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Juliá-Palacios, Natalia
541  Ergebnisse:
Personensuche X
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1

Clinical and molecular outcomes from the 5-Year natural his..:

Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Afshar-Saber, Wardiya...
Journal of Neurodevelopmental Disorders.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Consensus guidelines for the diagnosis and management of su..:

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; Blau, Nenad...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108363 , 2024
Link: https://doi.org/10.1016/..
 
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3

L-serine treatment in patients with GRIN-related encephalop..:

Juliá-Palacios, Natalia ; Olivella, Mireia ; Sigatullina Bondarenko, Mariya...
Brain.  147 (2024)  5 - p. 1653-1666 , 2024
Link: https://doi.org/10.1093/..
 
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4

Mutations of GEMIN5 are associated with coenzyme Q10 defici..:

Cascajo-Almenara, Marivi V. ; Juliá-Palacios, Natalia. ; Urreizti, Roser...
European Journal of Human Genetics.  32 (2024)  4 - p. 426-434 , 2024
Link: https://doi.org/10.1038/..
 
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5

COMPREHENSIVE DELINEATION AND PRECISION MEDICINE OF GRIN-RE..:

Olivella, Mireia ; Santos-Gómez, Ana ; Juliá-Palacios, Natalia...
IBRO Neuroscience Reports.  15 (2023)  - p. S71 , 2023
Link: https://doi.org/10.1016/..
 
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6

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  3 - p. 107624 , 2023
Link: https://doi.org/10.1016/..
 
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7

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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8

ATP2B2 de novo variants as a cause of variable neurodevelop..:

Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea...
Genetics in Medicine.  25 (2023)  12 - p. 100971 , 2023
Link: https://doi.org/10.1016/..
 
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9

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107647 , 2023
Link: https://doi.org/10.1016/..
 
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10

Phenotypic correlates of structural and functional protein ..:

Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Cesaro, Samuele...
Human Genetics.  142 (2023)  12 - p. 1755-1776 , 2023
Link: https://doi.org/10.1007/..
 
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11

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysi..:

Santos-Gómez, Ana ; Miguez-Cabello, Federico ; Juliá-Palacios, Natalia...
International Journal of Molecular Sciences.  22 (2021)  23 - p. 12656 , 2021
Link: https://doi.org/10.3390/..
 
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12

U-IMD: the first Unified European registry for inherited me..:

Opladen, Thomas ; Gleich, Florian ; Kozich, Viktor...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency:

Paredes-Fuentes, Abraham J ; Julià-Palacios, Natalia A ; Montero, Raquel...
Clinical Chemistry.  66 (2020)  11 - p. 1465-1467 , 2020
Link: https://doi.org/10.1093/..
 
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14

Impairment of the mitochondrial one-carbon metabolism enzym..:

García-Cazorla, Àngels ; Verdura, Edgard ; Juliá-Palacios, Natalia...
Acta Neuropathologica.  140 (2020)  6 - p. 971-975 , 2020
Link: https://doi.org/10.1007/..
 
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15

Disease-associated GRIN protein truncating variants trigger..:

Santos-Gómez, Ana ; Miguez-Cabello, Federico ; García-Recio, Adrián...
Human Molecular Genetics.  29 (2020)  24 - p. 3859-3871 , 2020
Link: https://doi.org/10.1093/..
 
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