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Page 1
The molecular basis of aminoacylase 1 deficiency.
Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO. Sommer A, et al. Biochim Biophys Acta. 2011 Jun;1812(6):685-90. doi: 10.1016/j.bbadis.2011.03.005. Epub 2011 Mar 23. Biochim Biophys Acta. 2011. PMID: 21414403 Free article.
Aminoacylase 1 deficiency associated with autistic behavior.
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A. Tylki-Szymanska A, et al. Among authors: sommer a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S211-4. doi: 10.1007/s10545-010-9089-3. Epub 2010 May 18. J Inherit Metab Dis. 2010. PMID: 20480396
Alpha-1 antitrypsin inhibits pertussis toxin.
Lietz S, Sommer A, Sokolowski LM, Kling C, Rodriguez Alfonso AA, Preising N, Alpízar-Pedraza D, King J, Streit L, Schröppel B, van Erp R, Barth E, Schneider M, Münch J, Michaelis J, Ständker L, Wiese S, Barth H, Pulliainen AT, Scanlon K, Ernst K. Lietz S, et al. Among authors: sommer a. J Biol Chem. 2024 Oct 29:107950. doi: 10.1016/j.jbc.2024.107950. Online ahead of print. J Biol Chem. 2024. PMID: 39481600 Free article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Geometric Changes in Mitral Valve Apparatus during Long-term Cardiac Resynchronization Therapy as Assessed with Cardiac CT.
Fyenbo DB, Nørgaard BL, Blanke P, Sommer A, Duchscherer J, Kalk K, Kronborg MB, Jensen JM, McVeigh ER, Delgado V, Leipsic J, Nielsen JC. Fyenbo DB, et al. Among authors: sommer a. Radiol Cardiothorac Imaging. 2024 Oct;6(5):e230320. doi: 10.1148/ryct.230320. Radiol Cardiothorac Imaging. 2024. PMID: 39360929 Free PMC article. Clinical Trial.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Reply to Roman-Juan et al.
Grothus S, Sommer A, Stahlschmidt L, Hirschfeld G, Höfel L, Linder R, Zernikow B, Wager J. Grothus S, et al. Among authors: sommer a. Pain. 2024 Oct 1;165(10):2390-2391. doi: 10.1097/j.pain.0000000000003371. Pain. 2024. PMID: 39284045 No abstract available.
1,127 results