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Alfonsina Ballester-Lopez
Alfonsina Ballester-Lopez
Fundació Institut Germans Trias i Pujol
Dirección de correo verificada de igtp.cat
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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
702017
Exercise and preexercise nutrition as treatment for McArdle disease
G Nogales-Gadea, A Santalla, A Ballester-Lopez, J Arenas, MA Martín, ...
342016
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
252020
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
242020
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
152018
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
152016
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
92021
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
92020
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
62020
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
62018
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
32020
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
32018
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
32018
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
12018
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
12016
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
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