Research ExplorerScientific StaffKonstantinos Tsiakas Publications

Dr. ID: 46245

Konstantinos Tsiakas

graph of relations
Affiliations
1 - 29 out of 29Page size: 50

Publications

  1. 2023

  2. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. 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., 06.2023, In: MOL GENET METAB REP. 35, p. 100977

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  4. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

    Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 06.03.2023, In: HUM MOL GENET. 32, 6, p. 917-933 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Effects of Infantile Hypophosphatasia on Human Dental Tissue

    Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

    Park, J. H., 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. L. & Andersen, P. M., 2023, In: BRAIN COMMUN. 5, 1, p. fcad017

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. 2021

  8. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., 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., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

    Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. 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. F., Haas, D. & Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN), 09.2021, In: J INHERIT METAB DIS. 44, 5, p. 1272-1287 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

    Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. 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., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. 2019

  14. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  15. 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. M., Gulec, E. Y., Yesil, G., Punetha, J., Ocak, Z., Grochowski, C. M., Karaca, E., Albayrak, H. M., Radhakrishnan, P., Erdem, H. B., Sahin, I., Yildirim, T., Bayhan, I. A., Bursali, A., Elmas, M., Yuksel, Z., Ozdemir, O., Silan, F., Yildiz, O., Yesilbas, O., Isikay, S., Balta, B., Gu, S., Jhangiani, S. N., Doddapaneni, H., Hu, J., Muzny, D. M., Baylor Hopkins Center for Mendelian Genomics, Boerwinkle, E., Gibbs, R. A., Tsiakas, K., Hempel, M., Girisha, K. M., Gul, D., Posey, J. E., Elcioglu, N. H., Tuysuz, B. & Lupski, J. R., 03.07.2019, In: AM J HUM GENET. 105, 1, p. 132-150 19 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. 2018

  18. Recessive mutations in >VPS13D cause childhood-onset movement disorders

    Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., Carecchio, M., Lubbe, S. J., Telegrafi, A., Henderson, L. B., Lorenzo, K., Wallace, S. E., Glass, I. A., Hamdan, F. F., Michaud, J. L., Rouleau, G. A. & Campeau, P. M., 06.2018, In: ANN NEUROL. 83, 6, p. 1089-1095 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. 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., 03.2018, In: CHILD NERV SYST. 34, 3, p. 581-584 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. 2017

  21. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

    Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M., Hikmat, O., Hörster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., 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. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P. & Wortmann, S. B., 12.2017, In: ANN NEUROL. 82, 6, p. 1004-1015 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

    Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

    Hempel, M., Kremer, L. S., Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, U., Feichtinger, R. G., Sperl, W., Prokisch, H., Mayr, J. A. & Santer, R., 08.07.2017, In: MITOCHONDRION.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. 2015

  25. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

    Park, J. H., Hogrebe, M., Grüneberg, M., DuChesne, I., von der Heiden, A. L., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., Innes, A. M., Hörtnagel, K., Biskup, S., Gleixner, E. M., Kurlemann, G., Fiedler, B., Omran, H., Rutsch, F., Wada, Y., Tsiakas, K., Santer, R., Nebert, D. W., Rust, S. & Marquardt, T., 03.12.2015, In: AM J HUM GENET. 97, 6, p. 894-903 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. 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. A., 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. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M. & Baumgartner, M. R., 09.2015, In: J INHERIT METAB DIS. 38, 5, p. 957-967 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. 2014

  28. Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie

    Kehl, T., Tsiakas, K., Mühlhausen, C., Santer, R., C, W., Dr. von der Wense, A. & Singer, D., 12.2014, In: Z GEBURTSH NEONATOL. 218, 06, p. 269-270

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. 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. F., Beil, F. T., Pestka, J-M., Hahn, M., Santer, R., Supanchart, C., Kornak, U., Del Fattore, A., Jentsch, T. J., Teti, A., Schulz, A., Schinke, T. & Amling, M., 01.04.2014, In: J BONE MINER RES. 29, 4, p. 982-91 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. 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., 01.04.2014, In: LIVER TRANSPLANT. 20, 4, p. 464-72 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. 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., 27.02.2014, In: J INVEST DERMATOL. 134, 8, p. 2146-2153

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. 2012

  33. Cantú syndrome is caused by mutations in ABCC9

    van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., Eser, M., Wieskamp, N., de Vries, P., Steehouwer, M., Veltman, J. A., Robertson, S. P., Brunner, H. G., de Vries, B. B. A. & Hoischen, A., 08.06.2012, In: AM J HUM GENET. 90, 6, p. 1094-101 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. 2008

  35. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

    Engel, K., Nuoffer, J-M., Mühlhausen, C., Klaus, V., Largiadèr, C. R., Tsiakas, K. K., Santer, R., Wermuth, B. & Häberle, J., 2008, In: MOL GENET METAB. 94, 3, p. 292-297 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

    Spinazzola, A., Santer, R., Akman, O. H., Tsiakas, K. K., Schaefer, H., Ding, X., Karadimas, C. L., Shanske, S., Ganesh, J., Salvatore, D. M. & Zeviani, M., 2008, In: ARCH NEUROL-CHICAGO. 65, 8, p. 1108-1113 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. 2004

  38. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

    Tsiakas, K. K., Steinfeld, R., Storch, S., Ezaki, J., Lukacs, Z., Kominami, E., Kohlschütter, A., Ullrich, K. & Braulke, T., 2004, In: GLYCOBIOLOGY. 14, 4, 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. 1999

  40. Retroviral vectors pseudotyped with lymphocytic choriomeningitis virus.

    Miletic, H., Bruns, M., Tsiakas, K. K., Vogt, B., Rezai, R., Baum, C., Kühlke, K., Cosset, F. L., Ostertag, W., Lother, H. & von Laer, D., 1999, In: J VIROL. 73, 7, p. 6114-6116 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review