Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Genome-Wide Transcriptional Response to 5-Aza-2'-Deoxycytidine and Trichostatin A in Multiple Myeloma Cells
HELLER, Gerwin, SCHMIDT, Wolfgang M, ZIEGLER, Barbara, HOLZER, Sonja, MÜLLAUER, Leonhard, BILBAN, Martin, ZIELINSKI, Christoph C, DRACH, Johannes, ZÖCHBAUER-MÜLLER, Sabine
Published in Cancer research (Chicago, Ill.) (2008)
Published in Cancer research (Chicago, Ill.) (2008)
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Päivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Günther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, Uusimaa, Johanna
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation
Steininger, Jolanda, Rossmanith, Raphael, Geier, Christoph B, Leiss-Piller, Alexander, Thonhauser, Lukas, Weiss, Simone, Hainfellner, Johannes A, Freilinger, Michael, Schmidt, Wolfgang M, Eibl, Martha M, Wolf, Hermann M
Published in Frontiers in immunology (20.12.2021)
Published in Frontiers in immunology (20.12.2021)
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The Lipid Metabolism as Target and Modulator of BOLD-100 Anticancer Activity: Crosstalk with Histone Acetylation
Baier, Dina, Mendrina, Theresa, Schoenhacker-Alte, Beatrix, Pirker, Christine, Mohr, Thomas, Rusz, Mate, Regner, Benedict, Schaier, Martin, Sgarioto, Nicolas, Raynal, Noël J-M, Nowikovsky, Karin, Schmidt, Wolfgang M, Heffeter, Petra, Meier-Menches, Samuel M, Koellensperger, Gunda, Keppler, Bernhard K, Berger, Walter
Published in Advanced science (01.11.2023)
Published in Advanced science (01.11.2023)
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Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging
Ritter, Markus, Zotter, Stefan, Schmidt, Wolfgang M, Bittner, Reginald E, Deak, Gabor G, Pircher, Michael, Sacu, Stefan, Hitzenberger, Christoph K, Schmidt-Erfurth, Ursula M
Published in Investigative ophthalmology & visual science (27.09.2013)
Published in Investigative ophthalmology & visual science (27.09.2013)
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DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies
Schmidt, Wolfgang M, Uddin, Mohammed H, Dysek, Sandra, Moser-Thier, Karin, Pirker, Christine, Höger, Harald, Ambros, Inge M, Ambros, Peter F, Berger, Walter, Bittner, Reginald E
Published in PLoS genetics (01.04.2011)
Published in PLoS genetics (01.04.2011)
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A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
Schöggl, Johanna, Siegert, Sandy, Boltshauser, Eugen, Freilinger, Michael, Schmidt, Wolfgang M.
Published in Movement disorders (01.08.2022)
Published in Movement disorders (01.08.2022)
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Journal Article
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration
Schmidt, Wolfgang M, Kraus, Cornelia, Höger, Harald, Hochmeister, Sonja, Oberndorfer, Felicitas, Branka, Manuela, Bingemann, Sonja, Lassmann, Hans, Müller, Markus, Macedo-Souza, Lúcia Inês, Vainzof, Mariz, Zatz, Mayana, Reis, André, Bittner, Reginald E
Published in EMBO reports (01.07.2007)
Published in EMBO reports (01.07.2007)
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Microarray-Based Identification of Bacteria in Clinical Samples by Solid-Phase PCR Amplification of 23S Ribosomal DNA Sequences
MITTERER, Georg, HUBER, Martin, LEIDINGER, Ernst, KIRISITS, Claudia, LUBITZ, Werner, MUELLER, Manfred W, SCHMIDT, Wolfgang M
Published in Journal of Clinical Microbiology (01.03.2004)
Published in Journal of Clinical Microbiology (01.03.2004)
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Journal Article
Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation
Mathieu, Véronique, Pirker, Christine, Schmidt, Wolfgang M., Spiegl-Kreinecker, Sabine, Lötsch, Daniela, Heffeter, Petra, Hegedus, Balazs, Grusch, Michael, Kiss, Robert, Berger, Walter
Published in Oncotarget (30.04.2012)
Published in Oncotarget (30.04.2012)
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Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition
Siegert, Sandy, Schmidt, Wolfgang M, Pletschko, Thomas, Bittner, Reginald E, Gobara, Sonja, Freilinger, Michael
Published in Neuropediatrics (01.10.2021)
Published in Neuropediatrics (01.10.2021)
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Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes
Siegert, Sandy, Grisold, Anna, Pal-Handl, Katharina, Lilja, Stephanie, Kepa, Sylvia, Silvaieh, Sara, Laccone, Franco, Wiest, Gerald, Pogledic, Ivana, Schmook, Maria T., Boltshauser, Eugen, Schmidt, Wolfgang M., Krenn, Martin
Published in Pediatric neurology (01.11.2024)
Published in Pediatric neurology (01.11.2024)
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Journal Article
Dissecting progressive stages of 5‐fluorouracil resistance in vitro using RNA expression profiling
Schmidt, Wolfgang M., Kalipciyan, Maria, Dornstauder, Eva, Rizovski, Blanka, Steger, Guenther G., Sedivy, Roland, Mueller, Manfred W., Mader, Robert M.
Published in International journal of cancer (01.11.2004)
Published in International journal of cancer (01.11.2004)
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Journal Article
The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug‐resistant epilepsy in childhood
Breu, Markus, Häfele, Chiara, Trimmel‐Schwahofer, Petra, Schmidt, Wolfgang M., Laconne, Franco, Vodopiutz, Julia, Male, Christoph, Dressler, Anastasia
Published in Epilepsia (Copenhagen) (01.11.2021)
Published in Epilepsia (Copenhagen) (01.11.2021)
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A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro
Steudle, Friederike, Rehman, Sabah, Bampali, Konstantina, Simeone, Xenia, Rona, Zsofia, Hauser, Erwin, Schmidt, Wolfgang M., Scholze, Petra, Ernst, Margot
Published in Scientific reports (11.02.2020)
Published in Scientific reports (11.02.2020)
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Journal Article
Episignature analysis of moderate effects and mosaics
Oexle, Konrad, Zech, Michael, Stühn, Lara G, Siegert, Sandy, Brunet, Theresa, Schmidt, Wolfgang M, Wagner, Matias, Schmidt, Axel, Engels, Hartmut, Tilch, Erik, Monestier, Olivier, Destrėe, Anne, Hanker, Britta, Boesch, Sylvia, Jech, Robert, Berutti, Riccardo, Kaiser, Frank, Haslinger, Bernhard, Haack, Tobias B, Garavaglia, Barbara, Krawitz, Peter, Winkelmann, Juliane, Mirza-Schreiber, Nazanin
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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