Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer M, Bürer C, Ješina P, Kožich V, Landolt M, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla A, Noss J, Parini R, Peters H, Plecko B, Ramos F, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner M
J INHERIT METAB DIS. 2015;38(5):957-967.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Park J, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden A, Reunert J, Schlingmann K, Boycott K, Beaulieu C, Mhanni A, Innes A, Hörtnagel K, Biskup S, Gleixner E, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert D, Rust S, Marquardt T
AM J HUM GENET. 2015;97(6):894-903.

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 C, Beil F, Pestka J, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch T, Teti A, Schulz A, Schinke T, Amling M
J BONE MINER RES. 2014;29(4):982-91.

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
J INVEST DERMATOL. 2014;134(8):2146-2153.

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R
LIVER TRANSPLANT. 2014;20(4):464-72.

Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl T, Tsiakas K, Mühlhausen C, Santer R, C W, Dr. von der Wense A, Singer D
Z GEBURTSH NEONATOL . 2014;218(06):269-270.

Cantú syndrome is caused by mutations in ABCC9
van Bon B, Gilissen C, Grange D, Hennekam R, Kayserili H, Engels H, Reutter H, Ostergaard J, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman J, Robertson S, Brunner H, de Vries B, Hoischen A
AM J HUM GENET. 2012;90(6):1094-101.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K, Nuoffer J, Mühlhausen C, Klaus V, Largiadèr C, Tsiakas K, Santer R, Wermuth B, Häberle J
MOL GENET METAB. 2008;94(3):292-297.

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Spinazzola A, Santer R, Akman O, Tsiakas K, Schaefer H, Ding X, Karadimas C, Shanske S, Ganesh J, Salvatore D, Zeviani M
ARCH NEUROL-CHICAGO. 2008;65(8):1108-1113.

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschütter A, Ullrich K, Braulke T
GLYCOBIOLOGY. 2004;14(4):.

Retroviral vectors pseudotyped with lymphocytic choriomeningitis virus.
Miletic H, Bruns M, Tsiakas K, Vogt B, Rezai R, Baum C, Kühlke K, Cosset F, Ostertag W, Lother H, von Laer D
J VIROL. 1999;73(7):6114-6116.

Letzte Aktualisierung aus dem FIS: 17.07.2017 - 00:03 Uhr