Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Brunner-Krainz Michaela |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2022
Originalarbeit (Zeitschrift)
** Bolsterli, BK; Boltshauser, E; Palmieri, L; Spenger, J; Brunner-Krainz, M; Distelmaier, F; Freisinger, P; Geis, T; Gropman, AL; Haberle, J; Hentschel, J; Jeandidier, B; Karall, D; Keren, B; Klabunde-Cherwon, A; Konstantopoulou, V; Kottke, R; Lasorsa, FM; Makowski, C; Mignot, C; Tuura, RO; Porcelli, V; Santer, R; Sen, K; Steinbrucker, K; Syrbe, S; Wagner, M; Ziegler, A; Zoggeler, T; Mayr, JA; Prokisch, H; Wortmann, SB
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
NUTRIENTS. 2022; 14(17): 3605
Doi: 10.3390/nu14173605
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** Ramoser, G; Caferri, F; Radlinger, B; Brunner-Krainz, M; Herbst, S; Huemer, M; Hufgard-Leitner, M; Kircher, SG; Konstantopoulou, V; Löscher, W; Möslinger, D; Plecko, B; Spenger, J; Stulnig, T; Sunder-Plassmann, G; Wortmann, S; Scholl-Bürgi, S; Karall, D, , Austrian, IMD, Registry, Group
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
J Inherit Metab Dis. 2021;
Doi: 10.1002/jimd.12442
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2021
Originalarbeit (Zeitschrift)
** Beghini, M; Resch, FJ; Moslinger, D; Konstantopoulou, V; Karall, D; Scholl-Burgi, S; Brunner-Krainz, M; Plecko, B; Spenger, J; Kautzky-Willer, A; Scherer, T; Hufgard-Leitner, M
Project & ldquo;Backtoclinic I & rdquo;: An overview on the state of care of adult PKU patients in Austria
MOL GENET METAB. 2021; 133(3): 257-260.
Doi: 10.1016/j.ymgme.2021.05.003
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** Herle, M; Brunner-Krainz, M; Karall, D; Goeschl, B; Moslinger, D; Zobel, J; Plecko, B; Scholl-Burgi, S; Spenger, J; Wortmann, SB; Huemer, M
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
ORPHANET J RARE DIS. 2021; 16(1): 367
Doi: 10.1186/s13023-021-01996-x
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2019
Originalarbeit (Zeitschrift)
** Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
J Pediatr Gastroenterol Nutr. 2019; 68(1):e1-e6-e1-e6
Doi: 10.1097/MPG.0000000000002149
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2018
Originalarbeit (Zeitschrift)
** Löscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Möslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
J Neurol. 2018; 265(1):159-164
Doi: 10.1007/s00415-017-8686-6
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Fallbericht
** Fabian, E; Schiller, D; Toplak, H; Brunner-Krainz, M; Fazekas, F; Schoefl, R; Krejs, GJ
Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.
Wien Klin Wochenschr. 2018; 130(3-4):151-160
Doi: 10.1007/s00508-017-1291-y
(- Case Report)
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** O'Byrne, JJ; Tarailo-Graovac, M; Ghani, A; Champion, M; Deshpande, C; Dursun, A; Ozgul, RK; Freisinger, P; Garber, I; Haack, TB; Horvath, R; Barić, I; Husain, RA; Kluijtmans, LAJ; Kotzaeridou, U; Morris, AA; Ross, CJ; Santra, S; Smeitink, J; Tarnopolsky, M; Wortmann, SB; Mayr, JA; Brunner-Krainz, M; Prokisch, H; Wasserman, WW; Wevers, RA; Engelke, UF; Rodenburg, RJ; Ting, TW; McFarland, R; Taylor, RW; Salvarinova, R; van Karnebeek, CDM
The genotypic and phenotypic spectrum of MTO1 deficiency.
MOL GENET METAB. 2018; 123(1): 28-42.
Doi: 10.1016/j.ymgme.2017.11.003
(- Case Report)
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2017
Originalarbeit (Zeitschrift)
** Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017(3-4):7202589-7202589
Doi: 10.1155/2017/7202589
[OPEN ACCESS]
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** Haberlandt, E; Ensslen, M; Gruber-Sedlmayr, U; Plecko, B; Brunner-Krainz, M; Schimmel, M; Schubert-Bast, S; Neirich, U; Philippi, H; Kurleman, G; Tardieu, M; Wohlrab, G; Borggraefe, I; Rostásy, K
Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.
Eur J Paediatr Neurol. 2017; 21(3):457-464
Doi: 10.1016/j.ejpn.2016.11.016
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2015
Originalarbeit (Zeitschrift)
** Jones, R; Behrens, R; Brunner-Krainz, M; Heu, V; Holler, A; Huber-Zeyringer, A; Karall, D; Keck, B; Knafl, B; Koch, J; Kronberger, M; Mang, A; Fellbaum, UM; Radauer, W; Rath-Wacenovsky, R; Seelbach, C; Weghuber, D; Hoffmann, KM
Guidelines on Nutrition in pediatric Palliative Medicine
PADIATR PADOL. 2015; 50: 4-24.
Doi: 10.1007/s00608-015-0232-0
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** Karall, D; Brunner-Krainz, M; Kogelnig, K; Konstantopoulou, V; Maier, EM; Möslinger, D; Plecko, B; Sperl, W; Volkmar, B; Scholl-Bürgi, S
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Orphanet J Rare Dis. 2015; 10(1): 21-21.
Doi: 10.1186/s13023-015-0236-7
[OPEN ACCESS]
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** Strickland, AV; Schabhüttl, M; Offenbacher, H; Synofzik, M; Hauser, NS; Brunner-Krainz, M; Gruber-Sedlmayr, U; Moore, SA; Windhager, R; Bender, B; Harms, M; Klebe, S; Young, P; Kennerson, M; Garcia, AS; Gonzalez, MA; Züchner, S; Schule, R; Shy, ME; Auer-Grumbach, M
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol. 2015; 262(9):2124-2134
Doi: 10.1007/s00415-015-7727-2
[OPEN ACCESS]
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2014
Originalarbeit (Zeitschrift)
** 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
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Orphanet J Rare Dis. 2014; 9(8):107-107
Doi: 10.1186/s13023-014-0107-7
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** Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Sperl, D; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.
Pediatr Hematol Oncol. 2014; 31(8):723-730
Doi: 10.3109/08880018.2014.939794
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Abstract (Zeitschrift)
** Sperl, D; Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C
CD3/CD19-DEPLETIERTE AND CD3/TCR-alpha/beta-DEPLETIERTE PERIPHERAL STEM CELL TRANSPLANTATION AFTER CONDITIONING WITH THIOTEPA, FLUDARABINE, TREOSULFAN AND ATG IN CONGENITAL METABOLIC DISORDERS
TRANSPL INT. 2014; 27: 4-4.-Austrotransplant,28. Tagung der Österr. Ges. f. Transplantation, Transfusion und Genetik ; OCT 15-18, 2014; Bad Ischl,AUSTRIA .
[Oral Communication]
Web of Science
2013
Originalarbeit (Zeitschrift)
** 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
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Orphanet J Rare Dis. 2013; 8(3):6-6
Doi: 10.1186/1750-1172-8-6
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** Rostásy, K; Mader, S; Hennes, EM; Schanda, K; Gredler, V; Guenther, A; Blaschek, A; Korenke, C; Pritsch, M; Pohl, D; Maier, O; Kuchukhidze, G; Brunner-Krainz, M; Berger, T; Reindl, M
Persisting myelin oligodendrocyte glycoprotein antibodies in aquaporin-4 antibody negative pediatric neuromyelitis optica.
Mult Scler. 2013; 19(8):1052-1059
Doi: 10.1177/1352458512470310
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** Sterl, E; Paul, K; Paschke, E; Zschocke, J; Brunner-Krainz, M; Windisch, E; Konstantopoulou, V; Möslinger, D; Karall, D; Scholl-Bürgi, S; Sperl, W; Lagler, F; Plecko, B
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J Inherit Metab Dis. 2013; 36(1):7-13
Doi: 10.1007/s10545-012-9485-y
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2012
Originalarbeit (Zeitschrift)
** 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
Propionic acidemia: neonatal versus selective metabolic screening.
J INHERIT METAB DIS. 2012; 35(1): 41-49.
Doi: 10.1007/s10545-011-9419-0
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** Kraus, JP; Spector, E; Venezia, S; Estes, P; Chiang, PW; Creadon-Swindell, G; 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; Ugarte, M; Sperl, W; Superti-Furga, A; Schwab, KO; Grünert, SC; Sass, JO
Mutation analysis in 54 propionic acidemia patients.
J INHERIT METAB DIS. 2012; 35(1): 51-63.
Doi: 10.1007/s10545-011-9399-0
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Abstract (Zeitschrift)
** Karall, D; Kogelnig, K; Brunner-Krainz, M; Plecko, B; Moslinger, D; Konstantopoulou, V; Volkmar, B; Sperl, W; Scholl-Burgi, S
CLINICAL OUTCOME, BIOCHEMICAL AND THERAPEUTIC FOLLOW UP IN AUSTRIAN PATIENTS WITH LONG-CHAIN 3-HYDROXY ACYL COA DEFICIENCY (LCHADD)
J INHERIT METAB DIS. 2012; 35: S69-S69.
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** Lagler, FB; Brunner-Krainz, M; Moeslinger, D; Konstantopoulou, V; Roscher, A; Erwa, W; Sterl, L; Karall, D; Scholl-Burgi, S; Zschocke, J; Sperl, W; Volkmar, B; Plecko, B
48-HOUR BH4 LOADING TEST VERSUS ALGORITHMIC PHENYLALANINE CHALLENGE: INTERIM ANALYSIS OF AN OPEN-LABEL MULTICENTRE STUDY
J INHERIT METAB DIS. 2012; 35: S40-S40.
Web of Science
2010
Kommentar
** Ring, S; Lackner, H; Urban, C; Brunner-Krainz, M; Plecko-Startinig, B
Alexander disease: an important mimicker of focal brainstem glioma.
Pediatr Blood Cancer. 2010; 54(3):486; author reply 487-486; author reply 487
Doi: 10.1002/pbc.22334
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2009
Originalarbeit (Zeitschrift)
** Haberlandt, E; Canestrini, C; Brunner-Krainz, M; Möslinger, D; Mussner, K; Plecko, B; Scholl-Bürgi, S; Sperl, W; Rostásy, K; Karall, D
Epilepsy in patients with propionic acidemia.
Neuropediatrics. 2009; 40(3):120-125
Doi: 10.1055/s-0029-1243167
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2007
Abstract (Zeitschrift)
** Brunner-Krainz, M; Harmatz, P; Pfleger, A; Eber, E; Zach, M; Rodl, S; Paschke, E; Plecko, B
Six years experience of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB) in an 18 year old male with MPS VI (Maroteaux-Lamy)
J INHERIT METAB DIS. 2007; 30: 116-116.-SSIEM Society for the Study of Inborn Erros of Metabolism; SEPT 4-7, 2007; Hamburg, GERMANY.
[Poster]
Web of Science
2006
Originalarbeit (Zeitschrift)
** Kroepfl, T; Mair, E; Deutsch, J; Brunner-Krainz, M; Paschke, E; Plecko, B
Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.
J Inherit Metab Dis. 2006; 29(4):593-593
Doi: 10.1007/s10545-006-0312-1
(- Case Report)
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