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1

Diagnostic strategy for females suspected of Fabry disease

Oliva, Petra, Balendran, Sukirhini, Sansen, Stefaan, Mechtler, Thomas P., Streubel, Berthold, Cobos, Paulina Nieves, Lukacs, Zoltan, Kasper, David C.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 326 KB

2020

2

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Nowak, Albina, Mechtler, Thomas P., Hornemann, Thorsten, Gawinecka, Joanna, Theswet, Eva, Hilz, Max J., Kasper, David C.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 741 KB

english, 2017

3

The value of biochemical enzymatic testing for the rapid identification of early-onset Pompe disease in newborns and children

Kasper, David C., Oliva, Petra, Schwarz, Markus, Wiesinger, Thomas, Lukacs, Zoltan, Streubel, Berthold, Mechtler, Thomas P.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 324 KB

2020

4

Neuro-oncological Disorders of the Cerebellum

Pfiffner, Thomas J., Jani, Ronak, Mechtler, Laszlo

Journal:

Neurologic Clinics

Year:

2014

Language:

english

File:

PDF, 2.20 MB

english, 2014

5

Reversal of H3K9me2 by a Small-Molecule Inhibitor for the G9a Histone Methyltransferase

Stefan Kubicek, Roderick J. O'Sullivan, E. Michael August, Eugene R. Hickey, Qiang Zhang, Miguel L. Teodoro, Stephen Rea, Karl Mechtler, Jennifer A. Kowalski, Carol Ann Homon, Terence A. Kelly, Thomas

Journal:

Year:

2007

Language:

english

File:

PDF, 1.13 MB

english, 2007

6

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

Thomas P Mechtler, Susanne Stary, Thomas F Metz, Víctor R De Jesús, Susanne Greber-Platzer, Arnold Pollak, Kurt R Herkner, Berthold Streubel, David C Kasper

Journal:

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

7

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

David C. Kasper, Rene Ratschmann, Thomas F. Metz, Thomas P. Mechtler, Dorothea Möslinger, Vassiliki Konstantopoulou, Chike B. Item, Arnold Pollak, Kurt R. Herkner

Journal:

Wiener klinische Wochenschrift

Year:

2010

File:

PDF, 188 KB

2010

8

In utero exposure to Ureaplasma spp. is associated with increased rate of bronchopulmonary dysplasia and intraventricular hemorrhage in preterm infants

Kasper, David C., Mechtler, Thomas P., Böhm, Judith, Petricevic, Ljubomir, Gleiss, Andreas, Spergser, Joachim, Witt, Armin, Herkner, Kurt R., Berger, Angelika

Journal:

Journal of Perinatal Medicine

Year:

2011

Language:

english

File:

PDF, 99 KB

english, 2011

9

The Role of Imaging in the Management of Cystic Formations of the Mobile Spine (CYFMOS)

Anand, Amar, Pfiffner, Thomas J., Mechtler, Laszlo

Journal:

Current Pain and Headache Reports

Year:

2018

Language:

english

File:

PDF, 2.59 MB

english, 2018

10

Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and Î²-thalassemias in dried blood spots

Wiesinger, Thomas, Mechtler, Thomas, Schwarz, Markus, Xie, Xiaolei, Grosse, Regine, Nieves Cobos, Paulina, Kasper, David, Lukacs, Zoltan

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2020

File:

PDF, 1.54 MB

2020

11

Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants

Benkoe, Thomas M., Mechtler, Thomas P., Weninger, Manfred, Pones, Mario, Rebhandl, Winfried, Kasper, David C.

Journal:

Journal of Pediatric Surgery

Year:

2014

Language:

english

File:

PDF, 794 KB

english, 2014

12

Peptide Labeling with Isobaric Tags Yields Higher Identification Rates Using iTRAQ 4-Plex Compared to TMT 6-Plex and iTRAQ 8-Plex on LTQ Orbitrap

Pichler, Peter, Köcher, Thomas, Holzmann, Johann, Mazanek, Michael, Taus, Thomas, Ammerer, Gustav, Mechtler, Karl

Journal:

Analytical Chemistry

Year:

2010

Language:

english

File:

PDF, 1.53 MB

english, 2010

13

Molecular basis for cytoplasmic RNA surveillance by uridylation‐triggered decay in Drosophila

Reimão‐Pinto, Madalena M, Manzenreither, Raphael A, Burkard, Thomas R, Sledz, Pawel, Jinek, Martin, Mechtler, Karl, Ameres, Stefan L

Journal:

The EMBO Journal

Year:

2016

Language:

english

File:

PDF, 7.26 MB

english, 2016

14

10.1038/35020506

Jenuwein, Thomas, Rea, Stephen, Eisenhaber, Frank, O'Carroll, Dónal, Strahl, Brian D., Sun, Zu-Wen, Schmid, Manfred, Opravil, Susanne, Mechtler, Karl, Ponting, Chris P., Allis, C. David

Journal:

Year:

2000

Language:

english

File:

PDF, 511 KB

english, 2000

15

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

Nowak, Albina, Mechtler, Thomas, Kasper, David C., Desnick, Robert J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 339 KB

english, 2017

16

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

Skrinjar, Philipp, Schwarz, Markus, Lexmüller, Stefan, Mechtler, Thomas P., Zeyda, Maximilian, Greber-Platzer, Susanne, Trometer, Joe, Kasper, David C., Mikula, Hannes

Journal:

ACS Central Science

Year:

2018

Language:

english

File:

PDF, 2.57 MB

english, 2018

17

Quantitative Phosphoproteomics of the Ataxia Telangiectasia-Mutated (ATM) and Ataxia Telangiectasia-Mutated and Rad3-related (ATR) Dependent DNA Damage Response in Arabidopsis thaliana

Roitinger, Elisabeth, Hofer, Manuel, Köcher, Thomas, Pichler, Peter, Novatchkova, Maria, Yang, Jianhua, Schlögelhofer, Peter, Mechtler, Karl

Journal:

Molecular & Cellular Proteomics

Year:

2015

Language:

english

File:

PDF, 1.70 MB

english, 2015

18

Topology and Organization of the Salmonella typhimurium Type III Secretion Needle Complex Components

Schraidt, Oliver, Lefebre, Matthew D., Brunner, Matthias J., Schmied, Wolfgang H., Schmidt, Andreas, Radics, Julia, Mechtler, Karl, Galán, Jorge E., Marlovits, Thomas C., Stebbins, C. Erec

Journal:

Year:

2010

Language:

english

File:

PDF, 711 KB

english, 2010

19

Unambiguous Phosphosite Localization using Electron-Transfer/Higher-Energy Collision Dissociation (EThcD)

Frese, Christian K., Zhou, Houjiang, Taus, Thomas, Altelaar, A. F. Maarten, Mechtler, Karl, Heck, Albert J. R., Mohammed, Shabaz

Journal:

Journal of Proteome Research

Year:

2013

Language:

english

File:

PDF, 240 KB

english, 2013

20

Plasma lyso-Gb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Nowak, Albina, Mechtler, Thomas P, Desnick, Robert J, Kasper, David C

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

21

Structural prediction of protein models using distance restraints derived from cross-linking mass spectrometry data

Orbán-Németh, Zsuzsanna, Beveridge, Rebecca, Hollenstein, David M, Rampler, Evelyn, Stranzl, Thomas, Hudecz, Otto, Doblmann, Johannes, Schlögelhofer, Peter, Mechtler, Karl

Journal:

Nature Protocols

Year:

2018

Language:

english

File:

PDF, 3.03 MB

english, 2018

22

Challenges for newborn screening and rare disease diagnostic initiatives in Europe

Kasper, David C., Lukacs, Zoltan, Streubel, Berthold, Oliva, Petra, Mechtler, Thomas P.

Journal:

Molecular Genetics and Metabolism

Year:

2020

Language:

english

File:

PDF, 341 KB

english, 2020

23

Universal and Confident Phosphorylation Site Localization Using phosphoRS

Taus, Thomas, Köcher, Thomas, Pichler, Peter, Paschke, Carmen, Schmidt, Andreas, Henrich, Christoph, Mechtler, Karl

Journal:

Journal of Proteome Research

Year:

2011

Language:

english

File:

PDF, 2.65 MB

english, 2011

24

Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots

Ostermann, Katharina M., Dieplinger, Rebecca, Lutsch, Nikola M., Strupat, Kerstin, Metz, Thomas F., Mechtler, Thomas P., Kasper, David C.

Journal:

Rapid Communications in Mass Spectrometry

Year:

2013

Language:

english

File:

PDF, 733 KB

english, 2013

25

SIMPATIQCO: A Server-Based Software Suite Which Facilitates Monitoring the Time Course of LC–MS Performance Metrics on Orbitrap Instruments

Pichler, Peter, Mazanek, Michael, Dusberger, Frederico, Weilnböck, Lisa, Huber, Christian G., Stingl, Christoph, Luider, Theo M., Straube, Werner L., Köcher, Thomas, Mechtler, Karl

Journal:

Journal of Proteome Research

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

26

Investigating the suitability of high-resolution mass spectrometry for newborn screening: Identification of hemoglobinopathies and Î²-thalassemia in dried blood spots

Mechtler, Thomas P., Wiesinger, Thomas, Schwarz, Markus, Xie, Xiaolei, Grosse, Regine, Cobos, Paulina Nieves, Kasper, David C., Lukacs, Zoltan

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 341 KB

2020

27

The bacterial load of Ureaplasma parvum in amniotic fluid is correlated with an increased intrauterine inflammatory response

David C. Kasper, Thomas P. Mechtler, Georg H. Reischer, Armin Witt, Michaela Langgartner, Arnold Pollak, Kurt R. Herkner, Angelika Berger

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

2010

Language:

english

File:

PDF, 182 KB

english, 2010

28

General Statistical Modeling of Data from Protein Relative Expression Isobaric Tags

Breitwieser, Florian P., Müller, André, Dayon, Loïc, Köcher, Thomas, Hainard, Alexandre, Pichler, Peter, Schmidt-Erfurth, Ursula, Superti-Furga, Giulio, Sanchez, Jean-Charles, Mechtler, Karl, Benn

Journal:

Journal of Proteome Research

Year:

2011

Language:

english

File:

PDF, 1.56 MB

english, 2011

29

A novel non-canonical PIP-box mediates PARG interaction with PCNA

Kaufmann, Tanja, Grishkovskaya, Irina, Polyansky, Anton A., Kostrhon, Sebastian, Kukolj, Eva, Olek, Karin M., Herbert, Sebastien, Beltzung, Etienne, Mechtler, Karl, Peterbauer, Thomas, Gotzmann, Josef

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 6.81 MB

english, 2017

30

Five year experience of diagnostic testing for lysosomal diseases in Germany, Austria and Switzerland

Kasper, David C., Mechtler, Thomas P., Streubel, Berthold

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 44 KB

english, 2018

31

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots

David C. Kasper, Joseph Herman, Victor R. De Jesus, Thomas P. Mechtler, Thomas F. Metz, Bori Shushan

Journal:

Rapid Communications in Mass Spectrometry

Year:

2010

Language:

english

File:

PDF, 342 KB

english, 2010

32

Ultra-High-Pressure RPLC Hyphenated to an LTQ-Orbitrap Velos Reveals a Linear Relation between Peak Capacity and Number of Identified Peptides

Köcher, Thomas, Swart, Remco, Mechtler, Karl

Journal:

Analytical Chemistry

Year:

2011

Language:

english

File:

PDF, 1.39 MB

english, 2011

33

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Nowak, Albina, Mechtler, Thomas P., Desnick, Robert J., Kasper, David C.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 942 KB

english, 2016

34

A new acid mix enhances phosphopeptide enrichment on titanium- and zirconium dioxide for mapping of phosphorylation sites on protein complexes

Michael Mazanek, Elisabeth Roitinger, Otto Hudecz, James R.A. Hutchins, Björn Hegemann, Goran Mitulović, Thomas Taus, Christoph Stingl, Jan-Michael Peters, Karl Mechtler

Journal:

Journal of Chromatography B

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

35

High Precision Quantitative Proteomics Using iTRAQ on an LTQ Orbitrap: A New Mass Spectrometric Method Combining the Benefits of All

Köcher, Thomas, Pichler, Peter, Schutzbier, Michael, Stingl, Christoph, Kaul, Axel, Teucher, Nils, Hasenfuss, Gerd, Penninger, Josef M., Mechtler, Karl

Journal:

Journal of Proteome Research

Year:

2009

Language:

english

File:

PDF, 1.35 MB

english, 2009

36

Analysis of protein mixtures from whole-cell extracts by single-run nanoLC-MS/MS using ultralong gradients

Köcher, Thomas, Pichler, Peter, Swart, Remco, Mechtler, Karl

Journal:

Nature Protocols

Year:

2012

Language:

english

File:

PDF, 809 KB

english, 2012

37

Correction to “Comprehensive Cross-Linking Mass Spectrometry Reveals Parallel Orientation and Flexible Conformations of Plant HOP2–MND1”

Rampler, Evelyn, Stranzl, Thomas, Orban-Nemeth, Zsuzsanna, Hollenstein, David Maria, Hudecz, Otto, Schlögelhofer, Peter, Mechtler, Karl

Journal:

Journal of Proteome Research

Year:

2016

File:

PDF, 108 KB

2016

38

Recruitment of PRC1 function at the initiation of X inactivation independent of PRC2 and silencing

Schoeftner, Stefan, Sengupta, Aditya K, Kubicek, Stefan, Mechtler, Karl, Spahn, Laura, Koseki, Haruhiko, Jenuwein, Thomas, Wutz, Anton

Journal:

The EMBO Journal

Year:

2006

Language:

english

File:

PDF, 582 KB

english, 2006

39

Molecular Detection of Late-Onset Neonatal Sepsis in Premature Infants Using Small Blood Volumes: Proof-of-Concept

Kasper, David C., Altiok, Ipek, Mechtler, Thomas P., Böhm, Judith, Straub, Julia, Langgartner, Michaela, Pollak, Arnold, Herkner, Kurt R., Berger, Angelika

Journal:

Year:

2013

Language:

english

File:

PDF, 424 KB

english, 2013

40

MASPECTRAS: a platform for management and analysis of proteomics LC-MS/MS data

Jürgen Hartler, Gerhard G Thallinger, Gernot Stocker, Alexander Sturn, Thomas R Burkard, Erik Körner, Robert Rader, Andreas Schmidt, Karl Mechtler, Zlatko Trajanoski

Journal:

BMC Bioinformatics

Year:

2007

Language:

english

File:

PDF, 505 KB

english, 2007

41

Development and performance evaluation of an ultralow flow nanoliquid chromatography-tandem mass spectrometry set-up

Köcher, Thomas, Pichler, Peter, De Pra, Mauro, Rieux, Laurent, Swart, Remco, Mechtler, Karl

Journal:

Year:

2014

Language:

english

File:

PDF, 385 KB

english, 2014

42

Differential diagnosis for mucopolysaccharidoses (MPSs)

Oliva, Petra, Mechtler, Thomas P., Lukacs, Zoltan, Streubel, Berthold, Kasper, David C.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 326 KB

2020

43

Combined biochemical and targeted-next generation sequencing panel for differential diagnosis of inherited myopathies

Kasper, David C., Mechtler, Thomas P., Oliva, Petra, Schwarz, Markus, Wiesinger, Thomas, Lukacs, Zoltan, Streubel, Berthold

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 324 KB

2020

44

10.1038/35065132

Lachner, Monika, O'Carroll, Dónal, Rea, Stephen, Mechtler, Karl, Jenuwein, Thomas

Journal:

Year:

2001

Language:

english

File:

PDF, 228 KB

english, 2001

45

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

Thomas P. Mechtler, Thomas F. Metz, Hannes G. Müller, Katharina Ostermann, Rene Ratschmann, Victor R. De Jesus, Bori Shushan, Joseph M. Di Bussolo, Joseph L. Herman, Kurt R. Herkner, David C. Kasper

Journal:

Journal of Chromatography B

Year:

2012

Language:

english

File:

PDF, 569 KB

english, 2012

46

Analytical and diagnostic performance of a DBS based assay for GM1 and GM2

Mechtler, Thomas P., Schwarz, Markus, Wiesinger, Thomas, Oliva, Petra, Streubel, Berthold, Lukacs, Zoltan, Kasper, David C.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 326 KB

2020

47

Phase I study of temozolomide and escalating doses of oral etoposide for adults with recurrent malignant glioma

David N. Korones, Michal Benita-Weiss, Thomas E. Coyle, Laszlo Mechtler, Peter Bushunow, Brandon Evans, David A. Reardon, Jennifer A. Quinn, Henry Friedman

Journal:

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

48

Effect of transforming growth factor-β1 on microglial MHC-class II expression

Tamas Pazmany, Janos P Kosa, Thomas B Tomasi, Laszlo Mechtler, Andrea Turoczi, Attila Lehotzky

Journal:

Journal of Neuroimmunology

Year:

2000

Language:

english

File:

PDF, 971 KB

english, 2000

49

Optimized Nonlinear Gradients for Reversed-Phase Liquid Chromatography in Shotgun Proteomics

Moruz, Luminita, Pichler, Peter, Stranzl, Thomas, Mechtler, Karl, Käll, Lukas

Journal:

Analytical Chemistry

Year:

2013

Language:

english

File:

PDF, 1.42 MB

english, 2013

50

The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: New promising class of biomarkers?

Benkoe, Thomas M., Mechtler, Thomas P., Pones, Mario, Prusa, Andrea-Romana, Klebermass-Schrehof, Katrin, Rebhandl, Winfried, Kasper, David C.

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 571 KB

english, 2015

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