I agree that this site is using cookies. You can find further informations here.
X
Madruga, Marcos
243  results:
Search for persons X
?
1

Pathogenic TRIO variants associated with neurodevelopmental..:

Bonnet, Maxime ; Roche, Fiona ; Fagotto-Kaufmann, Christine...
Molecular Psychiatry.  28 (2023)  4 - p. 1527-1544 , 2023
Link: https://doi.org/10.1038/..
 
?
2

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1722-1740 , 2023
Link: https://doi.org/10.1002/..
 
?
3

Genetic diagnosis of Duchenne and Becker muscular dystrophy..:

Segarra-Casas, Alba ; Domínguez-González, Cristina ; Hernández-Laín, Aurelio...
Journal of Medical Genetics.  60 (2022)  6 - p. 615-619 , 2022
Link: https://doi.org/10.1136/..
 
?
4

Desmin Modulates Muscle Cell Adhesion and Migration:

Hakibilen, Coralie ; Delort, Florence ; Daher, Marie-Thérèse...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
?
5

COVID-19 in children with neuromuscular disorders:

Natera-de Benito, Daniel ; Aguilera-Albesa, Sergio ; Costa-Comellas, Laura...
Journal of Neurology.  , 2021
Link: https://doi.org/10.1007/..
 
?
6

Association of Group AStreptococcusExposure and Exacerbatio..:

Martino, Davide ; Schrag, Anette ; Anastasiou, Zacharias...
Neurology.  96 (2021)  12 - p. , 2021
Link: https://doi.org/10.1212/..
 
?
7

Delineating the motor phenotype of SGCE-myoclonus dystonia ..:

Vanegas, Maria I. ; Marcé-Grau, Anna ; Martí-Sánchez, Laura...
Parkinsonism & Related Disorders.  80 (2020)  - p. 165-174 , 2020
Link: https://doi.org/10.1016/..
 
?
8

PLA2G6-associated neurodegeneration: New insights into brai..:

Darling, Alejandra ; Aguilera-Albesa, Sergio ; Tello, Cristina Aisha...
Parkinsonism & Related Disorders.  61 (2019)  - p. 179-186 , 2019
Link: https://doi.org/10.1016/..
 
?
9

Diagnosis features of pediatric Gaucher disease patients in..:

Andrade-Campos, Marcio ; Alfonso, Pilar ; Irun, Pilar...
Orphanet Journal of Rare Diseases.  12 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
?
10

Clinical rating scale for pantothenate kinase-associated ne..:

Darling, Alejandra ; Tello, Cristina ; Martí, María Josep...
Movement Disorders.  32 (2017)  11 - p. 1620-1630 , 2017
Link: https://doi.org/10.1002/..
 
?
11

Somatic and germ‐line mosaicism of deletion 15q11.2–q13 in ..:

Sánchez, Javier ; Fernández, Raquel ; Madruga, Marcos...
American Journal of Medical Genetics Part A.  164 (2013)  2 - p. 370-376 , 2013
Link: https://doi.org/10.1002/..
 
?
12

Prognostic value of X-chromosome inactivation in symptomati..:

Juan-Mateu, Jonàs ; Rodríguez, Maria José ; Nascimento, Andrés...
Orphanet Journal of Rare Diseases.  7 (2012)  1 - p. , 2012
Link: https://doi.org/10.1186/..
 
?
13

Somatic mosaicism for Y120X mutation in the MECP2 gene caus..:

Pieras, Juan I ; Muñoz-cabello, Beatriz ; Borrego, Salud...
Brain and Development.  33 (2011)  7 - p. 608-611 , 2011
Link: https://doi.org/10.1016/..
 
?
14

Safety and efficacy of tamoxifen in boys with Duchenne musc..:

Henzi, Bettina C ; Schmidt, Simone ; Nagy, Sara...
The Lancet Neurology.  22 (2023)  10 - p. 890-899 , 2023
Link: https://doi.org/10.1016/..
 
?
15

Assessment of comorbidity and social anxiety in adolescents..:

Mardomingo Sanz, María Jesús ; Sancho Mateo, Carlos ; Soler López, Begoña...
Anales de Pediatría (English Edition).  90 (2019)  6 - p. 349-361 , 2019
Link: https://doi.org/10.1016/..
 
1-15