Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study
Inhestern L, Otto R, Brandt M, Zybarth D, Oheim R, Schüler H, Mir T, Tsiakas K, Dibaj P, Zschüntzsch J, Okun P, Hegenbart U, Sommerburg O, Schramm C, Weiler-Normann C, Härter M, Bergelt C
ORPHANET J RARE DIS. 2024;19(1):197.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira L, Dallabona C, Swanson M, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence N, Magistrati M, Spector E, Kronquist K, Christensen M, Karstensen H, Feichtinger R, Achleitner M, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela A, Julve N, Arnoux J, Haldar K, Donnini C, Santer R, Lund A, Mayr J, Rodriguez-Pombo P, Van Hove J
HUM MOL GENET. 2023;32(6):917-933.

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Murko S, Peschka M, Tsiakas K, Schulz-Jürgensen S, Herden U, Santer R
MOL GENET METAB REP. 2023;35:100977.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park J, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund S, Andersen P
BRAIN COMMUN. 2023;5(1):fcad017.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr J, Hempel M, Wittig I
MOL GENET METAB. 2023;140(3):107675.

Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel E, von Kroge S, Matthies L, Köhne T, Petz K, Beikler T, Schmid-Herrmann C, Kahl-Nieke B, Tsiakas K, Santer R, Muschol N, Herrmann J, Busse B, Amling M, Rolvien T, Jandl N, Barvencik F
CALCIFIED TISSUE INT. 2023;112(3):308-319.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann G, Haas D
J INHERIT METAB DIS. 2021;44(5):1272-1287.

Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Dulz S, Atiskova Y, Engel P, Wildner J, Tsiakas K, Santer R
OPHTHALMIC GENET. 2021;42(1):23-27.

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
Grünert S, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, Tucci S, Spiekerkoetter U
J INHERIT METAB DIS. 2021;44(4):893-902.

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Grünert S, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R
GENES-BASEL. 2021;12(11):.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen P, Nordström U, Tsiakas K, Johannsen J, Volk A, Bierhals T, Zetterström P, Marklund S, Hempel M, Santer R
NEW ENGL J MED. 2019;381(5):486-488.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih J, Gulec E, Yesil G, Punetha J, Ocak Z, Grochowski C, Karaca E, Albayrak H, Radhakrishnan P, Erdem H, Sahin I, Yildirim T, Bayhan I, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani S, Doddapaneni H, Hu J, Muzny D, , Boerwinkle E, Gibbs R, Tsiakas K, Hempel M, Girisha K, Gul D, Posey J, Elcioglu N, Tuysuz B, Lupski J
AM J HUM GENET. 2019;105(1):132-150.

Recessive mutations in >VPS13D cause childhood-onset movement disorders
Gauthier J, Meijer I, Lessel D, Mencacci N, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm M, Rodan L, Karamchandani J, Carecchio M, Lubbe S, Telegrafi A, Henderson L, Lorenzo K, Wallace S, Glass I, Hamdan F, Michaud J, Rouleau G, Campeau P
ANN NEUROL. 2018;83(6):1089-1095.

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
Holsten T, Tsiakas K, Kordes U, Bison B, Pietsch T, Rutkowski S, Santer R, Schüller U
CHILD NERV SYST. 2018;34(3):581-584.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel M, Kremer L, Tsiakas K, Alhaddad B, Haack T, Löbel U, Feichtinger R, Sperl W, Prokisch H, Mayr J, Santer R
MITOCHONDRION. 2017.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas R, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain M, Al-Zaidan H, Balasubramaniam S, Barić I, Bubshait D, Burlina A, Christodoulou J, Chung W, Colombo R, Darin N, Freisinger P, Garcia Silva M, Grunewald S, Haack T, van Hasselt P, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr J, McClean P, De Meirleir L, Naess K, Ngu L, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor R, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers R, de Brouwer A, Wortmann S
ANN NEUROL. 2017;82(6):1004-1015.

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Park J, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T
GENET MED. 2017.

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: 20.12.2024 - 23:35 Uhr