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244 results

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Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM. Koch J, et al. Among authors: sperl w. Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5. Orphanet J Rare Dis. 2015. PMID: 25887401 Free PMC article.
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. Among authors: sperl w. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Among authors: sperl w. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.
Mayr JA, Meierhofer D, Zimmermann F, Feichtinger R, Kögler C, Ratschek M, Schmeller N, Sperl W, Kofler B. Mayr JA, et al. Among authors: sperl w. Clin Cancer Res. 2008 Apr 15;14(8):2270-5. doi: 10.1158/1078-0432.CCR-07-4131. Clin Cancer Res. 2008. PMID: 18413815
244 results