Suchergebnisse - "Badosa, Carmen"

PubPharm (17)

1

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

enthalten in: Scientific reports | 2023

von Badosa, C. | Roldán, M. | Fernández-Irigoyen, J. | +2

2

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

enthalten in: Journal of neuromuscular diseases | 2023

von Trifunov, S. | Natera-de Benito, D. | Carrera-García, L. | +12

3

Pathological Features in Paediatric Patients with TK2 Deficiency

enthalten in: International journal of molecular sciences | 2022

von Jou, C. | Nascimento, A. | Codina, A. | +19

4

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

enthalten in: International journal of molecular sciences | 2022

von Castroflorio, E. | Pérez Berná, A. | López-Márquez, A. | +4

5

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

enthalten in: International journal of molecular sciences | 2022

von López-Márquez, A. | Morín, M. | Fernández-Peñalver, S. | +10

6

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

enthalten in: Frontiers in bioengineering and biotechnology | 2022

von Almici, E. | Chiappini, V. | López-Márquez, A. | +10

7

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

enthalten in: Clinical chemistry | 2021

von Trifunov, S. | Paredes-Fuentes, A. | Badosa, C. | +16

8

Recurrent rhabdomyolysis and exercise intolerance : A new phenotype of late-onset thymidine kinase 2 deficiency

enthalten in: Molecular genetics and metabolism reports | 2021

von de Fuenmayor-Fernández de la Hoz, C. | Morís, G. | Jiménez-Mallebrera, C. | +5

9

Publisher Correction : Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

enthalten in: Scientific reports | 2020

von Milev, M. | Stanga, D. | Schänzer, A. | +16

ErratumFor: Sci Rep. 2019 Oct 1;9(1):14036. - PMID 31575891

10

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

enthalten in: Neuromuscular disorders : NMD | 2020

von Brisset, M. | Metay, C. | Carlier, R. | +9