E-LIB Suche - Ergebnisse für: Jiménez-Mallebrera, Cecilia

1

Expanding the phenotypic spectrum ofTRAPPC11-related muscul..:

Justel, Maria ; Jou, Cristina ; Sariego-Jamardo, Andrea...
Journal of Medical Genetics. 60 (2023) 10 - p. 965-973 , 2023

Link: https://doi.org/10.1136/..

2

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/..

3

Innovative Computerized Dystrophin Quantification Method Ba..:

Codina, Anna ; Roldán, Mònica ; Natera-de Benito, Daniel...
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6358 , 2023

Link: https://doi.org/10.3390/..

4

Proteomic and functional characterisation of extracellular ..:

Badosa, Carmen ; Roldán, Mónica ; Fernández-Irigoyen, Joaquín..
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

5

The Capillary Morphogenesis Gene 2 Triggers the Intracellul..:

Castroflorio, Enrico ; Pérez Berná, Ana Joaquina ; López-Márquez, Arístides...
International Journal of Molecular Sciences. 23 (2022) 14 - p. 7651 , 2022

Link: https://doi.org/10.3390/..

6

Corrigendum to "Pediatric SMA patients with complex spinal ..:

Carrera-García, Laura ; Muchart, Jordi ; Lazaro, Juan José...
European Journal of Paediatric Neurology. 37 (2022) - p. 167-168 , 2022

Link: https://doi.org/10.1016/..

7

Pathological Features in Paediatric Patients with TK2 Defic..:

Jou, Cristina ; Nascimento, Andres ; Codina, Anna...
International Journal of Molecular Sciences. 23 (2022) 19 - p. 11002 , 2022

Link: https://doi.org/10.3390/..

8

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Domina..:

López-Márquez, Arístides ; Morín, Matías ; Fernández-Peñalver, Sergio...
International Journal of Molecular Sciences. 23 (2022) 8 - p. 4410 , 2022

Link: https://doi.org/10.3390/..

9

Personalized in vitro Extracellular Matrix Models of Collag..:

Almici, Enrico ; Chiappini, Vanessa ; López-Márquez, Arístides...
Frontiers in Bioengineering and Biotechnology. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fl..:

Trifunov, Selena ; Paredes-Fuentes, Abraham J ; Badosa, Carmen...
Clinical Chemistry. 67 (2021) 8 - p. 1113-1121 , 2021

Link: https://doi.org/10.1093/..

11

The Phenotype and Genotype of Congenital Myopathies Based o..:

Natera-de Benito, Daniel ; Ortez, Carlos ; Jou, Cristina...
Pediatric Neurology. 115 (2021) - p. 50-65 , 2021

Link: https://doi.org/10.1016/..

12

Association of Initial Maximal Motor Ability With Long-term..:

Natera-de Benito, Daniel ; Foley, A. Reghan ; Domínguez-González, Cristina...
Neurology. 96 (2021) 10 - p. , 2021

Link: https://doi.org/10.1212/..

13

Pediatric SMA patients with complex spinal anatomy: Impleme..:

Carrera-García, Laura ; Muchart, Jordi ; Lazaro, Juan José...
European Journal of Paediatric Neurology. 31 (2021) - p. 92-101 , 2021

Link: https://doi.org/10.1016/..

14

Platelet Derived Growth Factor-AA Correlates With Muscle Fu..:

Alonso-Jiménez, Alicia ; Fernández-Simón, Esther ; Natera-de Benito, Daniel...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

15

Recurrent rhabdomyolysis and exercise intolerance: A new ph..:

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Morís, Germán ; Jiménez-Mallebrera, Cecilia...
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100701 , 2021

Link: https://doi.org/10.1016/..