E-LIB Suche - Ergebnisse für: Pineda, Mercè

1

iPSC‐based modeling of THD recapitulates disease phenotypes..:

Tristán‐Noguero, Alba ; Fernández‐Carasa, Irene ; Calatayud, Carles...
EMBO Molecular Medicine. 15 (2023) 3 - p. , 2023

2

Description of the molecular and clinical characteristics o..:

Gónzalez-Meneses, Antonio ; Pineda, Mercè ; Bandeira, Anabela...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

3

IQSEC2 disorder: A new disease entity or a Rett spectrum co..:

Lopergolo, Diego ; Privitera, Flavia ; Castello, Giuseppe...
Clinical Genetics. 99 (2021) 3 - p. 462-474 , 2021

Link: https://doi.org/10.1111/..

4

Author Correction: The utility of Next Generation Sequencin..:

Vidal, Silvia ; Brandi, Núria ; Pacheco, Paola...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

5

Plasma idebenone monitoring in Friedreich's ataxia patients..:

Paredes-Fuentes, Abraham J. ; Cesar, Sergi ; Montero, Raquel...
Biomedicine & Pharmacotherapy. 143 (2021) - p. 112143 , 2021

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

6

Comprehensive Analysis of GABAA-A1R Developmental Alteratio..:

Oyarzabal, Alfonso ; Xiol, Clara ; Castells, Alba Aina...
International Journal of Molecular Sciences. 21 (2020) 2 - p. 518 , 2020

Link: https://doi.org/10.3390/..

7

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal St..:

Pereira, Catia S. ; Pérez-Cabezas, Begoña ; Ribeiro, Helena...
Frontiers in Immunology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

8

X chromosome inactivation does not necessarily determine th..:

Xiol, Clara ; Vidal, Silvia ; Pascual-Alonso, Ainhoa...
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

9

Plasma coenzyme Q10 status is impaired in selected genetic ..:

Montero, Raquel ; Yubero, Delia ; Salgado, Maria C....
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

10

Final results of the phase 1/2, open-label clinical study o..:

Whitley, Chester B. ; Vijay, Suresh ; Yao, Bert...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. 131-138 , 2019

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

11

Mutational spectrum by phenotype: panel‐based NGS testing o..:

Castellanos, Elisabeth ; Rosas, Inma ; Negro, Alex...
Clinical Genetics. 97 (2019) 2 - p. 264-275 , 2019

Link: https://doi.org/10.1111/..

12

Characterization of large deletions of the MECP2 gene in Re..:

Vidal, Silvia ; Pascual‐Alonso, Ainhoa ; Rabaza‐Gairí, Marc...
Molecular Genetics & Genomic Medicine. 7 (2019) 8 - p. , 2019

Link: https://doi.org/10.1002/..

13

Genetic Landscape of Rett Syndrome Spectrum: Improvements a..:

Vidal, Silvia ; Xiol, Clara ; Pascual-Alonso, Ainhoa...
International Journal of Molecular Sciences. 20 (2019) 16 - p. 3925 , 2019

Link: https://doi.org/10.3390/..

14

The International Niemann-Pick Disease Registry (INPDR) - A..:

Imrie, Jackie ; Pineda, Merce ; Coll, Maria Jose...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S68 , 2018

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

15

Miglustat in Niemann-Pick disease type C patients: a review:

Pineda, Mercè ; Walterfang, Mark ; Patterson, Marc C.
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..