Suchergebnisse - "Nascimento, Andrés"

PubPharm (7)

1

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

enthalten in: Brain : a journal of neurology | 2020

von Alonso-Pérez, J. | González-Quereda, L. | Bello, L. | +57

ErratumIn: Brain. 2023 Jan 5;146(1):e9. - PMID 36327125

2

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

enthalten in: Annals of neurology | 2019

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

3

PLA2G6-associated neurodegeneration : New insights into brain abnormalities and disease progression

enthalten in: Parkinsonism & related disorders | 2019

von Darling, A. | Aguilera-Albesa, S. | Tello, C. | +23

4

Retrospective natural history of thymidine kinase 2 deficiency

enthalten in: Journal of medical genetics | 2018

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

5

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

enthalten in: Scientific reports | 2017

von Sivera, R. | Frasquet, M. | Lupo, V. | +29

6

Ataluren treatment of patients with nonsense mutation dystrophinopathy

enthalten in: Muscle & nerve | 2014

von Bushby, K. | Finkel, R. | Wong, B. | +132

7

De novo LMNA mutations cause a new form of congenital muscular dystrophy

enthalten in: Annals of neurology | 2008

von Quijano-Roy, S. | Mbieleu, B. | Bönnemann, C. | +21

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