Works by Reich, Selina

Results: 11

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111

By:

Hengel, Holger;
Hannan, Shabab B;
Reich, Selina;
Beijer, Danique;
Roller, Johanna;
Gilsbach, Bernd K;
Gloeckner, Christian Johannes;
Greene, Daniel;
Timmann, Dagmar;
Depienne, Christel;
Mumford, Andrew;
O'Driscoll, Mary;
Nemeth, Andrea H;
Lundberg, Julie;
Rodan, Lance H;
Bruel, Ange-Line;
Delanne, Julian;
Deconinck, Tine;
Baets, Jonathan;
Gan-Or, Ziv

Publication type:

Article

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 46, doi. 10.1093/hmg/ddac173

By:

Fazal, Sarah;
Danzi, Matt C;
Kuilenburg, André B P van;
Reich, Selina;
Traschütz, Andreas;
Bender, Benjamin;
Leen, René;
Toro, Camilo;
Usdin, Karen;
Hayward, Bruce;
Adams, David R;
Karnebeek, Clara D M van;
Ferreira, Carlos R;
D'Sousa, Precilla;
Network, Undiagnosed Diseases;
Tekin, Mustafa;
Züchner, Stephan;
Synofzik, Matthis

Publication type:

Article

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551

By:

Traschütz, Andreas;
Reich, Selina;
Adarmes, Astrid D.;
Anheim, Mathieu;
Ashrafi, Mahmoud Reza;
Baets, Jonathan;
Basak, A. Nazli;
Bertini, Enrico;
Brais, Bernard;
Gagnon, Cynthia;
Gburek-Augustat, Janina;
Hanagasi, Hasmet A.;
Heinzmann, Anna;
Horvath, Rita;
de Jonghe, Peter;
Kamm, Christoph;
Klivenyi, Peter;
Klopstock, Thomas;
Minnerop, Martina;
Münchau, Alexander

Publication type:

Article

Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.

Published in:

Annals of Neurology, 2022, v. 91, n. 1, p. 33, doi. 10.1002/ana.26265

By:

Wilke, Carlo;
Reich, Selina;
van Swieten, John C.;
Borroni, Barbara;
Sanchez‐Valle, Raquel;
Moreno, Fermin;
Laforce, Robert;
Graff, Caroline;
Galimberti, Daniela;
Rowe, James B.;
Masellis, Mario;
Tartaglia, Maria C.;
Finger, Elizabeth;
Vandenberghe, Rik;
de Mendonça, Alexandre;
Tagliavini, Fabrizio;
Santana, Isabel;
Ducharme, Simon;
Butler, Chris R.;
Gerhard, Alexander

Publication type:

Article

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Published in:

2020

By:

Traschütz, Andreas;
Schirinzi, Tommaso;
Laugwitz, Lucia;
Murray, Nathan H.;
Bingman, Craig A.;
Reich, Selina;
Kern, Jan;
Heinzmann, Anna;
Vasco, Gessica;
Bertini, Enrico;
Zanni, Ginevra;
Durr, Alexandra;
Magri, Stefania;
Taroni, Franco;
Malandrini, Alessandro;
Baets, Jonathan;
Jonghe, Peter;
Ridder, Willem;
Bereau, Matthieu;
Demuth, Stephanie

Publication type:

journal article

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

Published in:

Journal of Neurology, 2021, v. 268, n. 10, p. 3845, doi. 10.1007/s00415-021-10524-7

By:

Mengel, David;
Traschütz, Andreas;
Reich, Selina;
Leyva-Gutiérrez, Alejandra;
Bender, Friedemann;
Hauser, Stefan;
Haack, Tobias B.;
Synofzik, Matthis

Publication type:

Article

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12620-9

By:

Wagner, Matias;
Osborn, Daniel P. S.;
Gehweiler, Ina;
Nagel, Maike;
Ulmer, Ulrike;
Bakhtiari, Somayeh;
Amouri, Rim;
Boostani, Reza;
Hentati, Faycal;
Hockley, Maryam M.;
Hölbling, Benedikt;
Schwarzmayr, Thomas;
Karimiani, Ehsan Ghayoor;
Kernstock, Christoph;
Maroofian, Reza;
Müller-Felber, Wolfgang;
Ozkan, Ege;
Padilla-Lopez, Sergio;
Reich, Selina;
Reichbauer, Jennifer

Publication type:

Article

CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.

Published in:

Molecular Neurobiology, 2020, v. 57, n. 2, p. 616, doi. 10.1007/s12035-019-01727-1

By:

Kizner, Valeria;
Naujock, Maximilian;
Fischer, Sandra;
Jäger, Stefan;
Reich, Selina;
Schlotthauer, Ines;
Zuckschwerdt, Kai;
Geiger, Tobias;
Hildebrandt, Tobias;
Lawless, Nathan;
Macartney, Thomas;
Dorner-Ciossek, Cornelia;
Gillardon, Frank

Publication type:

Article

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

Published in:

Movement Disorders, 2024, v. 39, n. 9, p. 1544, doi. 10.1002/mds.29876

By:

Beichert, Lukas;
Ilg, Winfried;
Kessler, Christoph;
Traschütz, Andreas;
Reich, Selina;
Santorelli, Filippo M.;
Başak, Ayşe Nazli;
Gagnon, Cynthia;
Schüle, Rebecca;
Synofzik, Matthis

Publication type:

Article

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Published in:

2017

By:

Hayer, Stefanie Nicole;
Deconinck, Tine;
Bender, Benjamin;
Smets, Katrien;
Züchner, Stephan;
Reich, Selina;
Schöls, Ludger;
Schüle, Rebecca;
De Jonghe, Peter;
Baets, Jonathan;
Synofzik, Matthis

Publication type:

journal article

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 4, p. e24, doi. 10.1093/brain/awae402

By:

Kiesel, Ann-Sophie;
Laugwitz, Lucia;
Buchert, Rebecca;
Grimmel, Mona;
Baumann, Sarah;
Sturm, Marc;
Reich, Selina;
Pauly, Martje G;
Brüggemann, Norbert;
Münchau, Alexander;
Oleksiuk, Olga;
Synofzik, Matthis;
Haack, Tobias B;
Peralta, Susana

Publication type:

Article