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Coll-Cantí, Jaume
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1

Characterization of RAN Translation and Antisense Transcrip..:

Koehorst, Emma ; Núñez-Manchón, Judit ; Ballester-López, Alfonsina...
Journal of Clinical Medicine.  10 (2021)  23 - p. 5520 , 2021
Link: https://doi.org/10.3390/..
 
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2

Preliminary Findings on CTG Expansion Determination in Diff..:

Ballester-Lopez, Alfonsina ; Koehorst, Emma ; Linares-Pardo, Ian...
Genes.  11 (2020)  11 - p. 1321 , 2020
Link: https://doi.org/10.3390/..
 
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3

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

Ballester-Lopez, Alfonsina ; Linares-Pardo, Ian ; Koehorst, Emma...
Genes.  11 (2020)  7 - p. 757 , 2020
Link: https://doi.org/10.3390/..
 
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4

Study of the effect of anti-rhGAA antibodies at low and int..:

Fernández-Simón, Esther ; Carrasco-Rozas, Ana ; Gallardo, Eduard...
Molecular Genetics and Metabolism.  128 (2019)  1-2 - p. 129-136 , 2019
Link: https://doi.org/10.1016/..
 
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5

PDGF-BB serum levels are decreased in adult onset Pompe pat..:

Fernández-Simón, Esther ; Carrasco-Rozas, Ana ; Gallardo, Eduard...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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6

Quantitative muscle MRI to follow up late onset Pompe patie..:

Figueroa-Bonaparte, Sebastian ; Llauger, Jaume ; Segovia, Sonia...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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7

A novel mutation in the valosin-containing-protein gene fou..:

Lucente, Giuseppe ; Almendrote, Míriam ; Ramos-Fransi, Alba...
Journal of the Neurological Sciences.  391 (2018)  - p. 112-113 , 2018
Link: https://doi.org/10.1016/..
 
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8

Anti-SRP auto-antibodies are not specific for myositis: Rep..:

Rodríguez-Muguruza, Samantha ; Lozano-Ramos, Inés ; Coll-Canti, Jaume...
Joint Bone Spine.  84 (2017)  1 - p. 103-105 , 2017
Link: https://doi.org/10.1016/..
 
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9

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

Santalla, Alfredo ; Nogales-Gadea, Gisela ; Encinar, Alberto Blázquez...
BMC Genomics.  18 (2017)  S8 - p. , 2017
Link: https://doi.org/10.1186/..
 
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10

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

Garcia-Consuegra, Ines ; Blázquez, Alberto ; Rubio, Juan Carlos...
Genetics in Medicine.  18 (2016)  11 - p. 1128-1135 , 2016
Link: https://doi.org/10.1038/..
 
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11

10. Intraoperative neurophysiological monitoring implementa..:

Martinez, Alicia ; Serichol, Montserrat ; Garcia, Rosa...
Clinical Neurophysiology.  125 (2014)  5 - p. e16 , 2014
Link: https://doi.org/10.1016/..
 
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12

Brain pyruvate oxidation in experimental thiamin-deficiency..:

Munujos, Petraki ; Coll-Cantí, Jaume ; Beleta, Jorge..
Clinica Chimica Acta.  255 (1996)  1 - p. 13-25 , 1996
Link: https://doi.org/10.1016/..
 
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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...
 
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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..
 
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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..
 
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