I agree that this site is using cookies. You can find further informations here.
X
Canti, Jaume Coll
26  results:
OpenAccess-fulltext X
?
1

The need for establishing a universal CTG sizing method in ..:

Ballester López, Alfonsina ; Linares Pardo, Ian ; Koehorst, Emma...
Ballester-López, A., Linares-Pardo, I., Koehorst, E., Núñez-Manchón, J., Pintos-Morell, G., Coll-Cantí, J., Almendrote, M., Lucente, G., Arbex, A., Magaña, J. J., Murillo-Melo, N. M., Lucía, A., Monckton, D. G., Cumming, S. A., Ramos-Fransi, A., Martínez-Piñeiro, A., & Nogales-Gadea, G. (2020). The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1. Genes, 11(7), 757. https://doi.org/10.3390/genes11070757.  , 2020
Link: http://hdl.handle.net/11..
 
?
2

Genotypic and phenotypic features of all Spanish patients w..:

Santalla Hernández, Alfredo ; Nogales-Gadea, Gisela ; Blázquez Encinar, Alberto...
González-Quintana, A., Encinar, A. B., Lucia, A., Ballester-Lopez, A., Santalla, A., Andreu, A. L., . & Vieitez, I. (2017). Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC genomics, 18(8), 819..  , 2017
Link: http://hdl.handle.net/11..
 
?
3

Genes and exercise intolerance: Insights from McArdle disea..:

Nogales-Gadea, Gisela ; Godfrey, Richard ; Santalla Hernández, Alfredo...
Nogales-Gadea, G., Godfrey, R. J., Santalla, A., Coll-Cantí, J., Pintos-Morell, G., Pinós, T., . & Lucía, A. (2016). Genes and exercise intolerance: Insights from McArdle disease. Physiological genomics, physiolgenomics, 48(2), 93-100..  , 2016
Link: http://hdl.handle.net/11..
 
?
4

Taking advantage of an old concept, "illegitimate transcrip..:

García-Consuegra, Inés ; Blázquez Encinar, Alberto ; Rubio, Juan Carlos...
Garcia-Consuegra, I., Blázquez, A., Rubio, J. C., Arenas, J., Ballester-Lopez, A., González-Quintana, A., . & Nogales-Gadea, G. (2016). Taking advantage of an old concept,[ldquo] illegitimate transcription [rdquo], for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in Medicine, 18(11),1128-1135. DOI:10.1038/gim.2015.219.  , 2016
Link: http://hdl.handle.net/11..
 
?
5

Exercise and preexercise nutrition as treatment for McArdle..:

Nogales-Gadea, Gisela ; Santalla Hernández, Alfredo ; Ballester López, Alfonsina...
Nogales-Gadea, G., Santalla, A., Ballester-Lopez, A., Arenas, J., Martín, M. A., Godfrey, R., . & Lucia, A. (2016). Exercise and Preexercise Nutrition as Treatment for McArdle Disease. Medicine and science in sports and exercise, 48(4), 673-679..  , 2016
Link: http://hdl.handle.net/11..
 
?
6

Characterization of RAN Translation and Antisense Transcrip..:

Emma Koehorst ; Judit Núñez-Manchón ; Alfonsina Ballester-López...
https://www.mdpi.com/2077-0383/10/23/5520.  , 2021
Link: https://doi.org/10.3390/..
 
?
7

Characterization of RAN Translation and Antisense Transcrip..:

Emma Koehorst ; Judit Núñez-Manchón ; Alfonsina Ballester-López...
Clinical Neurology.  , 2021
Link: https://doi.org/10.3390/..
 
?
8

Preliminary Findings on CTG Expansion Determination in Diff..:

Alfonsina Ballester-Lopez ; Emma Koehorst ; Ian Linares-Pardo...
https://www.mdpi.com/2073-4425/11/11/1321.  , 2020
Link: https://doi.org/10.3390/..
 
?
9

The Need for Establishing a Universal CTG Sizing Method in ..:

Alfonsina Ballester-Lopez ; Ian Linares-Pardo ; Emma Koehorst...
Human Genomics and Genetic Diseases.  , 2020
Link: https://doi.org/10.3390/..
 
?
10

The Need for Establishing a Universal CTG Sizing Method in ..:

Alfonsina Ballester-Lopez ; Ian Linares-Pardo ; Emma Koehorst...
https://www.mdpi.com/2073-4425/11/7/757.  , 2020
Link: https://doi.org/10.3390/..
 
?
11

Preliminary Findings on CTG Expansion Determination in Diff..:

Alfonsina Ballester-Lopez ; Emma Koehorst ; Ian Linares-Pardo...
Human Genomics and Genetic Diseases.  , 2020
Link: https://doi.org/10.3390/..
 
?
12

Genotypic and phenotypic features of all Spanish patients w..:

Alfredo Santalla ; Gisela Nogales-Gadea ; Alberto Blázquez Encinar...
http://link.springer.com/article/10.1186/s12864-017-4188-2.  , 2017
Link: https://doi.org/10.1186/..
 
?
13

Characterization of RAN Translation and Antisense Transcrip..:

Koehorst, Emma ; Núñez-Manchón, Judit ; Ballester-López, Alfonsina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658563/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
?
14

Characterization of RAN Translation and Antisense Transcrip..:

Koehorst, Emma ; Núñez-Manchón, Judit ; Ballester-Lopez, Alfonsina...
Ministerio de Economía y Competitividad PI15/01756.  , 2021
Link: https://ddd.uab.cat/reco..
 
?
15

Three-dimensional imaging in myotonic dystrophy type 1:

Ballester-Lopez, Alfonsina ; Núñez-Manchón, Judit ; Koehorst, Emma...
Instituto de Salud Carlos III PI15-01756.  , 2020
Link: https://ddd.uab.cat/reco..
 
1-15