No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort

por König, Theresa, Leutmezer, Fritz, Berger, Thomas, Zimprich, Alexander, Schmied, Christiane, Stögmann, Elisabeth, Zrzavy, Tobias
Publicado 2023

Development of a multiplexed targeted mass spectrometry assay for LRRK2-phosphorylated Rabs and Ser910/Ser935 biomarker sites

por Nirujogi, Raja S., Tonelli, Francesca, Taylor, Matthew, Lis, Pawel, Zimprich, Alexander, Sammler, Esther, Alessi, Dario R.
Publicado 2021

Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families

por Zrzavy, Tobias, Leutmezer, Fritz, Kristoferitsch, Wolfgang, Kornek, Barbara, Schneider, Christine, Rommer, Paulus, Berger, Thomas, Zimprich, Alexander
Publicado 2020

A Genetic Polymorphism of the Endogenous Opioid Dynorphin Modulates Monetary Reward Anticipation in the Corticostriatal Loop

por Votinov, Mikhail, Pripfl, Juergen, Windischberger, Christian, Kalcher, Klaudius, Zimprich, Alexander, Zimprich, Fritz, Moser, Ewald, Lamm, Claus, Sailer, Uta
Publicado 2014

Teaching case 1-2020: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia – An unusual cause of dementia

por Klotz, Sigrid, Riederer, Franz, Hergovich, Nora, Schlager, Thomas, Steinkellner, Lara , Fertl, Elisabeth, Baumgartner, Cristoph, Zimprich, Alexander, Gelpi, Ellen
Publicado 2020

Teaching case 1-2020 – ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation – An unusual cause of dementia

por Klotz, Sigrid, Riederer, Franz, Hergovich, Nora, Schlager, Thomas, Steinkellner, Lara, Fertl, Elisabeth, Baumgartner, Christoph, Wagner, Matias, Zimprich, Alexander, Gelpi, Ellen
Publicado 2022

The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury – a pilot study

por Gerges-Knafl, Daniela, Peter, Pichler, Zimprich, Alexander, Hotzy, Christoph, Barousch, Wolfgang, Lang, Rita M., Lobmeyr, Elisabeth, Baumgartner-Parzer, Sabina, Wagner, Ludwig, Winnicki, Wolfgang
Publicado 2020

Correction to: The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury – a pilot study

por Gerges-Knafl, Daniela, Pichler, Peter, Zimprich, Alexander, Hotzy, Christoph, Barousch, Wolfgang, Lang, Rita M., Lobmeyr, Elisabeth, Baumgartner-Parzer, Sabina, Wagner, Ludwig, Winnicki, Wolfgang
Publicado 2020

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

por Silvaieh, Sara, König, Theresa, Wurm, Raphael, Parvizi, Tandis, Berger-Sieczkowski, Evelyn, Goeschl, Stella, Hotzy, Christoph, Wagner, Matias, Berutti, Riccardo, Sammler, Esther, Stögmann, Elisabeth, Zimprich, Alexander
Publicado 2023

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

por Silvaieh, Sara, König, Theresa, Wurm, Raphael, Parvizi, Tandis, Berger-Sieczkowski, Evelyn, Goeschl, Stella, Hotzy, Christoph, Wagner, Matias, Berutti, Riccardo, Sammler, Esther, Stögmann, Elisabeth, Zimprich, Alexander
Publicado 2023

Co‐incidental C9orf72 expansion mutation‐related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt−Jakob disease

por Klotz, Sigrid, König, Theresa, Erdler, Marcus, Ulram, Andreas, Nguyen, Anita, Ströbel, Thomas, Zimprich, Alexander, Stögmann, Elisabeth, Regelsberger, Günther, Höftberger, Romana, Budka, Herbert, Kovacs, Gabor G., Gelpi, Ellen
Publicado 2020

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

por Greisenegger, Elli Katharine, Llufriu, Sara, Chamorro, Angel, Cervera, Alvaro, Jimenez-Escrig, Adriano, Rappersberger, Klemens, Marik, Wolfgang, Greisenegger, Stefan, Stögmann, Elisabeth, Kopp, Tamara, Strom, Tim M., Henes, Jörg, Joutel, Anne, Zimprich, Alexander
Publicado 2020

The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human

por Mir, Rafeeq, Tonelli, Francesca, Lis, Pawel, Macartney, Thomas, Polinski, Nicole K., Martinez, Terina N., Chou, Meng-Yun, Howden, Andrew J.M., König, Theresa, Hotzy, Christoph, Milenkovic, Ivan, Brücke, Thomas, Zimprich, Alexander, Sammler, Esther, Alessi, Dario R.
Publicado 2018

Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures

por Jamali, Sarah, Salzmann, Annick, Perroud, Nader, Ponsole-Lenfant, Magali, Cillario, Jennifer, Roll, Patrice, Roeckel-Trevisiol, Nathalie, Crespel, Ariel, Balzar, Jorg, Schlachter, Kurt, Gruber-Sedlmayr, Ursula, Pataraia, Ekaterina, Baumgartner, Christoph, Zimprich, Alexander, Zimprich, Fritz, Malafosse, Alain, Szepetowski, Pierre
Publicado 2010

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

por Krenn, Martin, Salzer, Elisabeth, Simonitsch-Klupp, Ingrid, Rath, Jakob, Wagner, Matias, Haack, Tobias B., Strom, Tim M., Schänzer, Anne, Kilimann, Manfred W., Schmidt, Ralf L. J., Schmetterer, Klaus G., Zimprich, Alexander, Boztug, Kaan, Hahn, Andreas, Zimprich, Fritz
Publicado 2017

Rare Variants in PLXNA4 and Parkinson’s Disease

por Schulte, Eva C., Stahl, Immanuel, Czamara, Darina, Ellwanger, Daniel C., Eck, Sebastian, Graf, Elisabeth, Mollenhauer, Brit, Zimprich, Alexander, Lichtner, Peter, Haubenberger, Dietrich, Pirker, Walter, Brücke, Thomas, Bereznai, Benjamin, Molnar, Maria J., Peters, Annette, Gieger, Christian, Müller-Myhsok, Bertram, Trenkwalder, Claudia, Winkelmann, Juliane
Publicado 2013

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease

por Gomes, Sara, Garrido, Alicia, Tonelli, Francesca, Obiang, Donina, Tolosa, Eduardo, Martí, Maria José, Ruiz-Martínez, Javier, Vinagre-Aragón, Ana, Hernandez-Eguiazu, Haizea, Croitoru, Ioana, Marshall, Vicky L., Koenig, Theresa, Hotzy, Christoph, Hsieh, Frank, Sakalosh, Marianna, Tengstrand, Elizabeth, Padmanabhan, Shalini, Merchant, Kalpana, Bruecke, Christof, Pirker, Walter, Zimprich, Alexander, Sammler, Esther
Publicado 2023

Rare variants in LRRK1 and Parkinson's disease

por Schulte, Eva C., Ellwanger, Daniel C., Dihanich, Sybille, Manzoni, Claudia, Stangl, Katrin, Schormair, Barbara, Graf, Elisabeth, Eck, Sebastian, Mollenhauer, Brit, Haubenberger, Dietrich, Pirker, Walter, Zimprich, Alexander, Brücke, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Trenkwalder, Claudia, Mewes, Hans-Werner, Meitinger, Thomas, Lewis, Patrick A., Klünemann, Hans H., Winkelmann, Juliane
Publicado 2013

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

por Borsche, Max, König, Inke R, Delcambre, Sylvie, Petrucci, Simona, Balck, Alexander, Brüggemann, Norbert, Zimprich, Alexander, Wasner, Kobi, Pereira, Sandro L, Avenali, Micol, Deuschle, Christian, Badanjak, Katja, Ghelfi, Jenny, Gasser, Thomas, Kasten, Meike, Rosenstiel, Philip, Lohmann, Katja, Brockmann, Kathrin, Valente, Enza Maria, Youle, Richard J, Grünewald, Anne, Klein, Christine
Publicado 2020

Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome

por Schulte, Eva C., Schramm, Katharina, Schurmann, Claudia, Lichtner, Peter, Herder, Christian, Roden, Michael, Gieger, Christian, Peters, Annette, Trenkwalder, Claudia, Högl, Birgit, Frauscher, Birgit, Berger, Klaus, Fietze, Ingo, Gross, Nadine, Stiasny-Kolster, Karin, Oertel, Wolfgang, Bachmann, Cornelius G., Paulus, Walter, Zimprich, Alexander, Völzke, Henry, Schminke, Ulf, Nauck, Matthias, Illig, Thomas, Meitinger, Thomas, Müller-Myhsok, Bertram, Prokisch, Holger, Winkelmann, Juliane
Publicado 2014