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 Custom Filters

Results by year

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

Year Number of Results
2014 2
2015 7
2016 8
2017 2
2018 5
2019 7
2020 6
2021 6
2022 7
2023 6
2024 7
2025 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

57 results

Results by year

Filters applied: . Clear all
Page 1
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: yubero d. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: yubero d. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: yubero d. Eur J Hum Genet. 2025 Mar;33(2):239-247. doi: 10.1038/s41431-024-01699-4. Epub 2024 Sep 27. Eur J Hum Genet. 2025. PMID: 39333429
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
Woolly hair in tricho-dento-osseous syndrome.
Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet-Llobet L, Ivars M, Yubero D, Sarig O, Malki L, Peled A, Sprecher E, Baselga E. Perandones-González H, et al. Among authors: yubero d. Pediatr Dermatol. 2023 Nov-Dec;40(6):1094-1096. doi: 10.1111/pde.15309. Epub 2023 Mar 27. Pediatr Dermatol. 2023. PMID: 36973173
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.
Minguez B, de Los Santos M, Garcia-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva C, Arias A, Rodriguez-Gonzalez H, Yubero D, Tondo M, Santos-Ocaña C, Meavilla S, Artuch R. Minguez B, et al. Among authors: yubero d. Antioxidants (Basel). 2024 Aug 9;13(8):966. doi: 10.3390/antiox13080966. Antioxidants (Basel). 2024. PMID: 39199213 Free PMC article.
Molecular diagnosis of coenzyme Q10 deficiency: an update.
Yubero D, Montero R, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Expert Rev Mol Diagn. 2018 Jun;18(6):491-498. doi: 10.1080/14737159.2018.1478290. Epub 2018 May 30. Expert Rev Mol Diagn. 2018. PMID: 29781757 Review.
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: yubero d. 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 Free PMC article.
NGS for Metabolic Disease Diagnosis.
Yubero D, Artuch R. Yubero D, et al. EJIFCC. 2018 Nov 7;29(3):227-229. eCollection 2018 Nov. EJIFCC. 2018. PMID: 30479609 Free PMC article. No abstract available.
57 results