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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. Ahting U, et al. Among authors: prokisch h. Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015. Front Genet. 2015. PMID: 25918518 Free PMC article.
MitoP2, an integrated database on mitochondrial proteins in yeast and man.
Andreoli C, Prokisch H, Hörtnagel K, Mueller JC, Münsterkötter M, Scharfe C, Meitinger T. Andreoli C, et al. Among authors: prokisch h. Nucleic Acids Res. 2004 Jan 1;32(Database issue):D459-62. doi: 10.1093/nar/gkh137. Nucleic Acids Res. 2004. PMID: 14681457 Free PMC article.
Proteome analysis of mitochondrial outer membrane from Neurospora crassa.
Schmitt S, Prokisch H, Schlunck T, Camp DG 2nd, Ahting U, Waizenegger T, Scharfe C, Meitinger T, Imhof A, Neupert W, Oefner PJ, Rapaport D. Schmitt S, et al. Among authors: prokisch h. Proteomics. 2006 Jan;6(1):72-80. doi: 10.1002/pmic.200402084. Proteomics. 2006. PMID: 16294304
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
395 results