Juliane Winkelmann

Juliane Winkelmann

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Juliane Winkelmann

Publications by authors named "Juliane Winkelmann"

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Role of MEIS1 in restless legs syndrome: From GWAS to functional studies in mice.

Adv Pharmacol 2019 9;84:175-184. Epub 2019 Apr 9.

Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Lehrstuhl für Neurogenetik und Institut für Humangenetik, School of Medicine, Klinikum Rechts der Isar, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/bs.apha.2019.03.003DOI Listing
April 2019

[Exome diagnostics in neurology].

Nervenarzt 2019 Feb;90(2):131-137

Institut für Neurogenomik, Helmholtz Zentrum München, München, Deutschland.

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http://link.springer.com/10.1007/s00115-018-0667-1
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http://dx.doi.org/10.1007/s00115-018-0667-1DOI Listing
February 2019

[Genetics in neurology and psychiatry].

Nervenarzt 2019 Feb;90(2):97-98

Institut für Neurogenomik, Helmholtz Zentrum München, München, Deutschland.

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http://dx.doi.org/10.1007/s00115-019-0672-zDOI Listing
February 2019

Reply to: Safety of dopamine agonists for treating restless legs syndrome.

Mov Disord 2019 01;34(1):150-151

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.27571DOI Listing
January 2019

Comorbidities, treatment, and pathophysiology in restless legs syndrome.

Lancet Neurol 2018 11 21;17(11):994-1005. Epub 2018 Sep 21.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.

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http://dx.doi.org/10.1016/S1474-4422(18)30311-9DOI Listing
November 2018

Restless Legs Syndrome and Other Movement Disorders of Sleep-Treatment Update.

Curr Treat Options Neurol 2018 Nov 9;20(12):55. Epub 2018 Nov 9.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

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http://link.springer.com/10.1007/s11940-018-0540-3
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http://dx.doi.org/10.1007/s11940-018-0540-3DOI Listing
November 2018

Sleep disturbance by pramipexole is modified by Meis1 in mice.

J Sleep Res 2018 08 11;27(4):e12557. Epub 2017 Jul 11.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1111/jsr.12557DOI Listing
August 2018

Austria: Health System Review.

Health Syst Transit 2018 Aug;20(3):1-254

European Observatory on Health Systems and Policies.

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August 2018

Treatment of restless legs syndrome: Evidence-based review and implications for clinical practice (Revised 2017).

Mov Disord 2018 07 14;33(7):1077-1091. Epub 2018 May 14.

CHDI Foundation, Princeton, Princeton, NJ, USA, and the Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1002/mds.27260DOI Listing
July 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

Common Grounds for Family Maladies.

Neuron 2018 05;98(4):671-672

Institute of Neurogenomics, Helmholtz Center Munich, Munich, Germany; Munich Cluster of Systems Neurology (Synergy); Institute of Human Genetics and Department of Neurology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.05.006DOI Listing
May 2018

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).

Parkinsonism Relat Disord 2018 01 14;46:74-78. Epub 2017 Oct 14.

Department of Neurology, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675 München, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.10.008DOI Listing
January 2018

Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.

Mov Disord Clin Pract 2018 Jan-Feb;5(1):89-91. Epub 2017 Dec 3.

Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.

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http://dx.doi.org/10.1002/mdc3.12564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090590PMC
December 2017

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Lancet Neurol 2017 11;16(11):898-907

Institute of Neurogenomics, Helmholtz Zentrum München, German Research Centre for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Neurologische Klinik und Poliklinik, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30327-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755468PMC
November 2017

KMT2B rare missense variants in generalized dystonia.

Mov Disord 2017 Jul 18;32(7):1087-1091. Epub 2017 May 18.

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.27026DOI Listing
July 2017

The former Yugoslav Republic of Macedonia: Health System Review.

Health Syst Transit 2017 May;19(3):1-160

Berlin University of Technology and European Observatory on Health Systems and Policies.

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May 2017

MEIS1 variant as a determinant of autonomic imbalance in Restless Legs Syndrome.

Sci Rep 2017 04 20;7:46620. Epub 2017 Apr 20.

INSERM U1051, Institute for Neurosciences of Montpellier (INM), 80 rue Augustin Fliche, 34091 Montpellier, France.

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http://dx.doi.org/10.1038/srep46620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397858PMC
April 2017

Animal models of RLS phenotypes.

Sleep Med 2017 03 2;31:23-28. Epub 2016 Sep 2.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1016/j.sleep.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5349858PMC
March 2017

Introduction: Towards a better understanding of the science of RLS/WED.

Sleep Med 2017 03 28;31:1-2. Epub 2016 Oct 28.

Johns Hopkins Univ., Dept of Neurology, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2016.10.007DOI Listing
March 2017

Genetics of restless legs syndrome.

Sleep Med 2017 03 12;31:18-22. Epub 2016 Nov 12.

Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.sleep.2016.10.012DOI Listing
March 2017

Neuropeptide S Receptor Gene Variation Differentially Modulates Fronto-Limbic Effective Connectivity in Childhood and Adolescence.

Cereb Cortex 2017 01;27(1):554-566

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany.

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http://dx.doi.org/10.1093/cercor/bhv259DOI Listing
January 2017

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

Parkinsonism Relat Disord 2016 10 25;31:119-123. Epub 2016 Jul 25.

Klinik und Poliklinik für Neurologie, Klinikum Rechts der Isar, Technische Universität München, Munich, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.07.013DOI Listing
October 2016

A TRAPPC6B splicing variant associates to restless legs syndrome.

Parkinsonism Relat Disord 2016 10 18;31:135-138. Epub 2016 Aug 18.

Vita-Salute San Raffaele University and Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.08.016DOI Listing
October 2016

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Mov Disord 2016 05 21;31(5):747-50. Epub 2015 Dec 21.

Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26501DOI Listing
May 2016

Predictors of social leisure activities in older Europeans with and without multimorbidity.

Eur J Ageing 2016;13:129-143. Epub 2016 May 4.

Department of Epidemiology and Biostatistics and the EMGO Institute for Health and Care Research, VU University Medical Center, De Boelelaan 1089a, 1081 HV Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10433-016-0375-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902842PMC
May 2016

Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.

Hum Genome Var 2015 9;2:14028. Epub 2015 Jan 9.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Neuherberg, Germany; Institut für Humangenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Department of Neurology and Neurosciences, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1038/hgv.2014.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785568PMC
April 2016

Restless legs syndrome associated with major diseases: A systematic review and new concept.

Neurology 2016 Apr 4;86(14):1336-1343. Epub 2016 Mar 4.

From Center of Parkinsonism and Movement Disorders (C.T.), Paracelsus-Elena Hospital, Kassel; Departments of Neurosurgery (C.T.) and Clinical Neurophysiology (W.P.), University Medical Center, Göttingen, Germany; Department of Neurology (R.A.), The Johns Hopkins Bayview Medical Center, Baltimore, MD; Department of Neurology (B.H.), Medical University of Innsbruck, Austria; Institute for Neurogenomic (J.W.), Helmholtz Zentrum München, Neuherberg; Neurologische Klinik und Poliklinik (J.W.), Klinikum rechts der Isar, Technische Universität München, Munich; and Munich Cluster for Systems Neurology (SyNergy) (J.W.), Munich, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826337PMC
April 2016

TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.

Mov Disord 2015 Nov 28;30(13):1853-4. Epub 2015 Oct 28.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26458DOI Listing
November 2015

Large-scale TUBB4A mutational screening in isolated dystonia and controls.

Parkinsonism Relat Disord 2015 Oct 20;21(10):1278-81. Epub 2015 Aug 20.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.017DOI Listing
October 2015

Restless legs syndrome-current therapies and management of augmentation.

Nat Rev Neurol 2015 Aug 28;11(8):434-45. Epub 2015 Jul 28.

Department of Clinical Neurophysiology, University Medical Centre Göttingen, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1038/nrneurol.2015.122DOI Listing
August 2015

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Am J Hum Genet 2015 Jun 21;96(6):883-93. Epub 2015 May 21.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, CA 94304, USA; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457951PMC
June 2015

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Mov Disord 2015 May 25;30(6):878-9. Epub 2015 Apr 25.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26233DOI Listing
May 2015

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.

PLoS One 2014 29;9(5):e98092. Epub 2014 May 29.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0098092PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038519PMC
January 2015

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Mov Disord 2014 Oct 20;29(12):1504-10. Epub 2014 Aug 20.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25981DOI Listing
October 2014

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency.

Sleep 2014 Oct 1;37(10):1601-8. Epub 2014 Oct 1.

Center for Sleep Sciences and Medicine, and Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA.

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http://dx.doi.org/10.5665/sleep.4066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173917PMC
October 2014

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nat Commun 2014 Oct 29;5:4926. Epub 2014 Oct 29.

QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.

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http://dx.doi.org/10.1038/ncomms5926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215164PMC
October 2014

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PLoS One 2013 30;8(12):e82879. Epub 2013 Dec 30.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany ; Institut für Humangenetik, Technische Universität München, Munich, Germany ; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany ; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875432PMC
September 2014

Iron in Restless Legs Syndrome.

Mov Disord Clin Pract 2014 Sep 12;1(3):161-172. Epub 2014 Jun 12.

Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universität München Munich Germany.

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http://doi.wiley.com/10.1002/mdc3.12047
Publisher Site
http://dx.doi.org/10.1002/mdc3.12047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183309PMC
September 2014

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.

Am J Hum Genet 2014 Jul;95(1):85-95

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Department of Neurology and Neurosciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085638PMC
July 2014

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Brain 2014 Jun 10;137(Pt 6):1643-55. Epub 2014 Apr 10.

1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy

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http://brain.oxfordjournals.org/content/brain/early/2014/04/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
Publisher Site
http://dx.doi.org/10.1093/brain/awu069DOI Listing
June 2014

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Mov Disord 2014 Jan 22;29(1):143-7. Epub 2013 Oct 22.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25715DOI Listing
January 2014

"Malignant restless legs syndrome"--a curse or a blessing?

Sleep Med 2014 Jan 11;15(1):155-6. Epub 2013 Nov 11.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaningerstr. 22, 81675 München, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Trogerstr. 32, 81675 München, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany; Department of Neurology and Neuroscience, Stanford University, Palo Alto, USA. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2013.10.007DOI Listing
January 2014

Restless legs syndrome: update on pathogenesis.

Curr Opin Pulm Med 2013 Nov;19(6):594-600

aService de Neurologie, Unité des Troubles du Sommeil, Hôpital Gui-de-Chauliac Montpellier bINSERM U1061, Montpellier, France cNeurologische Klinik, Klinikum rechts der Isar, Institut für Humangenetik, Technische Universität München, Institut für Humangenetik, Helmholtz Zentrum München, Munich Cluster for Systems Neurology (SyNergy), Munich, Germany dNeurology and Neuroscience, Stanford University, Palo Alto, USA.

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http://pdfs.journals.lww.com/co-pulmonarymedicine/2013/11000
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http://dx.doi.org/10.1097/MCP.0b013e328365ab07DOI Listing
November 2013

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Authors:
Ashley H Beecham Nikolaos A Patsopoulos Dionysia K Xifara Mary F Davis Anu Kemppinen Chris Cotsapas Tejas S Shah Chris Spencer David Booth An Goris Annette Oturai Janna Saarela Bertrand Fontaine Bernhard Hemmer Claes Martin Frauke Zipp Sandra D'Alfonso Filippo Martinelli-Boneschi Bruce Taylor Hanne F Harbo Ingrid Kockum Jan Hillert Tomas Olsson Maria Ban Jorge R Oksenberg Rogier Hintzen Lisa F Barcellos Cristina Agliardi Lars Alfredsson Mehdi Alizadeh Carl Anderson Robert Andrews Helle Bach Søndergaard Amie Baker Gavin Band Sergio E Baranzini Nadia Barizzone Jeffrey Barrett Céline Bellenguez Laura Bergamaschi Luisa Bernardinelli Achim Berthele Viola Biberacher Thomas M C Binder Hannah Blackburn Izaura L Bomfim Paola Brambilla Simon Broadley Bruno Brochet Lou Brundin Dorothea Buck Helmut Butzkueven Stacy J Caillier William Camu Wassila Carpentier Paola Cavalla Elisabeth G Celius Irène Coman Giancarlo Comi Lucia Corrado Leentje Cosemans Isabelle Cournu-Rebeix Bruce A C Cree Daniele Cusi Vincent Damotte Gilles Defer Silvia R Delgado Panos Deloukas Alessia di Sapio Alexander T Dilthey Peter Donnelly Bénédicte Dubois Martin Duddy Sarah Edkins Irina Elovaara Federica Esposito Nikos Evangelou Barnaby Fiddes Judith Field Andre Franke Colin Freeman Irene Y Frohlich Daniela Galimberti Christian Gieger Pierre-Antoine Gourraud Christiane Graetz Andrew Graham Verena Grummel Clara Guaschino Athena Hadjixenofontos Hakon Hakonarson Christopher Halfpenny Gillian Hall Per Hall Anders Hamsten James Harley Timothy Harrower Clive Hawkins Garrett Hellenthal Charles Hillier Jeremy Hobart Muni Hoshi Sarah E Hunt Maja Jagodic Ilijas Jelčić Angela Jochim Brian Kendall Allan Kermode Trevor Kilpatrick Keijo Koivisto Ioanna Konidari Thomas Korn Helena Kronsbein Cordelia Langford Malin Larsson Mark Lathrop Christine Lebrun-Frenay Jeannette Lechner-Scott Michelle H Lee Maurizio A Leone Virpi Leppä Giuseppe Liberatore Benedicte A Lie Christina M Lill Magdalena Lindén Jenny Link Felix Luessi Jan Lycke Fabio Macciardi Satu Männistö Clara P Manrique Roland Martin Vittorio Martinelli Deborah Mason Gordon Mazibrada Cristin McCabe Inger-Lise Mero Julia Mescheriakova Loukas Moutsianas Kjell-Morten Myhr Guy Nagels Richard Nicholas Petra Nilsson Fredrik Piehl Matti Pirinen Siân E Price Hong Quach Mauri Reunanen Wim Robberecht Neil P Robertson Mariaemma Rodegher David Rog Marco Salvetti Nathalie C Schnetz-Boutaud Finn Sellebjerg Rebecca C Selter Catherine Schaefer Sandip Shaunak Ling Shen Simon Shields Volker Siffrin Mark Slee Per Soelberg Sorensen Melissa Sorosina Mireia Sospedra Anne Spurkland Amy Strange Emilie Sundqvist Vincent Thijs John Thorpe Anna Ticca Pentti Tienari Cornelia van Duijn Elizabeth M Visser Steve Vucic Helga Westerlind James S Wiley Alastair Wilkins James F Wilson Juliane Winkelmann John Zajicek Eva Zindler Jonathan L Haines Margaret A Pericak-Vance Adrian J Ivinson Graeme Stewart David Hafler Stephen L Hauser Alastair Compston Gil McVean Philip De Jager Stephen J Sawcer Jacob L McCauley

Nat Genet 2013 Nov 29;45(11):1353-60. Epub 2013 Sep 29.

1] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA. [2].

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http://dx.doi.org/10.1038/ng.2770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832895PMC
November 2013

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Nat Genet 2013 Jun 21;45(6):670-5. Epub 2013 Apr 21.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667736PMC
June 2013

When restless legs syndrome turns malignant.

Sleep Med 2013 Jun 3;14(6):575-7. Epub 2013 May 3.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaningerstr. 22, 81675 München, Germany.

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http://dx.doi.org/10.1016/j.sleep.2013.02.012DOI Listing
June 2013

The role of SCARB2 as susceptibility factor in Parkinson's disease.

Mov Disord 2013 Apr 13;28(4):538-40. Epub 2013 Feb 13.

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.

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http://dx.doi.org/10.1002/mds.25349DOI Listing
April 2013

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Mov Disord 2013 Feb 19;28(2):224-7. Epub 2012 Nov 19.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25256DOI Listing
February 2013

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Authors:
Luke Jostins Stephan Ripke Rinse K Weersma Richard H Duerr Dermot P McGovern Ken Y Hui James C Lee L Philip Schumm Yashoda Sharma Carl A Anderson Jonah Essers Mitja Mitrovic Kaida Ning Isabelle Cleynen Emilie Theatre Sarah L Spain Soumya Raychaudhuri Philippe Goyette Zhi Wei Clara Abraham Jean-Paul Achkar Tariq Ahmad Leila Amininejad Ashwin N Ananthakrishnan Vibeke Andersen Jane M Andrews Leonard Baidoo Tobias Balschun Peter A Bampton Alain Bitton Gabrielle Boucher Stephan Brand Carsten Büning Ariella Cohain Sven Cichon Mauro D'Amato Dirk De Jong Kathy L Devaney Marla Dubinsky Cathryn Edwards David Ellinghaus Lynnette R Ferguson Denis Franchimont Karin Fransen Richard Gearry Michel Georges Christian Gieger Jürgen Glas Talin Haritunians Ailsa Hart Chris Hawkey Matija Hedl Xinli Hu Tom H Karlsen Limas Kupcinskas Subra Kugathasan Anna Latiano Debby Laukens Ian C Lawrance Charlie W Lees Edouard Louis Gillian Mahy John Mansfield Angharad R Morgan Craig Mowat William Newman Orazio Palmieri Cyriel Y Ponsioen Uros Potocnik Natalie J Prescott Miguel Regueiro Jerome I Rotter Richard K Russell Jeremy D Sanderson Miquel Sans Jack Satsangi Stefan Schreiber Lisa A Simms Jurgita Sventoraityte Stephan R Targan Kent D Taylor Mark Tremelling Hein W Verspaget Martine De Vos Cisca Wijmenga David C Wilson Juliane Winkelmann Ramnik J Xavier Sebastian Zeissig Bin Zhang Clarence K Zhang Hongyu Zhao Mark S Silverberg Vito Annese Hakon Hakonarson Steven R Brant Graham Radford-Smith Christopher G Mathew John D Rioux Eric E Schadt Mark J Daly Andre Franke Miles Parkes Severine Vermeire Jeffrey C Barrett Judy H Cho

Nature 2012 Nov;491(7422):119-24

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK.

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http://dx.doi.org/10.1038/nature11582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491803PMC
November 2012

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Neurogenetics 2012 Aug 16;13(3):281-5. Epub 2012 Jun 16.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaningerstr 22, 81675 Munich, Germany.

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August 2012

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes.

Genet Epidemiol 2012 Apr;36(3):244-52

Institute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Ingolstadter Landstraße 1, Neuherberg, Germany.

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http://dx.doi.org/10.1002/gepi.21617DOI Listing
April 2012

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Authors:
Stephen Sawcer Garrett Hellenthal Matti Pirinen Chris C A Spencer Nikolaos A Patsopoulos Loukas Moutsianas Alexander Dilthey Zhan Su Colin Freeman Sarah E Hunt Sarah Edkins Emma Gray David R Booth Simon C Potter An Goris Gavin Band Annette Bang Oturai Amy Strange Janna Saarela Céline Bellenguez Bertrand Fontaine Matthew Gillman Bernhard Hemmer Rhian Gwilliam Frauke Zipp Alagurevathi Jayakumar Roland Martin Stephen Leslie Stanley Hawkins Eleni Giannoulatou Sandra D'alfonso Hannah Blackburn Filippo Martinelli Boneschi Jennifer Liddle Hanne F Harbo Marc L Perez Anne Spurkland Matthew J Waller Marcin P Mycko Michelle Ricketts Manuel Comabella Naomi Hammond Ingrid Kockum Owen T McCann Maria Ban Pamela Whittaker Anu Kemppinen Paul Weston Clive Hawkins Sara Widaa John Zajicek Serge Dronov Neil Robertson Suzannah J Bumpstead Lisa F Barcellos Rathi Ravindrarajah Roby Abraham Lars Alfredsson Kristin Ardlie Cristin Aubin Amie Baker Katharine Baker Sergio E Baranzini Laura Bergamaschi Roberto Bergamaschi Allan Bernstein Achim Berthele Mike Boggild Jonathan P Bradfield David Brassat Simon A Broadley Dorothea Buck Helmut Butzkueven Ruggero Capra William M Carroll Paola Cavalla Elisabeth G Celius Sabine Cepok Rosetta Chiavacci Françoise Clerget-Darpoux Katleen Clysters Giancarlo Comi Mark Cossburn Isabelle Cournu-Rebeix Mathew B Cox Wendy Cozen Bruce A C Cree Anne H Cross Daniele Cusi Mark J Daly Emma Davis Paul I W de Bakker Marc Debouverie Marie Beatrice D'hooghe Katherine Dixon Rita Dobosi Bénédicte Dubois David Ellinghaus Irina Elovaara Federica Esposito Claire Fontenille Simon Foote Andre Franke Daniela Galimberti Angelo Ghezzi Joseph Glessner Refujia Gomez Olivier Gout Colin Graham Struan F A Grant Franca Rosa Guerini Hakon Hakonarson Per Hall Anders Hamsten Hans-Peter Hartung Rob N Heard Simon Heath Jeremy Hobart Muna Hoshi Carmen Infante-Duarte Gillian Ingram Wendy Ingram Talat Islam Maja Jagodic Michael Kabesch Allan G Kermode Trevor J Kilpatrick Cecilia Kim Norman Klopp Keijo Koivisto Malin Larsson Mark Lathrop Jeannette S Lechner-Scott Maurizio A Leone Virpi Leppä Ulrika Liljedahl Izaura Lima Bomfim Robin R Lincoln Jenny Link Jianjun Liu Aslaug R Lorentzen Sara Lupoli Fabio Macciardi Thomas Mack Mark Marriott Vittorio Martinelli Deborah Mason Jacob L McCauley Frank Mentch Inger-Lise Mero Tania Mihalova Xavier Montalban John Mottershead Kjell-Morten Myhr Paola Naldi William Ollier Alison Page Aarno Palotie Jean Pelletier Laura Piccio Trevor Pickersgill Fredrik Piehl Susan Pobywajlo Hong L Quach Patricia P Ramsay Mauri Reunanen Richard Reynolds John D Rioux Mariaemma Rodegher Sabine Roesner Justin P Rubio Ina-Maria Rückert Marco Salvetti Erika Salvi Adam Santaniello Catherine A Schaefer Stefan Schreiber Christian Schulze Rodney J Scott Finn Sellebjerg Krzysztof W Selmaj David Sexton Ling Shen Brigid Simms-Acuna Sheila Skidmore Patrick M A Sleiman Cathrine Smestad Per Soelberg Sørensen Helle Bach Søndergaard Jim Stankovich Richard C Strange Anna-Maija Sulonen Emilie Sundqvist Ann-Christine Syvänen Francesca Taddeo Bruce Taylor Jenefer M Blackwell Pentti Tienari Elvira Bramon Ayman Tourbah Matthew A Brown Ewa Tronczynska Juan P Casas Niall Tubridy Aiden Corvin Jane Vickery Janusz Jankowski Pablo Villoslada Hugh S Markus Kai Wang Christopher G Mathew James Wason Colin N A Palmer H-Erich Wichmann Robert Plomin Ernest Willoughby Anna Rautanen Juliane Winkelmann Michael Wittig Richard C Trembath Jacqueline Yaouanq Ananth C Viswanathan Haitao Zhang Nicholas W Wood Rebecca Zuvich Panos Deloukas Cordelia Langford Audrey Duncanson Jorge R Oksenberg Margaret A Pericak-Vance Jonathan L Haines Tomas Olsson Jan Hillert Adrian J Ivinson Philip L De Jager Leena Peltonen Graeme J Stewart David A Hafler Stephen L Hauser Gil McVean Peter Donnelly Alastair Compston

Nature 2011 Aug 10;476(7359):214-9. Epub 2011 Aug 10.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182531PMC
August 2011

[Treatment of secondary restless legs syndrome].

MMW Fortschr Med 2011 May;153(21):45-8; quiz 49

Klinik für Neurologie, Klinikum rechts der Isar, Technische Universität München.

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May 2011