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Year Number of Results
2009 1
2010 1
2013 3
2014 3
2015 4
2016 4
2017 1
2018 1
2019 2
2020 2
2021 0
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17 results
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Page 1
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: schottmann g. 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.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yépez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rötig A, Rodenburg RJT, Wortmann SB, Prokisch H, Schuelke M. Gusic M, et al. Among authors: schottmann g. Am J Hum Genet. 2020 Jan 2;106(1):102-111. doi: 10.1016/j.ajhg.2019.12.005. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883641 Free PMC article.
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson SD, Schubert F, Deschauer M, Els A, Ittermann B, Schottmann G, Madai VI, Paul F, Klopstock T, Kmiec T, Niendorf T, Wuerfel J, Schneider SA. Dusek P, et al. Among authors: schottmann g. Mov Disord. 2020 Jan;35(1):142-150. doi: 10.1002/mds.27827. Epub 2019 Sep 13. Mov Disord. 2020. PMID: 31518459
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Haack TB, et al. Among authors: schottmann g. Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13. Ann Clin Transl Neurol. 2015. PMID: 26000322 Free PMC article.
Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study.
Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R. Kirschner J, et al. Among authors: schottmann g. Neuromuscul Disord. 2014 Feb;24(2):134-42. doi: 10.1016/j.nmd.2013.10.011. Epub 2013 Nov 13. Neuromuscul Disord. 2014. PMID: 24300782 Clinical Trial.
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