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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5.
Neurology. 2023.
PMID: 37407264
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group.
Pechmann A, et al.
Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252.
Brain. 2023.
PMID: 35857854
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Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism.
Sauer SW, Okun JG, Hoffmann GF, Koelker S, Morath MA.
Sauer SW, et al. Among authors: koelker s.
Biochim Biophys Acta. 2008 Oct;1777(10):1276-82. doi: 10.1016/j.bbabio.2008.05.447. Epub 2008 Jun 3.
Biochim Biophys Acta. 2008.
PMID: 18582432
Free article.
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Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.
Niiyama S, Koelker S, Degen I, Hoffmann GF, Happle R, Hoffmann R.
Niiyama S, et al. Among authors: koelker s.
Eur J Dermatol. 2001 May-Jun;11(3):244-6.
Eur J Dermatol. 2001.
PMID: 11358733
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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium; Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A.
Schorling DC, et al.
Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4.
Eur J Neurol. 2022.
PMID: 35318785
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The incidence of urea cycle disorders.
Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/.
Summar ML, et al. Among authors: koelker s.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.
Mol Genet Metab. 2013.
PMID: 23972786
Free PMC article.
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H.
Cullup T, et al. Among authors: koelker s.
Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.
Nat Genet. 2013.
PMID: 23222957
Free PMC article.
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