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Year Number of Results
2014 1
2015 7
2016 8
2017 6
2018 7
2019 9
2020 2
2021 3
2022 4
2024 0

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38 results

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Page 1
Rare diseases and space health: optimizing synergies from scientific questions to care.
Puscas M, Martineau G, Bhella G, Bonnen PE, Carr P, Lim R, Mitchell J, Osmond M, Urquieta E, Flamenbaum J, Iaria G, Joly Y, Richer É, Saary J, Saint-Jacques D, Buckley N, Low-Decarie E. Puscas M, et al. NPJ Microgravity. 2022 Dec 22;8(1):58. doi: 10.1038/s41526-022-00224-5. NPJ Microgravity. 2022. PMID: 36550172 Free PMC article. Review.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Alston CL, et al. Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19. Am J Hum Genet. 2020. PMID: 31866046 Free PMC article.
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M. Johnson JL, et al. Neuron. 2019 Nov 20;104(4):665-679.e8. doi: 10.1016/j.neuron.2019.08.027. Epub 2019 Oct 1. Neuron. 2019. PMID: 31585809 Free PMC article.
38 results