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Nascimento, Andrés
656
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Online (656)
Mediatypes
Articles (Online) (225)
Bookchapter (Online) (9)
OpenAccess-fulltext (422)
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1
Mutations of GEMIN5 are associated with coenzyme Q10 defici..:
Cascajo-Almenara, Marivi V.
;
Juliá-Palacios, Natalia.
;
Urreizti, Roser
...
European Journal of Human Genetics. 32 (2024) 4 - p. 426-434 , 2024
Link:
https://doi.org/10.1038/..
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2
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/..
?
3
Advancing the Understanding of Vesicle-Associated Membrane ..:
Natera-de Benito, Daniel
;
Pugliese, Alessia
;
Polavarapu, Kiran
...
Pediatric Neurology. 157 (2024) - p. 5-13 , 2024
Link:
https://doi.org/10.1016/..
?
4
The emerging spectrum of neurodevelopmental comorbidities i..:
Baranello, Giovanni
;
Roy, Susana Quijano
;
Servais, Laurent
...
European Journal of Paediatric Neurology. 48 (2024) - p. 67-68 , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
SDS22 coordinates the assembly of holoenzymes from nascent ..:
Cao, Xinyu
;
Lake, Madryn
;
Van der Hoeven, Gerd
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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7
Single cell RNA sequencing of human FAPs reveals different ..:
Fernández-Simón, Esther
;
Piñol-Jurado, Patricia
;
Gokul-Nath, Rasya
...
Frontiers in Cell and Developmental Biology. 12 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
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8
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/..
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9
Description of clinical and genetic features of 122 patient..:
Martinez-Marin, Rafael Jenaro
;
Reyes-Leiva, David
;
Nascimento, Andrés
...
Neuromuscular Disorders. 34 (2024) - p. 1-8 , 2024
Link:
https://doi.org/10.1016/..
?
10
Two-year efficacy and safety of risdiplam in patients with ..:
Oskoui, Maryam
;
Day, John W.
;
Deconinck, Nicolas
...
Journal of Neurology. 270 (2023) 5 - p. 2531-2546 , 2023
Link:
https://doi.org/10.1007/..
?
11
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/..
?
12
Expanding the phenotypic spectrum ofTRAPPC11-related muscul..:
Justel, Maria
;
Jou, Cristina
;
Sariego-Jamardo, Andrea
...
Journal of Medical Genetics. 60 (2023) 10 - p. 965-973 , 2023
Link:
https://doi.org/10.1136/..
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13
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/..
?
14
Innovative Computerized Dystrophin Quantification Method Ba..:
Codina, Anna
;
Roldán, Mònica
;
Natera-de Benito, Daniel
...
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6358 , 2023
Link:
https://doi.org/10.3390/..
?
15
Decoding the transcriptome of Duchenne muscular dystrophy t..:
Suárez-Calvet, Xavier
;
Fernández-Simón, Esther
;
Natera, Daniel
...
Cell Death & Disease. 14 (2023) 9 - p. , 2023
Link:
https://doi.org/10.1038/..
1-15