Publications by authors named "Elisabeth Graf"

61Publications

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 Nov;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

Mitochondrial Regulation of the 26S Proteasome.

Cell Rep 2020 Aug;32(8):108059

Member of the German Center for Lung Research (DZL), Comprehensive Pneumology Center (CPC), University Hospital, Ludwig-Maximilians University, Helmholtz Zentrum München, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2020.108059DOI Listing
August 2020

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice.

Nat Commun 2020 01 31;11(1):624. Epub 2020 Jan 31.

Institute for Diabetes and Obesity, Helmholtz Diabetes Center, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1038/s41467-019-14069-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994690PMC
January 2020

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Neurol Genet 2018 Dec 13;4(6):e285. Epub 2018 Nov 13.

Department of Neurology (E.M.R., S.P., C.S., F.L., F.Z., A.Z.), Medical University of Vienna, Austria; Institut für Humangenetik (E.G., T.W., T.S.), Helmholtz Zentrum München, Germany; Center for Brain Research (T.Z., H.L.), Medical University of Vienna; Division of Nephrology and Dialysis (C.K.), Department of Internal Medicine III, Medical University of Vienna; Department of Physical Medicine (M.K.), Rehabilitation and Occupational Medicine, Medical University of Vienna, Austria; Lübeck Interdisciplinary Platform for Genome Analytics (C.M.L.), Institutes of Neurogenetics and for Cardiogenetics, University of Lübeck; Department of Neurology and Neuroimaging Center (NIC) (C.M.L.), Focus Program Translational Neuroscience (FTN), University Medical Center of the Johannes Gutenberg University Mainz; Department of Human Genetics (S.H., J.T.E.), Ruhr-University Bochum; Herdecke (J.T.E.), ZBAF, Faculty of Health, University Witten; Department of Neurology (U.K.Z., M.H.), Neuroimmunological Section, University of Rostock; Department of Neurology (A.D.), Department of Clinical Genomics (A.D.), Department of Neuroscience (A.D.), Jeweils Mayo Clinic, Jacksonville, FL; Department of Neurology (S.G.M.), University of Muenster, Germany; Department of Physiology and Biochemistry (M.A., B.M.), School of Medicine, the University of Jordan; The National Center (Institute) for Diabetes (M.E.-K.), Endocrinology and Genetics (NCDEG), Amman, Jordan; Department of Medical Genetics (C.V.-G., A.D.S.), University of British Columbia, Vancouver, Canada; Department of Medical Biochemistry and Microbiology (B.T.), Uppsala University, Sweden; Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria; and Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria.

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http://dx.doi.org/10.1212/NXG.0000000000000285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244017PMC
December 2018

Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles.

Cell Rep 2018 06;23(10):3112-3125

Gene Center, Department of Biochemistry, Ludwig-Maximilians Universität München, 81377 Munich, Germany; Institute for Diabetes and Obesity, Helmholtz Diabetes Center, Helmholtz Zentrum München and German National Diabetes Center (DZD), 85764 Neuherberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.05.021DOI Listing
June 2018

Molecular Integration of Incretin and Glucocorticoid Action Reverses Immunometabolic Dysfunction and Obesity.

Cell Metab 2017 Oct 21;26(4):620-632.e6. Epub 2017 Sep 21.

Institute for Diabetes and Obesity, Helmholtz Diabetes Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Division of Metabolic Diseases, Department of Medicine, Technische Universität München, 80333 Munich, Germany; German Center for Diabetes Research (DZD), Helmholtz Zentrum München, Ingolstädter Landstraße, 85764 Neuherberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2017.08.023DOI Listing
October 2017

Long-Term Cold Adaptation Does Not Require FGF21 or UCP1.

Cell Metab 2017 Aug;26(2):437-446.e5

Institute for Diabetes and Obesity, Helmholtz Diabetes Center, German Research Center for Environmental Health (GmbH), Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany; Department of Animal Physiology, Faculty of Biology, Philipps University of Marburg, Marburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2017.07.016DOI Listing
August 2017

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Pediatr Res 2017 Nov 26;82(5):753-758. Epub 2017 Jul 26.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://www.nature.com/doifinder/10.1038/pr.2017.149
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http://dx.doi.org/10.1038/pr.2017.149DOI Listing
November 2017

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Eur J Hum Genet 2017 08 10;25(8):960-965. Epub 2017 May 10.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/ejhg.2017.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567151PMC
August 2017

[Involvement of collaborators, key to success].

Krankenpfl Soins Infirm 2015 ;108(9):74-5

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December 2015

[Success factor emotional coworker engagement].

Krankenpfl Soins Infirm 2015 ;108(8):20-1

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November 2015

Affective Organizational Commitment in Swiss Nursing Homes: A Cross-Sectional Study.

Gerontologist 2016 12 1;56(6):1124-1137. Epub 2015 May 1.

Institute of Nursing Science, University of Basel, Switzerland.

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http://dx.doi.org/10.1093/geront/gnv053DOI Listing
December 2016

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Am J Hum Genet 2011 Jun 27;88(6):788-795. Epub 2011 May 27.

INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2011.04.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113253PMC
June 2011

Reduced expression of beta-catenin inhibitor Chibby in colon carcinoma cell lines.

World J Gastroenterol 2006 Mar;12(10):1529-35

University of Regensburg, Institute of Pathology, Franz-Josef-Straus-Allee 11, 93053 Regensburg, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124284PMC
http://dx.doi.org/10.3748/wjg.v12.i10.1529DOI Listing
March 2006