Results
|
|
1.
|
|
|
|
2.
|
Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity. [electronic resource] by
- Ilg, Winfried
- Fleszar, Zofia
- Schatton, Cornelia
- Hengel, Holger
- Harmuth, Florian
- Bauer, Peter
- Timmann, Dagmar
- Giese, Martin
- Schöls, Ludger
- Synofzik, Matthis
Producer: 20171229
In:
Movement disorders : official journal of the Movement Disorder Society vol. 31
Availability: No items available.
|
|
|
3.
|
Aicardi-Goutières syndrome due to a paternal mosaic [electronic resource] by
- Tüngler, Victoria
- Doebler-Neumann, Marion
- Salandin, Michaela
- Kaufmann, Peter
- Wolf, Christine
- Lucas, Nadja
- Harmuth, Florian
- Reichbauer, Jennifer
- Krägeloh-Mann, Ingeborg
- Schüle, Rebecca
- Lee-Kirsch, Min Ae
Publication details: Neurology. Genetics Feb 2020
In:
Neurology. Genetics vol. 6
Availability: No items available.
|
|
|
4.
|
HBOC multi-gene panel testing: comparison of two sequencing centers. [electronic resource] by
- Schroeder, Christopher
- Faust, Ulrike
- Sturm, Marc
- Hackmann, Karl
- Grundmann, Kathrin
- Harmuth, Florian
- Bosse, Kristin
- Kehrer, Martin
- Benkert, Tanja
- Klink, Barbara
- Mackenroth, Luisa
- Betcheva-Krajcir, Elitza
- Wimberger, Pauline
- Kast, Karin
- Heilig, Mechthilde
- Nguyen, Huu Phuc
- Riess, Olaf
- Schröck, Evelin
- Bauer, Peter
- Rump, Andreas
Producer: 20160304
In:
Breast cancer research and treatment vol. 152
Availability: No items available.
|
|
|
5.
|
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. [electronic resource] by
- Mademan, Inès
- Harmuth, Florian
- Giordano, Ilaria
- Timmann, Dagmar
- Magri, Stefania
- Deconinck, Tine
- Claaßen, Jens
- Jokisch, Daniel
- Genc, Gencer
- Di Bella, Daniela
- Romito, Silvia
- Schüle, Rebecca
- Züchner, Stephan
- Taroni, Franco
- Klockgether, Thomas
- Schöls, Ludger
- De Jonghe, Peter
- Bauer, Peter
- Consortium, Eoa
- Baets, Jonathan
- Synofzik, Matthis
Producer: 20180131
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
|
|
|
6.
|
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. [electronic resource] by
- Synofzik, Matthis
- Helbig, Katherine L
- Harmuth, Florian
- Deconinck, Tine
- Tanpaiboon, Pranoot
- Sun, Bo
- Guo, Wenting
- Wang, Ruiwu
- Palmaer, Erika
- Tang, Sha
- Schaefer, G Bradley
- Gburek-Augustat, Janina
- Züchner, Stephan
- Krägeloh-Mann, Ingeborg
- Baets, Jonathan
- de Jonghe, Peter
- Bauer, Peter
- Chen, S R Wayne
- Schöls, Ludger
- Schüle, Rebecca
Producer: 20190315
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
|
|
|
7.
|
A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats. [electronic resource] by
- Nuber, Silke
- Harmuth, Florian
- Kohl, Zacharias
- Adame, Anthony
- Trejo, Margaritha
- Schönig, Kai
- Zimmermann, Frank
- Bauer, Claudia
- Casadei, Nicolas
- Giel, Christiane
- Calaminus, Carsten
- Pichler, Bernd J
- Jensen, Poul H
- Müller, Christian P
- Amato, Davide
- Kornhuber, Johannes
- Teismann, Peter
- Yamakado, Hodaka
- Takahashi, Ryosuke
- Winkler, Juergen
- Masliah, Eliezer
- Riess, Olaf
Producer: 20130410
In:
Brain : a journal of neurology vol. 136
Availability: No items available.
|
|
|
8.
|
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. [electronic resource] by
- Giordano, Ilaria
- Harmuth, Florian
- Jacobi, Heike
- Paap, Brigitte
- Vielhaber, Stefan
- Machts, Judith
- Schöls, Ludger
- Synofzik, Matthis
- Sturm, Marc
- Tallaksen, Chantal
- Wedding, Iselin M
- Boesch, Sylvia
- Eigentler, Andreas
- van de Warrenburg, Bart
- van Gaalen, Judith
- Kamm, Christoph
- Dudesek, Ales
- Kang, Jun-Suk
- Timmann, Dagmar
- Silvestri, Gabriella
- Masciullo, Marcella
- Klopstock, Thomas
- Neuhofer, Christiane
- Ganos, Christos
- Filla, Alessandro
- Bauer, Peter
- Tezenas du Montcel, Sophie
- Klockgether, Thomas
Producer: 20170908
In:
Neurology vol. 89
Availability: No items available.
|