Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update A Santalla, G Nogales-Gadea, AB Encinar, I Vieitez, A González-Quintana, ... BMC genomics 18, 39-47, 2017 | 71 | 2017 |
Exercise and preexercise nutrition as treatment for McArdle disease G Nogales-Gadea, A Santalla, A Ballester-Lopez, J Arenas, MA Martín, ... | 35 | 2016 |
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype A Ballester‐Lopez, E Koehorst, M Almendrote, A Martínez‐Piñeiro, ... Human mutation 41 (2), 420-431, 2020 | 25 | 2020 |
The biomarker potential of miRNAs in myotonic dystrophy type I E Koehorst, A Ballester-Lopez, V Arechavala-Gomeza, A Martínez-Piñeiro, ... Journal of Clinical Medicine 9 (12), 3939, 2020 | 24 | 2020 |
Missense mutations have unexpected consequences: The McArdle disease paradigm I García‐Consuegra, S Asensio‐Peña, A Ballester‐Lopez, ... Human Mutation 39 (10), 1338-1343, 2018 | 15 | 2018 |
Taking advantage of an old concept,“illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease I Garcia-Consuegra, A Blázquez, JC Rubio, J Arenas, A Ballester-Lopez, ... Genetics in Medicine 18 (11), 1128-1135, 2016 | 15 | 2016 |
The need for establishing a universal CTG sizing method in myotonic dystrophy type 1 A Ballester-Lopez, I Linares-Pardo, E Koehorst, J Núñez-Manchón, ... Genes 11 (7), 757, 2020 | 10 | 2020 |
Characterization of RAN translation and antisense transcription in primary cell cultures of patients with myotonic dystrophy type 1 E Koehorst, J Núñez-Manchón, A Ballester-López, M Almendrote, ... Journal of clinical medicine 10 (23), 5520, 2021 | 9 | 2021 |
Preliminary findings on ctg expansion determination in different tissues from patients with myotonic dystrophy type 1 A Ballester-Lopez, E Koehorst, I Linares-Pardo, J Núñez-Manchón, ... Genes 11 (11), 1321, 2020 | 9 | 2020 |
Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins J Núñez‐Manchón, A Ballester‐Lopez, E Koehorst, I Linares‐Pardo, ... Journal of Inherited Metabolic Disease 41 (6), 1027-1035, 2018 | 6 | 2018 |
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype A Ballester-Lopez, J Núñez-Manchón, E Koehorst, I Linares-Pardo, ... Neurology: Genetics 6 (4), e484, 2020 | 4 | 2020 |
A novel mutation in the valosin-containing-protein gene found in a Spanish family G Lucente, M Almendrote, A Ramos-Fransi, A Martínez-Piñeiro, ... Journal of the Neurological Sciences 391, 112-113, 2018 | 3 | 2018 |
Myotilinopathy unmasked by statin treatment: a case report A Ramos-Fransi, A Martínez-Piñeiro, M Almendrote, G Lucente, C Carrato, ... Muscle & nerve 57 (6), E138-E140, 2018 | 3 | 2018 |
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality‐role of statins J Núñez‐Manchón, A Ballester‐Lopez, E Koehorst, I Linares‐Pardo, ... Journal of Inherited Metabolic Disease 41 (6), 1295-1295, 2018 | 1 | 2018 |
Taking advantage of an old concept,“illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease A Ballester-Lopez, A Blazquez, JC Rubio, J Arenas, A Gonzalez-Quintana, ... Neuromuscular Disorders 26, S198, 2016 | 1 | 2016 |
Myotonic Dystrophy Type 1: the heterogeneity of a complex disease in a global research approach A Ballester López | | 2020 |
Muscle single-cell analysis reveals that RNA foci accumulation is linked to muscle dysfunction in patients with myotonic dystrophy type I J Núñez-Manchón, A Ballester-Lopez, I Linares-Pardo, E Koehorst, ... Authorea Preprints, 2020 | | 2020 |
Análisis de aplicaciones móviles para reducir peso y mejorar la relación con los alimentos en personas con sobrepeso/obesidad LM Cantisano, MR González Soltero, MA Blanco Fernández, ... | | 2020 |
Manifesting heterozygotes in McArdle disease I Ara Royo, C Rodriguez Lopez, J Núñez Manchón, A Ballester-Lopez, ... Springer, 2018 | | 2018 |
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update A Santalla Hernández, G Nogales-Gadea, A Blázquez Encinar, I Vieitez, ... | | 2017 |