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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Among authors: huemer m. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Huemer M, et al. J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14. J Inherit Metab Dis. 2015. PMID: 25868664 Free PMC article.
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Honzík T, et al. Among authors: huemer m. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A, Schaller A. Jackson CB, et al. Among authors: huemer m. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374. Hum Mol Genet. 2019. PMID: 30358850 Free article.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M, Hufgard-Leitner M, Kircher SG, Konstantopoulou V, Löscher W, Möslinger D, Plecko B, Spenger J, Stulnig T, Sunder-Plassmann G, Wortmann S, Scholl-Bürgi S, Karall D; Austrian IMD Registry Group. Ramoser G, et al. Among authors: huemer m. J Inherit Metab Dis. 2022 Mar;45(2):144-156. doi: 10.1002/jimd.12442. Epub 2021 Oct 17. J Inherit Metab Dis. 2022. PMID: 34595757 Free PMC article.
219 results