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Alías, Laura
142
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Online (142)
Mediatypes
E-Books (2)
Articles (Online) (45)
Bookchapter (Online) (1)
OpenAccess-fulltext (94)
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1
Full-Length SMN Transcript in Extracellular Vesicles as Bio..:
Trifunov, Selena
;
Natera-de Benito, Daniel
;
Carrera-García, Laura
...
Journal of Neuromuscular Diseases. 10 (2023) 4 - p. 653-665 , 2023
Link:
https://doi.org/10.3233/..
?
2
Case report: De novo pathogenic variant in WFS1 causes Wolf..:
Alías, Laura
;
López de Heredia, Miguel
;
Luna, Sabina
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
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3
Deep Molecular Characterization of Milder Spinal Muscular A..:
Blasco-Pérez, Laura
;
Costa-Roger, Mar
;
Leno-Colorado, Jordi
...
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8289 , 2022
Link:
https://doi.org/10.3390/..
?
4
High Mutational Heterogeneity, and New Mutations in the Hum..:
Bernal, Sara
;
Pelaez, Irene
;
Alias, Laura
...
International Journal of Molecular Sciences. 22 (2021) 18 - p. 9705 , 2021
Link:
https://doi.org/10.3390/..
?
5
Beyond copy number: A new, rapid, and versatile method for ..:
Blasco‐Pérez, Laura
;
Paramonov, Ida
;
Leno, Jordi
...
Human Mutation. 42 (2021) 6 - p. 787-795 , 2021
Link:
https://doi.org/10.1002/..
?
6
Next-generation sequencing reveals a new mutation in the LT..:
Alías, Laura
;
Crespi, Jaume
;
González-Quereda, Lidia
...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
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7
Correlation between SMA type and SMN2 copy number revisited..:
Calucho, Maite
;
Bernal, Sara
;
Alías, Laura
...
Neuromuscular Disorders. 28 (2018) 3 - p. 208-215 , 2018
Link:
https://doi.org/10.1016/..
?
8
Utility of two SMN1 variants to improve spinal muscular atr..:
Alías, Laura
;
Bernal, Sara
;
Calucho, Maite
...
European Journal of Human Genetics. 26 (2018) 10 - p. 1554-1557 , 2018
Link:
https://doi.org/10.1038/..
?
9
Sarcomeric disorganization and nemaline bodies in muscle bi..:
Pinto, Miguel M.
;
Monges, Soledad
;
Malfatti, Edoardo
...
Muscle & Nerve. 59 (2018) 1 - p. 137-141 , 2018
Link:
https://doi.org/10.1002/..
?
10
Genotype–phenotype correlation of SMN locus genes in spinal..:
Medrano, Sofía
;
Monges, Soledad
;
Gravina, Luis Pablo
...
European Journal of Paediatric Neurology. 20 (2016) 6 - p. 910-917 , 2016
Link:
https://doi.org/10.1016/..
?
11
Decay in survival motor neuron and plastin 3 levels during ..:
Boza-Morán, María G
;
Martínez-Hernández, Rebeca
;
Bernal, Sara
...
Scientific Reports. 5 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1038/..
?
12
Abnormalities in Early Markers of Muscle Involvement Suppor..:
Martínez-Hernández, Rebeca
;
Bernal, Sara
;
Alias, Laura
.
Journal of Neuropathology & Experimental Neurology. 73 (2014) 6 - p. 559-567 , 2014
Link:
https://doi.org/10.1097/..
?
13
Synaptic defects in type I spinal muscular atrophy in human..:
Martínez‐Hernández, Rebeca
;
Bernal, Sara
;
Also‐Rallo, Eva
...
The Journal of Pathology. 229 (2012) 1 - p. 49-61 , 2012
Link:
https://doi.org/10.1002/..
?
14
Ultrasound evaluation of fetal movements in pregnancies at ..:
Parra, Juan
;
Martínez-Hernández, Rebeca
;
Also-Rallo, Eva
...
Neuromuscular Disorders. 21 (2011) 2 - p. 97-101 , 2011
Link:
https://doi.org/10.1016/..
?
15
Plastin 3 expression in discordant spinal muscular atrophy ..:
Bernal, Sara
;
Also-Rallo, Eva
;
Martínez-Hernández, Rebeca
...
Neuromuscular Disorders. 21 (2011) 6 - p. 413-419 , 2011
Link:
https://doi.org/10.1016/..
1-15