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The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, DiBacco ML, Arning E, Tsuboyama M, MacMullin P, Sachee D, Rotenberg A, Lee HHC, Aygun D, Opladen T, Jeltsch K, García-Cazorla À, Roullet JB, Gibson KM, Pearl PL. Tokatly Latzer I, et al. Among authors: opladen t. Epilepsia. 2023 Jun;64(6):1516-1526. doi: 10.1111/epi.17592. Epub 2023 Apr 4. Epilepsia. 2023. PMID: 36961285
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: opladen t. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Among authors: opladen t. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
Cerebral folate deficiency: a neurometabolic syndrome?
Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M. Mangold S, et al. Among authors: opladen t. Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14. Mol Genet Metab. 2011. PMID: 21737328
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R, Begemann M, Hübner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schröder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T. Meyer R, et al. Among authors: opladen t. Orphanet J Rare Dis. 2021 Jan 22;16(1):42. doi: 10.1186/s13023-021-01683-x. Orphanet J Rare Dis. 2021. PMID: 33482836 Free PMC article.
Tetrahydrobiopterin deficiency in human rabies.
Willoughby RE, Opladen T, Maier T, Rhead W, Schmiedel S, Hoyer J, Drosten C, Rupprecht CE, Hyland K, Hoffmann GF. Willoughby RE, et al. Among authors: opladen t. J Inherit Metab Dis. 2009 Feb;32(1):65-72. doi: 10.1007/s10545-008-0949-z. Epub 2008 Oct 25. J Inherit Metab Dis. 2009. PMID: 18949578
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
Meyburg J, Opladen T, Spiekerkötter U, Schlune A, Schenk JP, Schmidt J, Weitz J, Okun J, Bürger F, Omran TB, Abdoh G, Al Rifai H, Monavari A, Konstantopoulou V, Kölker S, Yudkoff M, Hoffmann GF. Meyburg J, et al. Among authors: opladen t. J Inherit Metab Dis. 2018 Jan;41(1):81-90. doi: 10.1007/s10545-017-0097-4. Epub 2017 Oct 12. J Inherit Metab Dis. 2018. PMID: 29027067 Clinical Trial.
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