Concepedia

Alfonsina Ballester‐Lopez

AB

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Publications

5

Citations

131

H-Index

5

Active since

2017

Affiliations

Hospital Universitari Germans Trias i Pujol(Current)

Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

Centre for Biomedical Network Research on Rare Diseases

Universitat Autònoma de Barcelona

Instituto de Salud Carlos III

Alfonsina Ballester‐Lopez is an author at Hospital Universitari Germans Trias i Pujol specializing in autoimmune disease, cellular physiology, and gene expression.

ORCID

Top concepts

Publications per year

2017–2021

5

Publications

5

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

Alfredo Santalla, Gisela Nogales‐Gadea, Alberto Blázquez et al. · BMC Genomics · 2017 · 68 citations · Full text

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 · 26 citations

Missense mutations have unexpected consequences: The McArdle disease paradigm

Inés García‐Consuegra, Sara Marcos Asensio, Alfonsina Ballester‐Lopez et al. · Human Mutation · 2018 · 14 citations

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 · 13 citations · Full text

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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 · 10 citations · Full text

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