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

Text availability

Article attribute

Article type

Publication date

Search Results

252 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A. Planas-Serra L, et al. J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957. J Clin Invest. 2023. PMID: 36951944 Free PMC article.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J. del Mar O'Callaghan M, et al. Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0. Epub 2012 May 26. Neurogenetics. 2012. PMID: 22638997
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group. Montero R, et al. Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11. Mitochondrion. 2013. PMID: 23583954
Neuromuscular Manifestations in Mitochondrial Diseases in Children.
Nascimento A, Ortez C, Jou C, O'Callaghan M, Ramos F, Garcia-Cazorla À. Nascimento A, et al. Semin Pediatr Neurol. 2016 Nov;23(4):290-305. doi: 10.1016/j.spen.2016.11.004. Epub 2016 Nov 9. Semin Pediatr Neurol. 2016. PMID: 28284391 Review.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, García-Cazorla À, Juliá-Palacios N, Morales-Ballús M. Del-Prado-Sánchez C, et al. Ophthalmic Genet. 2020 Dec;41(6):656-658. doi: 10.1080/13816810.2020.1821382. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940098
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH; SHMT2 Working Group; Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A. García-Cazorla À, et al. Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5. Acta Neuropathol. 2020. PMID: 33015733 Free PMC article. No abstract available.
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche-Serra S, García-Díaz R, Soto-Insuga V, Guerrero-López R, Juliá-Palacios N, Ciruela F, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Hum Mol Genet. 2021 Feb 25;29(24):3859-3871. doi: 10.1093/hmg/ddaa220. Hum Mol Genet. 2021. PMID: 33043365
Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency.
Paredes-Fuentes AJ, Julià-Palacios NA, Montero R, Yubero D, Cascajo-Almenara MV, García-Cazorla À, Santos-Ocaña C, Artuch R. Paredes-Fuentes AJ, et al. Clin Chem. 2020 Nov 1;66(11):1465-1467. doi: 10.1093/clinchem/hvaa202. Clin Chem. 2020. PMID: 33141909 No abstract available.
252 results