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Page 1
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: mayr ja. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
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: mayr ja. 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
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H. Haack TB, et al. Among authors: mayr ja. J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846. J Med Genet. 2012. PMID: 22499348
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H. Haack TB, et al. Among authors: mayr ja. J Inherit Metab Dis. 2013 Jan;36(1):55-62. doi: 10.1007/s10545-012-9489-7. Epub 2012 May 5. J Inherit Metab Dis. 2013. PMID: 22562699
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H. Haack TB, et al. Among authors: mayr ja. J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3. J Inherit Metab Dis. 2012. PMID: 22864630 Free PMC article.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P. Haack TB, et al. Among authors: mayr ja. Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25. Mol Genet Metab. 2014. PMID: 24461907
207 results