Prokisch H - Search Results

1

Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.

Neuhofer CM, Prokisch H. Neuhofer CM, et al. Among authors: prokisch h. Int J Mol Sci. 2024 Apr 23;25(9):4602. doi: 10.3390/ijms25094602. Int J Mol Sci. 2024. PMID: 38731822 Free PMC article. Review.

2

MitoP2, an integrated database for mitochondrial proteins.

Prokisch H, Ahting U. Prokisch H, et al. Methods Mol Biol. 2007;372:573-86. doi: 10.1007/978-1-59745-365-3_39. Methods Mol Biol. 2007. PMID: 18314752

3

Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.

Kremer LS, Prokisch H. Kremer LS, et al. Among authors: prokisch h. Methods Mol Biol. 2017;1567:391-406. doi: 10.1007/978-1-4939-6824-4_24. Methods Mol Biol. 2017. PMID: 28276032

4

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group. Stendel C, et al. Among authors: prokisch h. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042921 Free PMC article.

5

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N. Kortüm F, et al. Among authors: prokisch h. Int J Mol Sci. 2021 Jan 16;22(2):850. doi: 10.3390/ijms22020850. Int J Mol Sci. 2021. PMID: 33467000 Free PMC article.

6

Genetic basis of mitochondrial diseases.

Gusic M, Prokisch H. Gusic M, et al. Among authors: prokisch h. FEBS Lett. 2021 Apr;595(8):1132-1158. doi: 10.1002/1873-3468.14068. Epub 2021 Mar 21. FEBS Lett. 2021. PMID: 33655490 Free article. Review.

7

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Friederich MW, et al. Among authors: prokisch h. Mol Genet Metab. 2021 Aug;133(4):362-371. doi: 10.1016/j.ymgme.2021.06.001. Epub 2021 Jun 10. Mol Genet Metab. 2021. PMID: 34140213 Free PMC article.

8

Mitochondrial Disorders.

Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H. Klopstock T, et al. Among authors: prokisch h. Dtsch Arztebl Int. 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. Dtsch Arztebl Int. 2021. PMID: 34158150 Free PMC article. Review.

9

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U. Braun F, et al. Among authors: prokisch h. Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835. Int J Mol Sci. 2021. PMID: 34360601 Free PMC article.

10

Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.

Elstner M, Olszewski K, Prokisch H, Klopstock T, Murgia M. Elstner M, et al. Among authors: prokisch h. Int J Mol Sci. 2021 Oct 14;22(20):11080. doi: 10.3390/ijms222011080. Int J Mol Sci. 2021. PMID: 34681740 Free PMC article.

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