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Author/Creator Weber, Sandrina

1. Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up. Issue 4 (26th September 2016)

Authors:
Zech, Michael; Boesch, Sylvia; Jochim, Angela; Weber, Sandrina; Meindl, Tobias; Schormair, Barbara; Wieland, Thomas; Lunetta, Christian; Sansone, Valeria; Messner, Michael; Mueller, Joerg; Ceballos‐Baumann, Andres; Strom, Tim M.; Colombo, Roberto; Poewe, Werner; Haslinger, Bernhard; Winkelmann, J...
Journal:
Movement disorders
Issue:
Volume 32:Issue 4(2017)
Page Start:
549
Record Type:
Journal Article
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2. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. (March 2021)

Authors:
Zech, Michael; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Ganai, Shahzaman; Mosejová, Alexandra; Příhodová, Iva; Šarláková, Jana; Kulcsarová, Kristína; Ulmanová, Ol...
Journal:
Parkinsonism & related disorders
Issue:
Volume 84(2021)
Page Start:
129
Record Type:
Journal Article
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3. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021)

Authors:
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 1(2021)
Page Start:
14
Record Type:
Journal Article
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4. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. Issue 9 (21st February 2020)

Authors:
Krenn, Martin; Wagner, Matias; Hotzy, Christoph; Graf, Elisabeth; Weber, Sandrina; Brunet, Theresa; Lorenz-Depiereux, Bettina; Kasprian, Gregor; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Stogmann, Elisabeth; Zimprich, Alexander; Strom, Tim M; Meitinger, Thomas; Zimprich, Fritz
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 9(2020)
Page Start:
624
Record Type:
Journal Article
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5. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020)

Authors:
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,...
Journal:
Lancet neurology
Issue:
Volume 19:Issue 11(2020)
Page Start:
908
Record Type:
Journal Article
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6. Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. (October 2016)

Authors:
Zech, Michael; Jochim, Angela; Boesch, Sylvia; Weber, Sandrina; Meindl, Tobias; Peters, Annette; Gieger, Christian; Mueller, Joerg; Messner, Michael; Ceballos-Baumann, Andres; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane
Journal:
Parkinsonism & related disorders
Issue:
Volume 31(2016)
Page Start:
119
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗