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Ruiz, Montserrat
2971  Ergebnisse:
Personensuche X
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1

Imbalanced mitochondrial dynamics contributes to the pathog..:

Launay, Nathalie ; Lopez-Erauskin, Jone ; Bianchi, Patrizia...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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2

ClinPrior: an algorithm for diagnosis and novel gene discov..:

Schlüter, Agatha ; Vélez-Santamaría, Valentina ; Verdura, Edgard...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

Frequency and phenotypic spectrum of spinocerebellar ataxia..:

Iruzubieta, Pablo ; Pellerin, David ; Bergareche, Alberto...
European Journal of Neurology.  30 (2023)  12 - p. 3828-3833 , 2023
Link: https://doi.org/10.1111/..
 
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4

Multisystem inflammatory syndrome in children and SARS-CoV-..:

Pino, Rosa ; Antoñanzas, Jesús M. ; Paredes-Carmona, Fernando...
European Journal of Pediatrics.  182 (2023)  4 - p. 1897-1909 , 2023
Link: https://doi.org/10.1007/..
 
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5

Adsorption of neodymium, terbium and dysprosium using a syn..:

Javadian, Hamedreza ; Taghavi, Mehdi ; Ruiz, Montserrat...
Journal of Rare Earths.  41 (2023)  11 - p. 1796-1804 , 2023
Link: https://doi.org/10.1016/..
 
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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/..
 
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7

RINT1 deficiency disrupts lipid metabolism and underlies a ..:

Launay, Nathalie ; Ruiz, Montserrat ; Planas-Serra, Laura...
Journal of Clinical Investigation.  133 (2023)  14 - p. , 2023
Link: https://doi.org/10.1172/..
 
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8

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/..
 
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9

Loss of seryl-tRNA synthetase (SARS1) causes complex spasti..:

Verdura, Edgard ; Senger, Bruno ; Raspall-Chaure, Miquel...
Journal of Medical Genetics.  59 (2022)  12 - p. 1227-1233 , 2022
Link: https://doi.org/10.1136/..
 
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10

Activating cannabinoid receptor 2 preserves axonal health t..:

Parameswaran, Janani ; Goicoechea, Leire ; Planas-Serra, Laura...
Acta Neuropathologica.  144 (2022)  2 - p. 241-258 , 2022
Link: https://doi.org/10.1007/..
 
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11

Diagnosis of Genetic White Matter Disorders by Singleton Wh..:

Schlüter, Agatha ; Rodríguez-Palmero, Agustí ; Verdura, Edgard...
Neurology.  98 (2022)  9 - p. , 2022
Link: https://doi.org/10.1212/..
 
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12

Epigenetic profiling linked to multisystem inflammatory syn..:

Davalos, Veronica ; García-Prieto, Carlos A. ; Ferrer, Gerardo...
eClinicalMedicine.  50 (2022)  - p. 101515 , 2022
Link: https://doi.org/10.1016/..
 
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13

Biallelic PI4KA variants cause a novel neurodevelopmental s..:

Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina...
Brain.  144 (2021)  9 - p. 2659-2669 , 2021
Link: https://doi.org/10.1093/..
 
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14

Modulation of mitochondrial and inflammatory homeostasis th..:

Ranea‐Robles, Pablo ; Galino, Jorge ; Espinosa, Lluís...
Neuropathology and Applied Neurobiology.  48 (2021)  1 - p. , 2021
Link: https://doi.org/10.1111/..
 
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15

Epigenome-wide association study of COVID-19 severity with ..:

Castro de Moura, Manuel ; Davalos, Veronica ; Planas-Serra, Laura...
eBioMedicine.  66 (2021)  - p. 103339 , 2021
Link: https://doi.org/10.1016/..
 
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