Publications by authors named "Peter Bauer"

100Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Sep 26. Epub 2020 Sep 26.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
September 2020

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases.

Parkinsonism Relat Disord 2020 Aug 19;79:34-39. Epub 2020 Aug 19.

Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.08.015DOI Listing
August 2020

Analysis of Austrian COVID-19 deaths by age and sex.

Wien Klin Wochenschr 2020 Jul 3. Epub 2020 Jul 3.

Section for Medical Statistics, Center for Medical Statistics, Informatics and Intelligent Systems, Medical University of Vienna, Spitalgasse 23, 1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s00508-020-01707-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333368PMC
July 2020

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters.

Neurodegener Dis 2020 Jun 24:1-7. Epub 2020 Jun 24.

Institute of Neurogenetics, University of Lubeck, Lubeck, Germany.

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http://dx.doi.org/10.1159/000508131DOI Listing
June 2020

Electronic excitation of transition metal nitrides by light ions with keV energies.

J Phys Condens Matter 2020 Apr 24;32(40):405502. Epub 2020 Apr 24.

Department of Physics and Astronomy, Uppsala University, 751 20 Uppsala, Sweden. Institute of Experimental Physics-AOP, Johannes-Kepler University Linz, 4040 Linz, Austria.

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http://dx.doi.org/10.1088/1361-648X/ab8cd9DOI Listing
April 2020

Stromal Vascular Fraction and its Role in the Management of Alopecia: A Review.

J Clin Aesthet Dermatol 2019 Nov 1;12(11):35-44. Epub 2019 Nov 1.

Drs. Stefanis, Arenbergerova, and Arenberger are with the Department of Dermatology and Venereology, Faculty Hospital Kralovske Vinohrady and Third Medical Faculty of Charles University in Prague, the Czech Republic.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937163PMC
November 2019

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

High mutational burden in colorectal carcinomas with monoallelic POLE mutations: absence of allelic loss and gene promoter methylation.

Mod Pathol 2020 06 19;33(6):1220-1231. Epub 2019 Dec 19.

Institute of Pathology, University Medicine of Rostock, Strempelstraße 14, 18057, Rostock, Germany.

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http://dx.doi.org/10.1038/s41379-019-0430-6DOI Listing
June 2020

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Clin Genet 2020 Apr 26;97(4):644-648. Epub 2019 Dec 26.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

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http://dx.doi.org/10.1111/cge.13690DOI Listing
April 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

Mov Disord 2020 02 11;35(2):228-230. Epub 2019 Nov 11.

Hebrew University-Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1002/mds.27903DOI Listing
February 2020

Residues of acidic chitinase cause chitinolytic activity degrading chitosan in porcine pepsin preparations.

Sci Rep 2019 10 30;9(1):15609. Epub 2019 Oct 30.

Department of Chemistry and Life Science, Kogakuin University, Hachioji, Tokyo, 192-0015, Japan.

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http://dx.doi.org/10.1038/s41598-019-52136-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821832PMC
October 2019

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.

Int J Mol Sci 2019 Oct 19;20(20). Epub 2019 Oct 19.

Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany.

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http://dx.doi.org/10.3390/ijms20205185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834306PMC
October 2019

Neurons Induced From Fibroblasts of c9ALS/FTD Patients Reproduce the Pathology Seen in the Central Nervous System.

Front Neurosci 2019 6;13:935. Epub 2019 Sep 6.

Department of Clinical Biochemistry, Hematology and Immunology, Na Homolce Hospital, Prague, Czechia.

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http://dx.doi.org/10.3389/fnins.2019.00935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743368PMC
September 2019

Time of Day and its Association with Risk of Death and Chance of Discharge in Critically Ill Patients: A Retrospective Study.

Sci Rep 2019 08 29;9(1):12533. Epub 2019 Aug 29.

Div. of General Anaesthesiology, Emergency- and Intensive Care Medicine Medical University of Graz, Graz, Austria.

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http://dx.doi.org/10.1038/s41598-019-48947-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715801PMC
August 2019

Direct comparison of chitinolytic properties and determination of combinatory effects of mouse chitotriosidase and acidic mammalian chitinase.

Int J Biol Macromol 2019 Aug 17;134:882-890. Epub 2019 May 17.

Department of Chemistry and Life Science, Kogakuin University, Hachioji, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijbiomac.2019.05.097DOI Listing
August 2019

On the Z-dependence of electronic stopping in TiN.

Sci Rep 2019 Jan 17;9(1):176. Epub 2019 Jan 17.

Department of Physics and Astronomy, Uppsala University, Box 516, S-751 20, Uppsala, Sweden.

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http://dx.doi.org/10.1038/s41598-018-36765-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336800PMC
January 2019

Angiogenin production in response to hypoxia and l-mimosine in periodontal fibroblasts.

J Periodontol 2019 06 10;90(6):674-681. Epub 2019 Jan 10.

Department of Conservative Dentistry and Periodontology, University Clinic of Dentistry, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/JPER.18-0172DOI Listing
June 2019

A previously identified missense mutation in STYXL1 is likely benign.

Eur J Med Genet 2019 Nov 22;62(11):103582. Epub 2018 Nov 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.016DOI Listing
November 2019

Line and V-Shape Formation Based Distributed Processing for Robotic Swarms.

Sensors (Basel) 2018 Aug 3;18(8). Epub 2018 Aug 3.

Department of Electrical Engineering, University of Notre Dame, Notre Dame, IN 46656, USA.

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http://dx.doi.org/10.3390/s18082543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6111279PMC
August 2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Unmet needs in human genomic variant interpretation.

Genet Med 2018 03 26;20(3):376-377. Epub 2017 Oct 26.

Centogene AG, Rostock, Germany.

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http://www.nature.com/doifinder/10.1038/gim.2017.187
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http://dx.doi.org/10.1038/gim.2017.187DOI Listing
March 2018

Free-running Sn precipitates: an efficient phase separation mechanism for metastable GeSn epilayers.

Sci Rep 2017 11 23;7(1):16114. Epub 2017 Nov 23.

Institute of Semiconductor and Solid State Physics, Johannes Kepler University Linz, Altenberger Str. 69, 4040, Linz, Austria.

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http://dx.doi.org/10.1038/s41598-017-16356-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700949PMC
November 2017

Weekends affect mortality risk and chance of discharge in critically ill patients: a retrospective study in the Austrian registry for intensive care.

Crit Care 2017 Sep 7;21(1):223. Epub 2017 Sep 7.

Division of General Anesthesiology, Emergency and Intensive Care Medicine, Department of Anesthesiology and Intensive Care Medicine, Medical University of Graz, Auenbruggerplatz 29, A-8036, Graz, Austria.

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http://dx.doi.org/10.1186/s13054-017-1812-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588748PMC
September 2017

Real-time monitoring of 2D semiconductor film growth with optical spectroscopy.

Nanotechnology 2017 Nov;28(46):465601

State Key Laboratory of Precision Measuring Technology and Instruments, Tianjin University, Weijin Road 92, 300072 Tianjin, People's Republic of China.

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http://stacks.iop.org/0957-4484/28/i=46/a=465601?key=crossre
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http://dx.doi.org/10.1088/1361-6528/aa8943DOI Listing
November 2017

Mouse acidic mammalian chitinase exhibits transglycosylation activity at somatic tissue pH.

FEBS Lett 2017 10 30;591(20):3310-3318. Epub 2017 Aug 30.

Department of Chemistry and Life Science, Kogakuin University, Hachioji, Tokyo, Japan.

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http://dx.doi.org/10.1002/1873-3468.12798DOI Listing
October 2017

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Neurology 2017 Sep 9;89(10):1043-1049. Epub 2017 Aug 9.

From the Department of Neurology (I.G., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G., H.J., B.P., T.K.), Bonn; Institute of Medical Genetics and Applied Genomics (F.H., M.S.) and Department of Neurodegenerative Diseases (L.S., M.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (H.J.), Heidelberg University Hospital; Department of Neurology (S.V.), Otto-von-Guericke University Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (S.V., J.M.), Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (L.S., M.S.), Tübingen, Germany; Department of Neurology (C.T., I.M.W.), Oslo University Hospital; Faculty of Medicine (C.T.), Institute of Clinical Medicine, University of Oslo, Norway; Department of Neurology (S.B., A.E.), Medical University Innsbruck, Austria; Department of Neurology (B.v.d.W., J.v.G.), Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology (C.K., A.D.), University of Rostock; German Center for Neurodegenerative Diseases (DZNE) (C.K., A.D.), Rostock; Department of Neurology (J.-S.K.), University of Frankfurt; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Germany; Institute of Neurology (G.S.), Catholic University of Sacred Heart; SPInal REhabilitation Lab (SPIRE) (M.M.), Fondazione Santa Lucia, IRCCS, Rome, Italy; Department of Neurology (T.K., C.N.), Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K., C.N.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich; Department of Neurology (C.G.), University Medical Center Hamburg-Eppendorf (UKE), Germany; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University, Naples, Italy; Centogene AG (P.B.), Rostock, Germany; Pierre Louis Institute of Epidemiology and Public Health (S.T.d.M.), Pierre and Marie Curie University (UPMC); and AP-HP (S.T.d.M.), Biostatistics Unit, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000004311DOI Listing
September 2017

Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia.

J Neuropathol Exp Neurol 2017 Aug;76(8):665-675

Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB).

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http://dx.doi.org/10.1093/jnen/nlx047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901083PMC
August 2017

Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia.

PLoS One 2017 22;12(6):e0178503. Epub 2017 Jun 22.

Institute of Pathology and Neuropathology, Eberhard Karls University of Tübingen and Comprehensive Cancer Center, University Hospital Tübingen, Tübingen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178503PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480878PMC
September 2017

Aldosterone and renin in cardiac patients referred for catheterization.

Medicine (Baltimore) 2017 Jun;96(25):e7282

aLaboratory of Signal Transduction, Department of Biomedicine, University Hospital Basel, Hebelstrasse, Basel bDepartment of Cardiology, Luzerner Kantonsspital, Spitalstrasse, Luzern cClinica dell'Ipertensione Arteriosa, Department of Medicine, University Hospital of Padua, Padua, Italy dDivision of Biostatistics, University of Zurich, EBPI, Hirschengraben, Zürich eInstitute Viollier, Hagmattstrasse, Allschwil, Switzerland fInovise Medical, Inc., Creekside Corporate Park, Nimbus Ave D, Beaverton, OR gAMIS Plus Data Center, University of Zurich, EBPI, Hirschengraben, Zurich, Switzerland.

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http://dx.doi.org/10.1097/MD.0000000000007282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484248PMC
June 2017

Comment on 'A critical evaluation of the current "p-value controversy" '.

Authors:
Peter Bauer

Biom J 2017 09 21;59(5):873-874. Epub 2017 Apr 21.

Center of Medical Statistics, Informatics and Intelligent Systems, Section for Medical Statistics, Spitalgasse 23, A-1090, Vienna, Austria.

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http://dx.doi.org/10.1002/bimj.201700019DOI Listing
September 2017

mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Neurol Genet 2017 Apr 22;3(2):e144. Epub 2017 Mar 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.

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http://dx.doi.org/10.1212/NXG.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363873PMC
April 2017

Munchausen syndrome by genetics: Next-generation challenges for clinicians.

Neurology 2017 03 3;88(10):1000-1001. Epub 2017 Feb 3.

From the Institute of Neurogenetics (S.Z., K.L., C.K., A.M.), University of Lübeck; and the Institute of Medical Genetics and Applied Genomics (P.B.), University Hospital of Tübingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003695DOI Listing
March 2017

Comments on 'Estimands in clinical trials - broadening the perspective'.

Authors:
Peter Bauer

Stat Med 2017 01;36(1):22-23

Institute of Medical Statistics, Center for Medical Statistics, Informatics and Intelligent Systems, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/sim.7162DOI Listing
January 2017

nutritionDay: 10 years of growth.

Clin Nutr 2017 10 11;36(5):1207-1214. Epub 2016 Nov 11.

Division Cardiac-, Thoracic-, Vascular Anaesthesia and Intensive Care, Medical University Vienna, A-1090 Vienna, Austria.

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http://dx.doi.org/10.1016/j.clnu.2016.11.004DOI Listing
October 2017

Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat.

J Psychopharmacol 2017 04 10;31(4):461-473. Epub 2016 Nov 10.

1 Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nürnberg, Germany.

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http://dx.doi.org/10.1177/0269881116675510DOI Listing
April 2017

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Mov Disord 2016 12 26;31(12):1891-1900. Epub 2016 Oct 26.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, Tübingen, Germany.

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http://dx.doi.org/10.1002/mds.26835DOI Listing
December 2016

[Molekulargenetische Diagnostik - Was wissen die Maschinen? Was wollen wir wissen?]

Oncol Res Treat 2016;39 Suppl 2:2-23. Epub 2016 Aug 31.

Institut für Medizinische Genetik und Angewandte Genomik, Tübingen und Centogene AG, Rostock, Deutschland.

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http://dx.doi.org/10.1159/000447548DOI Listing
August 2016