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

385 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabě de Angelis M. Vidali S, et al. Among authors: prokisch h. EMBO Mol Med. 2021 Dec 7;13(12):e14397. doi: 10.15252/emmm.202114397. Epub 2021 Nov 8. EMBO Mol Med. 2021. PMID: 34750991 Free PMC article.
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: prokisch h. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A, Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch H, Klopstock T. Ahting U, et al. Among authors: prokisch h. Biochim Biophys Acta. 2009 May;1787(5):371-6. doi: 10.1016/j.bbabio.2008.12.001. Epub 2008 Dec 9. Biochim Biophys Acta. 2009. PMID: 19111522 Free article.
DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments.
Pham TT, Giesert F, Röthig A, Floss T, Kallnik M, Weindl K, Hölter SM, Ahting U, Prokisch H, Becker L, Klopstock T, Hrabé de Angelis M, Beyer K, Görner K, Kahle PJ, Vogt Weisenhorn DM, Wurst W. Pham TT, et al. Among authors: prokisch h. Genes Brain Behav. 2010 Apr;9(3):305-17. doi: 10.1111/j.1601-183X.2009.00559.x. Epub 2009 Dec 17. Genes Brain Behav. 2010. PMID: 20039949 Free article.
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Haack TB, et al. Among authors: prokisch h. Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7. Nat Genet. 2010. PMID: 21057504
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Haack TB, et al. Among authors: prokisch h. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26. J Med Genet. 2012. PMID: 22200994
385 results