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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y. Iuso A, et al. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10. Am J Hum Genet. 2018. PMID: 29754768 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: braunisch mc. Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25. Neuropediatrics. 2018. PMID: 29940663
Mortality prediction in stable hemodialysis patients is refined by YKL-40, a 40-kDa glycoprotein associated with inflammation.
Lorenz G, Schmalenberg M, Kemmner S, Haller B, Steubl D, Pham D, Schreiegg A, Bachmann Q, Schmidt A, Haderer S, Huber M, Angermann S, Günthner R, Braunisch M, Hauser C, Reichelt AL, Matschkal J, Suttmann Y, Moog P, Stock K, Küchle C, Thürmel K, Renders L, Bauer A, Baumann M, Heemann U, Luppa PB, Schmaderer C. Lorenz G, et al. Kidney Int. 2018 Jan;93(1):221-230. doi: 10.1016/j.kint.2017.07.010. Epub 2017 Sep 21. Kidney Int. 2018. PMID: 28941940 Free article.
Acetate-free, citrate-acidified bicarbonate dialysis improves serum calcification propensity-a preliminary study.
Lorenz G, Mayer CC, Bachmann Q, Stryeck S, Braunisch MC, Haller B, Carbajo-Lozoya J, Schmidt A, Witthauer S, Abuzahu J, Kemmner S, Angermann S, Koneru N, Wassertheurer S, Bieber R, Heemann U, Madl T, Pasch A, Schmaderer C. Lorenz G, et al. Among authors: braunisch mc. Nephrol Dial Transplant. 2018 Nov 1;33(11):2043-2051. doi: 10.1093/ndt/gfy134. Nephrol Dial Transplant. 2018. PMID: 29860419
Association of Ambulatory Blood Pressure with All-Cause and Cardiovascular Mortality in Hemodialysis Patients: Effects of Heart Failure and Atrial Fibrillation.
Mayer CC, Matschkal J, Sarafidis PA, Hagmair S, Lorenz G, Angermann S, Braunisch MC, Baumann M, Heemann U, Wassertheurer S, Schmaderer C. Mayer CC, et al. Among authors: braunisch mc. J Am Soc Nephrol. 2018 Sep;29(9):2409-2417. doi: 10.1681/ASN.2018010086. Epub 2018 Jul 25. J Am Soc Nephrol. 2018. PMID: 30045925 Free PMC article.
Cognitive Impairment is Associated with Mortality in Hemodialysis Patients.
Angermann S, Schier J, Baumann M, Steubl D, Hauser C, Lorenz G, Günthner R, Braunisch MC, Kemmner S, Satanovskij R, Haller B, Heemann U, Lehnert T, Bieber R, Pachmann M, Braun J, Scherf J, Schätzle G, Fischereder M, Grimmer T, Schmaderer C. Angermann S, et al. Among authors: braunisch mc. J Alzheimers Dis. 2018;66(4):1529-1537. doi: 10.3233/JAD-180767. J Alzheimers Dis. 2018. PMID: 30412499
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