E-LIB Suche - Ergebnisse für: Carrera‐García, Laura

1

Epilepsy in Duchenne and Becker muscular dystrophies:

Armijo Gómez, Jesus Alfonso ; Fernandez‐Garcia, Miguel A. ; Camacho, Ana...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1456-1464 , 2024

Link: https://doi.org/10.1002/..

2

Common pathophysiology for ANXA11 disorders caused by aspar..:

Natera‐de Benito, Daniel ; Olival, Jonathan ; Garcia‐Cabau, Carla...
Annals of Clinical and Translational Neurology. 10 (2023) 3 - p. 408-425 , 2023

Link: https://doi.org/10.1002/..

3

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐cl..:

Natera‐de Benito, Daniel ; Muchart, Jordi ; Itzep, Debora...
Epilepsia. 61 (2020) 5 - p. 971-983 , 2020

Link: https://doi.org/10.1111/..

4

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle..:

Carrera‐García, Laura ; Natera‐de Benito, Daniel ; Dieterich, Klaus...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 915-926 , 2019

Link: https://doi.org/10.1002/..

5

Androgen receptor dysfunction as a prevalent manifestation ..:

Carrera‐García, Laura ; Rivas‐Crespo, Maximiliano Francisco ; Fernández García, María Soledad
American Journal of Medical Genetics Part A. 173 (2017) 6 - p. 1710-1713 , 2017

Link: https://doi.org/10.1002/..

6

Improving Diagnostic Precision: Phenotype-Driven Analysis U..:

Estévez-Arias, Berta ; Matalonga, Leslie ; Martorell, Loreto...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 647-653 , 2024

Link: https://doi.org/10.3233/..

7

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: ..:

Martínez Olorón, Patricia ; Alegría, Iosune ; Cesar, Sergi...
International Journal of Molecular Sciences. 25 (2024) 11 - p. 5836 , 2024

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

8

LMNA-related muscular dystrophy: Identification of variants..:

Cesar, Sergi ; Coll, Monica ; Fiol, Victoria...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

9

Variants in DTNA cause a mild, dominantly inherited muscula..:

Nascimento, Andres ; Bruels, Christine C. ; Donkervoort, Sandra...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023

Link: https://doi.org/10.1007/..

10

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/..

11

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/..

12

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts i..:

Pijuan, Jordi ; Cantarero, Lara ; Natera-de Benito, Daniel...
Frontiers in Neuroscience. 16 (2022) - p. , 2022

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

13

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/..

14

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/..

15

Copper Toxicity Associated With an ATP7A-Related Complex Ph..:

Natera-de Benito, Daniel ; Sola, Abel ; Sousa, Paulo Rego...
Pediatric Neurology. 119 (2021) - p. 40-44 , 2021

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