E-LIB Suche - Ergebnisse für: Alias, Laura

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/..

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/..

7

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/..

8

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/..

9

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/..

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/..