Fasting Dependent Paroxysmal Exercise Induced Dystonia as Presenting Symptom in PRKN Type of Parkinson's Disease

por Gattermeyer, Lukas, Windpassinger, Christian, Katschnig‐Winter, Petra, Schwingenschuh, Petra
Publicado 2023

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

por Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, Christian
Publicado 2016

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

por Kurath-Koller, Stefan, Resch, Bernhard, Kraschl, Raimund, Windpassinger, Christian, Eber, Ernst
Publicado 2015

Histone deacetylase inhibitors vorinostat and panobinostat induce G1 cell cycle arrest and apoptosis in multidrug resistant sarcoma cell lines

por Bernhart, Eva, Stuendl, Nicole, Kaltenegger, Heike, Windpassinger, Christian, Donohue, Nicholas, Leithner, Andreas, Lohberger, Birgit
Publicado 2017

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

por Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
Publicado 2020

Four and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel K(v1.5)

por Poparic, Ivana, Schreibmayer, Wolfgang, Schoser, Benedikt, Desoye, Gernot, Gorischek, Astrid, Miedl, Heidi, Hochmeister, Sonja, Binder, Josepha, Quasthoff, Stefan, Wagner, Klaus, Windpassinger, Christian, Malle, Ernst
Publicado 2011

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

por Muzammal, Muhammad, Zubair, Muhammad, Bierbaumer, Sophie, Blatterer, Jasmin, Graf, Ricarda, Gul, Aisha, Abbas, Safdar, Badar, Muhammad, Abbasi, Ansar Ahmad, Khan, Muzammil Ahmad, Windpassinger, Christian
Publicado 2019

Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line

por Li, Chouyang, Rezania, Simin, Kammerer, Sarah, Sokolowski, Armin, Devaney, Trevor, Gorischek, Astrid, Jahn, Stephan, Hackl, Hubert, Groschner, Klaus, Windpassinger, Christian, Malle, Ernst, Bauernhofer, Thomas, Schreibmayer, Wolfgang
Publicado 2015

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

por Seidel, Markus G., Hirschmugl, Tatjana, Gamez-Diaz, Laura, Schwinger, Wolfgang, Serwas, Nina, Deutschmann, Andrea, Gorkiewicz, Gregor, Zenz, Werner, Windpassinger, Christian, Grimbacher, Bodo, Urban, Christian, Boztug, Kaan
Publicado 2015

Characterization of rat serum amyloid A4 (SAA4): A novel member of the SAA superfamily

por Rossmann, Christine, Windpassinger, Christian, Brunner, Daniela, Kovacevic, Alenka, Schweighofer, Natascha, Malli, Roland, Schuligoi, Rufina, Prokesch, Andreas, Kluve-Beckerman, Barbara, Graier, Wolfgang F., Kratky, Dagmar, Sattler, Wolfgang, Malle, Ernst
Publicado 2014

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

por Muzammal, Muhammad, Ali, Muhammad Zeeshan, Brugger, Beatrice, Blatterer, Jasmin, Ahmad, Safeer, Taj, Sundas, Shah, Syed Khizar, Khan, Saadullah, Enzinger, Christian, Petek, Erwin, Wagner, Klaus, Khan, Muzammil Ahmad, Windpassinger, Christian
Publicado 2021

How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports

por Al Kaissi, Ali, Windpassinger, Christian, Chehida, Farid Ben, Ghachem, Maher Ben, Nassib, Nabil M., Kenis, Vladimir, Melchenko, Eugene, Morenko, Ekatrina, Ryabykh, Sergey, Hofstaetter, Jochen G., Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Publicado 2017

Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathways

por Bernhart, Eva, Damm, Sabine, Heffeter, Petra, Wintersperger, Andrea, Asslaber, Martin, Frank, Saša, Hammer, Astrid, Strohmaier, Heimo, DeVaney, Trevor, Mrfka, Manuel, Eder, Hans, Windpassinger, Christian, Ireson, Christopher R., Mischel, Paul S., Berger, Walter, Sattler, Wolfgang
Publicado 2014

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

por Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela
Publicado 2011

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes

por Guelly, Christian, Abilova, Zhannur, Nuralinov, Omirbek, Panzitt, Katrin, Akhmetova, Ainur, Rakhimova, Saule, Kozhamkulov, Ulan, Kairov, Ulykbek, Molkenov, Askhat, Ashenova, Ainur, Trajanoski, Slave, Abildinova (Rashbayeva), Gulzhaina, Kaussova, Galina, Windpassinger, Christian, Lee, Joseph H., Zhumadilov, Zhaxybay, Bekbossynova, Makhabbat, Akilzhanova, Ainur
Publicado 2021

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

por Gruber, Robert, Rogerson, Clare, Windpassinger, Christian, Banushi, Blerida, Straatman-Iwanowska, Anna, Hanley, Joanna, Forneris, Federico, Strohal, Robert, Ulz, Peter, Crumrine, Debra, Menon, Gopinathan K., Blunder, Stefan, Schmuth, Matthias, Müller, Thomas, Smith, Holly, Mills, Kevin, Kroisel, Peter, Janecke, Andreas R., Gissen, Paul
Publicado 2017

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

por Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N., Rafiq, Muhammad A., Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R., Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B., Windpassinger, Christian, Duba, Hans-Christoph
Publicado 2014

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

por Feichtinger, René G., Brunner-Krainz, Michaela, Alhaddad, Bader, Wortmann, Saskia B., Kovacs-Nagy, Reka, Stojakovic, Tatjana, Erwa, Wolfgang, Resch, Bernhard, Windischhofer, Werner, Verheyen, Sarah, Uhrig, Sabine, Windpassinger, Christian, Sternberg, Felix, Makowski, Christine, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang, Haack, Tobias B., Mayr, Johannes A.
Publicado 2017

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X

por Schulz, Eduard, Klampfl, Petra, Holzapfel, Stefanie, Janecke, Andreas R., Ulz, Peter, Renner, Wilfried, Kashofer, Karl, Nojima, Satoshi, Leitner, Anita, Zebisch, Armin, Wölfler, Albert, Hofer, Sybille, Gerger, Armin, Lax, Sigurd, Beham-Schmid, Christine, Steinke, Verena, Heitzer, Ellen, Geigl, Jochen B., Windpassinger, Christian, Hoefler, Gerald, Speicher, Michael R., Richard Boland, C., Kumanogoh, Atsushi, Sill, Heinz
Publicado 2014

Germline mutations in BAP1 predispose to melanocytic tumors

por Wiesner, Thomas, Obenauf, Anna C., Murali, Rajmohan, Fried, Isabella, Griewank, Klaus G., Ulz, Peter, Windpassinger, Christian, Wackernagel, Werner, Loy, Shea, Wolf, Ingrid, Viale, Agnes, Lash, Alex E., Pirun, Mono, Socci, Nicholas D., Rütten, Arno, Palmedo, Gabriele, Abramson, David, Offit, Kenneth, Ott, Arthur, Becker, Jürgen C., Cerroni, Lorenzo, Kutzner, Heinz, Bastian, Boris C., Speicher, Michael R.
Publicado 2011