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Exposito-Escudero, J.
93
results:
Search for persons
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Format
Online (93)
Mediatypes
Articles (Online) (42)
OpenAccess-fulltext (51)
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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
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/..
?
12
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/..
?
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/..
1-15