Browsing Universitätsbibliographie by Author "Beijer, Danique"

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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

Beijer, Danique; Dohrn, Maike F.; Rebelo, Adriana; Danzi, Matt C.; Grosz, Bianca Rose; Ellis, Melina; Kumar, Kishore R.; Vucic, Steve; Vais, Horia; Weissenrieder, Jillian S.; Lunko, Olesia; Paudel, Usha; Simpson, Leah C.; Camarena, Vladimir; Raposo, Jacquelyn; Saporta, Mario; Arcia, Yeisha; Xu, Isaac; Feely, Shawna; Record, Christopher J.; Blake, Julian; Reilly, Mary M.; Scherer, Steven S.; Kennerson, Marina; Lee, Yi-Chung; Foskett, J. Kevin; Shy, Michael E.; Inherited Neuropathy Consortium, Stephan; Zuchner, Stephan (2024)
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

Cheerie, David; Meserve, Margaret M.; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Tavares, Ana Lisa Taylor; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J.; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S. Y.; Morgan, Jack T.; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E.; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia J.; Whittle, Ella F.; Zardetto, Bianca; Yu, Timothy W.; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C. (2025)
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Dohrn, Maike F.; Beijer, Danique; Lone, Museer A.; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A. Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J.; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C.; Synofzik, Matthis; Boennemann, Carsten G.; Basak, A. Nazli; Hornemann, Thorsten; Zuchner, Stephan (2024)
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Beijer, Danique; Fogel, Brent; Beltran, Sergi; Danzi, Matt; Nemeth, Andrea; Zuchner, Stephan; Synofzik, Matthis (2024)
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

Beijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis (2025)

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