Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 2
2021 3
2022 3
2023 5
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: paredes fuentes aj. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC article.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R. Bellusci M, et al. Among authors: paredes fuentes aj. Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590. Genes (Basel). 2021. PMID: 34680984 Free PMC article.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R. Castilla-Vallmanya L, et al. Among authors: paredes fuentes aj. J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690. Epub 2022 Sep 7. J Med Genet. 2023. PMID: 36243518 Free PMC article.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R. Cascajo-Almenara MV, et al. Among authors: paredes fuentes aj. Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316953
Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Pajares-García S, González de Aledo-Castillo JM, Flores-Jiménez JE, Collado T, Pérez J, Paredes-Fuentes AJ, Argudo-Ramírez A, López-Galera RM, Prats B, García-Villoria J. Pajares-García S, et al. Clin Chem Lab Med. 2023 Oct 6;62(3):493-505. doi: 10.1515/cclm-2023-0216. Print 2024 Feb 26. Clin Chem Lab Med. 2023. PMID: 37794778
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples.
Paredes-Fuentes AJ, Montero R, Codina A, Jou C, Fernández G, Maynou J, Santos-Ocaña C, Riera J, Navas P, Drobnic F, Artuch R. Paredes-Fuentes AJ, et al. Antioxidants (Basel). 2020 Oct 13;9(10):979. doi: 10.3390/antiox9100979. Antioxidants (Basel). 2020. PMID: 33066002 Free PMC article.
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.
Paredes-Fuentes AJ, Cesar S, Montero R, Latre C, Genovès J, Martorell L, Cuadras D, Colom H, Pineda M, Del Mar O'Callaghan M, Sarquella-Brugada G, Darling A, Artuch R. Paredes-Fuentes AJ, et al. Biomed Pharmacother. 2021 Nov;143:112143. doi: 10.1016/j.biopha.2021.112143. Epub 2021 Sep 8. Biomed Pharmacother. 2021. PMID: 34507114 Free article.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S, Paredes-Fuentes AJ, Badosa C, Codina A, Montoya J, Ruiz-Pesini E, Jou C, Garrabou G, Grau-Junyent JM, Yubero D, Montero R, Muchart J, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Català A, Garcia-Cazorla À, Jimenez-Mallebrera C, Artuch R. Trifunov S, et al. Among authors: paredes fuentes aj. Clin Chem. 2021 Aug 5;67(8):1113-1121. doi: 10.1093/clinchem/hvab091. Clin Chem. 2021. PMID: 34352085
12 results