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Emperador, Sonia
102  Ergebnisse:
Personensuche X
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1

Identification and characterization of a new pathologic mut..:

Emperador, Sonia ; Habbane, Mouna ; López-Gallardo, Ester...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

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/..
 
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3

Development and characterization of cell models harbouring ..:

Hernández-Ainsa, Carmen ; López-Gallardo, Ester ; García-Jiménez, María Concepción...
Disease Models & Mechanisms.  15 (2022)  3 - p. , 2022
Link: https://doi.org/10.1242/..
 
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4

Generation of an induced pluripotent stem cell line from a ..:

Hernández-Ainsa, Carmen ; Nascimento, Andrés ; Jou, Cristina...
Stem Cell Research.  59 (2022)  - p. 102632 , 2022
Link: https://doi.org/10.1016/..
 
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5

Is population frequency a useful criterion to assign pathog..:

Bayona-Bafaluy, M. Pilar ; López-Gallardo, Ester ; Emperador, Sonia...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Toxic and nutritional factors trigger Leber hereditary opti..:

Vela‐Sebastián, Ana ; López‐Gallardo, Ester ; Emperador, Sonia...
Clinical Genetics.  102 (2022)  4 - p. 339-344 , 2022
Link: https://doi.org/10.1111/..
 
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7

Human Mitochondrial DNA: Particularities and Diseases:

Habbane, Mouna ; Montoya, Julio ; Rhouda, Taha...
Biomedicines.  9 (2021)  10 - p. 1364 , 2021
Link: https://doi.org/10.3390/..
 
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8

Mitochondrial DNA pathogenic mutations in multiple symmetri..:

López‐Gallardo, Ester ; Cammarata‐Scalisi, Francisco ; Emperador, Sonia...
Clinical Genetics.  97 (2020)  5 - p. 731-735 , 2020
Link: https://doi.org/10.1111/..
 
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9

Genetic aspects of the oxidative phosphorylation dysfunctio..:

Bayona-Bafaluy, M.Pilar ; Iglesias, Eldris ; López-Gallardo, Ester...
Mutation Research/Reviews in Mutation Research.  786 (2020)  - p. 108334 , 2020
Link: https://doi.org/10.1016/..
 
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10

Oxidative Phosphorylation Dysfunction Modifies the Cell Sec..:

Garrido-Pérez, Nuria ; Vela-Sebastián, Ana ; López-Gallardo, Ester...
International Journal of Molecular Sciences.  21 (2020)  9 - p. 3374 , 2020
Link: https://doi.org/10.3390/..
 
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11

A novel mutation in the mitochondrial MT-ND5 gene in a fami..:

Panadés-de Oliveira, Luísa ; Montoya, Julio ; Emperador, Sonia...
Mitochondrion.  50 (2020)  - p. 14-18 , 2020
Link: https://doi.org/10.1016/..
 
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12

Molecular Characterization of New FBXL4 Mutations in Patien..:

Emperador, Sonia ; Garrido-Pérez, Nuria ; Amezcua-Gil, Javier...
Frontiers in Genetics.  10 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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13

Infectious stress triggers a POLG-related mitochondrial dis..:

Gaudó, Paula ; Emperador, Sonia ; Garrido-Pérez, Nuria...
neurogenetics.  21 (2019)  1 - p. 19-27 , 2019
Link: https://doi.org/10.1007/..
 
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14

Whole sequence of the mitochondrial DNA genome of Kearns Sa..:

Saldaña-Martínez, Angélica ; Muñoz, María de Lourdes ; Pérez-Ramírez, Gerardo...
Gene.  688 (2019)  - p. 171-181 , 2019
Link: https://doi.org/10.1016/..
 
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15

Muscle Involvement in a Large Cohort of Pediatric Patients ..:

Jou, Cristina ; Ortigoza-Escobar, Juan D. ; O'Callaghan, Maria M....
Journal of Clinical Medicine.  8 (2019)  1 - p. 68 , 2019
Link: https://doi.org/10.3390/..
 
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