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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: makowski c. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
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: makowski c. 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.
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: makowski c. Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015. Front Genet. 2015. PMID: 25918518 Free PMC article.
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA. Feichtinger RG, et al. Among authors: makowski c. Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19. Oxid Med Cell Longev. 2017. PMID: 28804536 Free PMC article.
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Õunap K. Puusepp S, et al. Among authors: makowski c. Eur J Hum Genet. 2018 Mar;26(3):407-419. doi: 10.1038/s41431-017-0001-6. Epub 2018 Jan 17. Eur J Hum Genet. 2018. PMID: 29343804 Free PMC article.
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J. Alhaddad B, et al. Among authors: makowski c. Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25. Neuropediatrics. 2018. PMID: 29940663
119 results