Barbara Schormair : rechercher sur 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:

Année:

2019

Langue:

german

Fichier:

PDF, 488 KB

german, 2019

2

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

Année:

2008

Langue:

english

Fichier:

PDF, 277 KB

english, 2008

3

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:

Année:

2011

Langue:

english

Fichier:

PDF, 432 KB

english, 2011

4

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

Année:

2008

Langue:

english

Fichier:

PDF, 277 KB

english, 2008

5

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

Année:

2007

Langue:

english

Fichier:

PDF, 526 KB

english, 2007

6

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:

Année:

2014

Langue:

english

Fichier:

PDF, 2.82 MB

english, 2014

7

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

Schormair, Barbara, Winkelmann, Juliane

Journal:

Sleep Medicine Clinics

Année:

2011

Langue:

english

Fichier:

PDF, 265 KB

english, 2011

8

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

Année:

2014

Langue:

english

Fichier:

PDF, 426 KB

english, 2014

9

Iron in Restless Legs Syndrome

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

Journal:

Movement Disorders Clinical Practice

Année:

2014

Langue:

english

Fichier:

PDF, 168 KB

english, 2014

10

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2015

11

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

Année:

2013

Langue:

english

Fichier:

PDF, 279 KB

english, 2013

12

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:

Année:

2011

Langue:

english

Fichier:

PDF, 709 KB

english, 2011

13

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

Année:

2016

Langue:

english

Fichier:

PDF, 656 KB

english, 2016

14

Genetics of restless legs syndrome

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

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 493 KB

english, 2017

15

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

Année:

2017

Langue:

english

Fichier:

PDF, 1.57 MB

english, 2017

16

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

Année:

2017

Langue:

english

Fichier:

PDF, 684 KB

english, 2017

17

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

Année:

2017

Langue:

english

Fichier:

PDF, 532 KB

english, 2017

18

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:

Année:

2014

Langue:

english

Fichier:

PDF, 258 KB

english, 2014

19

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

Année:

2018

Langue:

english

Fichier:

PDF, 503 KB

english, 2018

20

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

Année:

2019

Fichier:

PDF, 1.72 MB

2019

21

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

Année:

2020

Fichier:

PDF, 456 KB

2020