Emma Koehorst

Badalona, CT 08916, Spain

Last Updated: 09/26/2026

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Found 9 publications

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

Journal: Biomedicines

Published: April 22, 2022

Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.

Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.

Journal: Journal of clinical medicine

Published: October 30, 2021

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I.

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I.

Journal: Journal of clinical medicine

Published: October 21, 2020

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

Journal: Genes

Published: September 18, 2020

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

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

Journal: Genes

Published: May 27, 2020

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Journal: Neurology. Genetics

Published: February 21, 2020

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

Journal: Human mutation

Published: August 21, 2018

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Journal: Journal of inherited metabolic disease

Published: July 22, 2018

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Journal: Journal of inherited metabolic disease

Published: January 31, 2018

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Last Updated: 09/26/2026