Suchergebnisse - "Nascimento, Andrés"

PubPharm (8)

1

Pathological Features in Paediatric Patients with TK2 Deficiency

enthalten in: International journal of molecular sciences | 2022

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

2

Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency

enthalten in: Orphanet journal of rare diseases | 2021

von Domínguez-González, C. | Madruga-Garrido, M. | Hirano, M. | +9

3

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

enthalten in: Scientific reports | 2020

von Dominguez-Gonzalez, C. | Badosa, C. | Madruga-Garrido, M. | +23

4

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

enthalten in: Annals of neurology | 2019

von Domínguez-González, C. | Madruga-Garrido, M. | Mavillard, F. | +24

5

Retrospective natural history of thymidine kinase 2 deficiency

enthalten in: Journal of medical genetics | 2018

von Garone, C. | Taylor, R. | Nascimento, A. | +40

6

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

enthalten in: BMC genomics | 2014

von Kalko, S. | Paco, S. | Jou, C. | +22

7

Mitochondrial DNA depletion syndrome : new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

enthalten in: Molecular genetics and metabolism | 2012

von Navarro-Sastre, A. | Tort, F. | Garcia-Villoria, J. | +11

8

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene

enthalten in: Pediatric research | 2010

von Martí, R. | Nascimento, A. | Colomer, J. | +7

ErratumIn: Pediatr Res. 2010 Nov;68(5):451

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