Suchergebnisse - "Carrera García, Laura"

PubPharm (26)

1

Epilepsy in Duchenne and Becker muscular dystrophies

enthalten in: Annals of clinical and translational neurology | 2024

von Armijo Gómez, J. | Fernandez-Garcia, M. | Camacho, A. | +10

2

Improving Diagnostic Precision : Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

enthalten in: Journal of neuromuscular diseases | 2024

von Estévez-Arias, B. | Matalonga, L. | Martorell, L. | +13

3

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks : A Phase 3 Randomized Clinical Trial

enthalten in: JAMA neurology | 2023

von Kishnani, P. | Diaz-Manera, J. | Toscano, A. | +125

4

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

enthalten in: Acta neuropathologica | 2023

von Nascimento, A. | Bruels, C. | Donkervoort, S. | +31

5

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

enthalten in: Annals of clinical and translational neurology | 2023

von Natera-de Benito, D. | Olival, J. | Garcia-Cabau, C. | +11

6

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

enthalten in: Acta neuropathologica | 2023

von Nascimento, A. | Bruels, C. | Donkervoort, S. | +31

7

LMNA-related muscular dystrophy : Identification of variants in alternative genes and personalized clinical translation

enthalten in: Frontiers in genetics | 2023

von Cesar, S. | Coll, M. | Fiol, V. | +23

8

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

9

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

enthalten in: Annals of Clinical and Translational Neurology | 2023

von Natera‐de Benito, D. | Olival, J. | Garcia‐Cabau, C. | +11

10

Pathological Features in Paediatric Patients with TK2 Deficiency

enthalten in: International journal of molecular sciences | 2022

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