I agree that this site is using cookies. You can find further informations here.
X
Cristina Jou
242  results:
Search for persons X
?
1

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/..
 
?
2

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/..
 
?
3

Desensitizing the autonomic nervous system to mitigate anti..:

Mora, Jaume ; Climent, Alejandra ; Roldán, Mònica...
Frontiers in Oncology.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
?
4

New variants expand the neurological phenotype of COQ7 defi..:

Fabra, María Alcázar ; Paredes‐Fuentes, Abraham J. ; Torralba Carnerero, Manuel...
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
?
5

Temporo-Parieto-Occipital Disconnection by Robot-Assisted M..:

Candela-Cantó, Santiago ; Hinojosa, José ; Muchart, Jordi...
World Neurosurgery.  187 (2024)  - p. 124-132 , 2024
Link: https://doi.org/10.1016/..
 
?
6

Sphingolipid desaturase DEGS1 is essential for mitochondria..:

Planas-Serra, Laura ; Launay, Nathalie ; Goicoechea, Leire...
Journal of Clinical Investigation.  133 (2023)  10 - p. , 2023
Link: https://doi.org/10.1172/..
 
?
7

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/..
 
?
8

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/..
 
?
9

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/..
 
?
10

Fibroblast phenylalanine concentration as a surrogate bioma..:

Oliva, Clara ; Arias, Angela ; Ruiz, Montserrat...
Journal of Chromatography B.  1226 (2023)  - p. 123787 , 2023
Link: https://doi.org/10.1016/..
 
?
11

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/..
 
?
12

SARS-CoV-2 transmission in teenagers and young adults in Fú..:

Hernández-García, María ; Bassat, Quique ; Fumado, Victoria...
European Journal of Pediatrics.  182 (2023)  5 - p. 2421-2432 , 2023
Link: https://doi.org/10.1007/..
 
?
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

A Novel AIFM1‐Related Disorder Phenotype Treated with Deep ..:

Pijuan, Jordi ; Sevrioukova, Irina F. ; García‐Campos, Óscar...
Movement Disorders.  39 (2023)  1 - p. 215-217 , 2023
Link: https://doi.org/10.1002/..
 
?
15

Cerebrospinal Fluid Ion Analysis in Neonatal Seizures:

Casas-Alba, Díadac ; Oliva, Clara ; Salgado, María del Carmen...
Pediatric Neurology.  128 (2022)  - p. 16-19 , 2022
Link: https://doi.org/10.1016/..
 
1-15