Barbara Schormair: search on Z-Library

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1

Exomdiagnostik in der Neurologie; Exome diagnostics in neurology;

Zech, Michael, Wagner, Matias, Schormair, Barbara, Oexle, Konrad, Winkelmann, Juliane

Journal:

Year:

2019

Language:

german

File:

PDF, 488 KB

german, 2019

2

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Zech, Michael, Lam, Daniel D., Francescatto, Ludmila, Schormair, Barbara, Salminen, Aaro V., Jochim, Angela, Wieland, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Lochmüller, Hanns, St

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

3

Genetics of Restless Legs Syndrome: Mendelian, Complex, and Everything in Between

Schormair, Barbara, Winkelmann, Juliane

Journal:

Sleep Medicine Clinics

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

4

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

Salminen, Aaro V., Schandra, Nathalie, Schormair, Barbara, Oexle, Konrad, Winkelmann, Juliane

Journal:

Journal of Clinical Sleep Medicine

Year:

2020

File:

PDF, 456 KB

2020

5

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

Zech, Michael, Castrop, Florian, Schormair, Barbara, Jochim, Angela, Wieland, Thomas, Gross, Nadine, Lichtner, Peter, Peters, Annette, Gieger, Christian, Meitinger, Thomas, Strom, Tim M., Oexle, Konra

Journal:

Movement Disorders

Year:

2014

Language:

english

File:

PDF, 426 KB

english, 2014

6

Iron in Restless Legs Syndrome

Schulte, Eva C., Kaffe, Maria, Schormair, Barbara, Winkelmann, Juliane

Journal:

Movement Disorders Clinical Practice

Year:

2014

Language:

english

File:

PDF, 168 KB

english, 2014

7

HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency

Han, Fang, Lin, Ling, Schormair, Barbara, Pizza, Fabio, Plazzi, Giuseppe, Ollila, Hanna M., Nevsimalova, Sona, Jennum, Poul, Knudsen, Stine, Winkelmann, Juliane, Coquillard, Cristin, Babrzadeh, Farbod

Journal:

Year:

2014

Language:

english

File:

PDF, 258 KB

english, 2014

8

NovelSCARB2mutation in action myoclonus-renal failure syndrome and evaluation ofSCARB2mutations in isolated AMRF features

Franziska Hopfner, Barbara Schormair, Franziska Knauf, Achim Berthele, Thomas R Tölle, Ralf Baron, Christoph Maier, Rolf-Detlef Treede, Andreas Binder, Claudia Sommer, Christian Maihöfner, Wolfram Kun

Journal:

Year:

2011

Language:

english

File:

PDF, 432 KB

english, 2011

9

Rare variants inLRRK1and Parkinson's disease

Schulte, Eva C., Ellwanger, Daniel C., Dihanich, Sybille, Manzoni, Claudia, Stangl, Katrin, Schormair, Barbara, Graf, Elisabeth, Eck, Sebastian, Mollenhauer, Brit, Haubenberger, Dietrich, Pirker, Walt

Journal:

Year:

2014

Language:

english

File:

PDF, 2.82 MB

english, 2014

10

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

Zech, Michael, Boesch, Sylvia, Jochim, Angela, Weber, Sandrina, Meindl, Tobias, Schormair, Barbara, Wieland, Thomas, Lunetta, Christian, Sansone, Valeria, Messner, Michael, Mueller, Joerg, Ceballos-Ba

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 656 KB

english, 2016

11

Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome

Juliane Winkelmann, Peter Lichtner, Barbara Schormair, Manfred Uhr, Stephanie Hauk, Karin Stiasny-Kolster, Claudia Trenkwalder, Walter Paulus, Ines Peglau, Ilonka Eisensehr, Thomas Illig, H.-Erich Wic

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 277 KB

english, 2008

12

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

Fulda, Stephany, Pütz, Benno, Eckstein, Gertrud, Hauk, Stephanie, Winkelmann, Juliane, Schormair, Barbara, Lichtner, Peter, Ripke, Stephan, Xiong, Lan, Jalilzadeh, Shapour

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 526 KB

english, 2007

13

Identification of Restless Legs Syndrome Genes by Mutational Load Analysis

Tilch, Erik, Schormair, Barbara, Zhao, Chen, Salminen, Aaro V., Antic Nikolic, Ana, Holzknecht, Evi, Högl, Birgit, Poewe, Werner, Bachmann, Cornelius G., Paulus, Walter, Trenkwalder, Claudia, Oertel,

Journal:

Annals of Neurology

Year:

2019

File:

PDF, 1.72 MB

2019

14

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

Schormair, Barbara, Kemlink, David, Roeske, Darina, Eckstein, Gertrud, Xiong, Lan, Lichtner, Peter, Ripke, Stephan, Trenkwalder, Claudia, Zimprich, Alexander, Stiasny-Kolster, Karin

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 277 KB

english, 2008

15

Comorbidities, treatment, and pathophysiology in restless legs syndrome

Trenkwalder, Claudia, Allen, Richard, Högl, Birgit, Clemens, Stefan, Patton, Stephanie, Schormair, Barbara, Winkelmann, Juliane

Journal:

The Lancet Neurology

Year:

2018

Language:

english

File:

PDF, 503 KB

english, 2018

16

Dilution of candidates: the case of iron-related genes in restless legs syndrome

Oexle, Konrad, Schormair, Barbara, Ried, Janina S, Czamara, Darina, Heim, Katharina, Frauscher, Birgit, Högl, Birgit, Trenkwalder, Claudia, Martin Fiedler, G, Thiery, Joachim, Lichtner, Peter, Prokisc

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 279 KB

english, 2013

17

Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

Winkelmann, Juliane, Czamara, Darina, Schormair, Barbara, Knauf, Franziska, Schulte, Eva C., Trenkwalder, Claudia, Dauvilliers, Yves, Polo, Olli, Högl, Birgit, Berger, Klaus, Fuhs, Andrea, Gross, Nadi

Journal:

Year:

2011

Language:

english

File:

PDF, 709 KB

english, 2011

18

Sleep disturbance by pramipexole is modified by Meis1 in mice

Salminen, Aaro V., Schormair, Barbara, Flachskamm, Cornelia, Torres, Miguel, Müller-Myhsok, Bertram, Kimura, Mayumi, Winkelmann, Juliane

Journal:

Journal of Sleep Research

Year:

2017

Language:

english

File:

PDF, 684 KB

english, 2017

19

Genetics of restless legs syndrome

Winkelmann, Juliane, Schormair, Barbara, Xiong, Lan, Dion, Patrick A., Rye, David B., Rouleau, Guy A.

Journal:

Year:

2017

Language:

english

File:

PDF, 493 KB

english, 2017

20

Meis1 effects on motor phenotypes and the sensorimotor system in mice

Salminen, Aaro V., Garrett, Lillian, Schormair, Barbara, Rozman, Jan, Giesert, Florian, Niedermeier, Kristina M., Becker, Lore, Rathkolb, Birgit, Rácz, Ildikó, Klingenspor, Martin, Klopstock, Thomas,

Journal:

Disease Models & Mechanisms

Year:

2017

Language:

english

File:

PDF, 1.57 MB

english, 2017

21

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

Schormair, Barbara, Zhao, Chen, Bell, Steven, Tilch, Erik, Salminen, Aaro V, Pütz, Benno, Dauvilliers, Yves, Stefani, Ambra, Högl, Birgit, Poewe, Werner, Kemlink, David, Sonka, Karel, Bachmann, Cornel

Journal:

The Lancet Neurology

Year:

2017

Language:

english

File:

PDF, 532 KB

english, 2017

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