Publications by authors named "Barbara Schormair"

28Publications

Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome.

J Clin Sleep Med 2020 Oct;16(10):1815-1817

Institute of Neurogenomics, Helmholtz Zentrum München GmbH - German Research Center for Environmental Health, Neuherberg, Germany.

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http://dx.doi.org/10.5664/jcsm.8696DOI Listing
October 2020

[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

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

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

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

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

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

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

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

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