Judit Núñez‐Manchón

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

Alfonsina Ballester‐Lopez, Emma Koehorst, Míriam Almendrote et al. · Human Mutation · 2019 · 27 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Emma Koehorst, Judit Núñez‐Manchón, Alfonsina Ballester‐Lopez et al. · Journal of Clinical Medicine · 2021 · 14 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

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

Alfonsina Ballester‐Lopez, Emma Koehorst, Ian Linares‐Pardo et al. · Genes · 2020 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

Estefanía Cerro-Herreros, Judit Núñez‐Manchón, Neia Naldaiz‐Gastesi et al. · Science Advances · 2024 · 12 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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

Alfonsina Ballester‐Lopez, Ian Linares‐Pardo, Emma Koehorst et al. · Genes · 2020 · 10 citations · Full text

Medicine, Genetics, Molecular Genetics +9