Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Transcriptome alterations in myotonic dystrophy frontal cortex

1 Jan 2021

Abstract excerpt

Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in skeletal muscle, heart, and central nervous system (CNS). CNS issues are debilitating and include hypersomnolence, executive dysfunction, white matter atrophy, and neurofibrillary tangles. Here, we generate RNA-seq transcriptomes from DM and unaffected frontal cortex and identify 130 high-confidence splicing changes, most...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Neurodegenerative Diseases
Share to Mitochondrial Function and Pathology
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33472074
DOI: 10.1016/j.celrep.2020.108634

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transcriptome alterations in myotonic dystrophy frontal cortexPMID 33472074Read ↗

Transcriptome Alterations in Myotonic Dystrophy Frontal CortexSemantic proximity Read ↗

A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patientsSemantic proximity Read ↗

Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.Semantic proximity Read ↗

Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I NeurodegenerationSemantic proximity Read ↗

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneSemantic proximity Read ↗

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicingSemantic proximity Read ↗

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGSSemantic proximity Read ↗

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type ISemantic proximity Read ↗

Comparative RNAseq analysis for the study of motoneuron diseases in multi-omics approachesSemantic proximity Read ↗

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathySemantic proximity Read ↗

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohortSemantic proximity Read ↗

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.