E-LIB Suche - Ergebnisse für: Exposito-Escudero, J.

1

P406 Identification of a deep-intronic variant that results..:

Estévez-Arias, B. ; Yépez, V. ; Ortez, C....
Neuromuscular Disorders. 33 (2023) - p. S125 , 2023

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

2

P250 Epilepsy in Duchenne muscular dystrophy:

Gómez, J Armijo ; Liz, M. ; Ortez, C....
Neuromuscular Disorders. 33 (2023) - p. S177 , 2023

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

3

P181 Trio genome analysis in 45 unsolved children with neur..:

De Benito, D Natera ; Estevez-Arias, B. ; Matalonga, L....
Neuromuscular Disorders. 33 (2023) - p. S110 , 2023

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

4

FP.36 Genetic variants in DTNA cause a mild dominantly inhe..:

Nascimento, A. ; Bruels, C. ; Codina, A....
Neuromuscular Disorders. 32 (2022) - p. S113 , 2022

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

5

P.152 The novel ANXA11 variant p.Asp40Ile in a childhood-on..:

Natera-de Benito, D. ; Olival, J. ; Garcia-Cabau, C....
Neuromuscular Disorders. 32 (2022) - p. S109 , 2022

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

6

DMD – CLINICAL CARE:

Exposito-Escudero, J. ; Camacho, A. ; Amado, A....
Neuromuscular Disorders. 31 (2021) - p. S81 , 2021

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

7

COVID-19 AND NEUROMUSCULAR DISEASES:

Natera-de Benito, D. ; Aguilera-Albesa, S. ; Costa-Comellas, L....
Neuromuscular Disorders. 31 (2021) - p. S56 , 2021

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

8

CONGENITAL MUSCULAR DYSTROPHIES:

Natera-de Benito, D. ; Reghan-Foley, A. ; Domínguez-González, C....
Neuromuscular Disorders. 30 (2020) - p. S106 , 2020

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

9

Salbutamol tolerability and efficacy in patients with spina..:

Frongia, A.L. ; Natera-de Benito, D. ; Ortez, C....
Neuromuscular Disorders. 29 (2019) 7 - p. 517-524 , 2019

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

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..