes rendus biologies
F CoquelP Pasero
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 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
August 5, 2020

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

Minerva pediatrica
Jolanta SoltysiakJacek Zachwieja
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 27, 2020
Open Access

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

BMC Research Notes
Yu SaitoTaketoshi Yoshida
July 6, 2020
Open Access

Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis

Experimental Eye Research
Rebecca E H WhitingMartin L Katz
July 9, 2020
Open Access

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach

Molecular Therapy. Methods & Clinical Development
Miki IkedaFumiaki Saito
July 31, 2020

High-dose Cholecalciferol Supplementation Reducing Morning Blood Pressure in Normotensive DM1 Patients

Current Diabetes Reviews
Natércia Neves Marques de QueirozJoão Soares Felício
July 10, 2020
Open Access

Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

The Journal of Cell Biology
Gilles MoulayStéphane Vassilopoulos
July 25, 2020
Preprint
Open Access

Neurodegeneration induces a developmental RNA processing program by calpain-mediated MBNL2 degradation

BioRxiv : the Preprint Server for Biology
Guey-Shin WangGuey-Shin Wang

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