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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

54 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Correction: 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. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
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. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
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.
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
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D. Estévez-Arias B, et al. Among authors: yubero d. J Neuromuscul Dis. 2024;11(3):647-653. doi: 10.3233/JND-230216. J Neuromuscul Dis. 2024. PMID: 38489196 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: 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
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038 Free PMC article.
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
54 results