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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: santer r. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Grünert SC, et al. Among authors: santer r. Orphanet J Rare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6. Orphanet J Rare Dis. 2013. PMID: 23305374 Free PMC article.
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M. Barvencik F, et al. Among authors: santer r. J Bone Miner Res. 2014 Apr;29(4):982-91. doi: 10.1002/jbmr.2100. J Bone Miner Res. 2014. PMID: 24108692 Free article.
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F. Fortugno P, et al. Among authors: santer r. J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577405 Free article.
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: santer r. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.
[Neonatal metabolic imbalance -- hyperventilation in hyperammonemia].
Kehl TM, Tsiakas K, Mühlhausen C, Santer R, Walter C, von der Wense A, Singer D. Kehl TM, et al. Among authors: santer r. Z Geburtshilfe Neonatol. 2014 Dec;218(6):269-70. doi: 10.1055/s-0034-1397403. Z Geburtshilfe Neonatol. 2014. PMID: 25658011 German. No abstract available.
TMEM165 Deficiency: Postnatal Changes in Glycosylation.
Schulte Althoff S, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T. Schulte Althoff S, et al. Among authors: santer r. JIMD Rep. 2016;26:21-9. doi: 10.1007/8904_2015_455. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238249 Free PMC article.
318 results