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
2015 1
2016 3
2017 3
2018 5
2019 9
2020 5
2021 6
2022 8
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Results by year

Filters applied: . Clear all
Page 1
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: bris c. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging.
Bobba-Alves N, Sturm G, Lin J, Ware SA, Karan KR, Monzel AS, Bris C, Procaccio V, Lenaers G, Higgins-Chen A, Levine M, Horvath S, Santhanam BS, Kaufman BA, Hirano M, Epel E, Picard M. Bobba-Alves N, et al. Among authors: bris c. Psychoneuroendocrinology. 2023 Sep;155:106322. doi: 10.1016/j.psyneuen.2023.106322. Epub 2023 Jun 14. Psychoneuroendocrinology. 2023. PMID: 37423094 Free PMC article.
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Sturm G, Karan KR, Monzel AS, Santhanam B, Taivassalo T, Bris C, Ware SA, Cross M, Towheed A, Higgins-Chen A, McManus MJ, Cardenas A, Lin J, Epel ES, Rahman S, Vissing J, Grassi B, Levine M, Horvath S, Haller RG, Lenaers G, Wallace DC, St-Onge MP, Tavazoie S, Procaccio V, Kaufman BA, Seifert EL, Hirano M, Picard M. Sturm G, et al. Among authors: bris c. Commun Biol. 2023 Jan 12;6(1):22. doi: 10.1038/s42003-022-04303-x. Commun Biol. 2023. PMID: 36635485 Free PMC article.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H. Zech M, et al. Among authors: bris c. Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20. Ann Neurol. 2022. PMID: 34954817 Free PMC article.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: bris c. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K, Foulonneau T, Amati-Bonneau P, Charif M, Colin E, Bris C, Desquiret-Dumas V, Milea D, Gohier P, Procaccio V, Bonneau D, den Dunnen JT, Lenaers G, Reynier P, Ferré M. Guehlouz K, et al. Among authors: bris c. Sci Data. 2021 Aug 5;8(1):205. doi: 10.1038/s41597-021-00984-x. Sci Data. 2021. PMID: 34354088 Free PMC article.
First characterization of LHON pedigrees in North Africa.
Bouzidi A, Aboussair N, Charif M, Amalou G, Goudenège D, Desquiret-Dumas V, Bris C, Sifeddine N, Nahili H, Elqabli M, Dafir K, Kandil M, Amati-Bonneau P, Procaccio V, Barakat A, Lenaers G. Bouzidi A, et al. Among authors: bris c. Eye (Lond). 2020 Nov;34(11):2138-2139. doi: 10.1038/s41433-019-0755-x. Epub 2020 Jan 2. Eye (Lond). 2020. PMID: 31896800 Free PMC article. No abstract available.
38 results