Search

Author/Creator Beijer, Danique

1. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Issue 6 (12th February 2022)

Authors:
Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot‐Noël, Léna; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Bric...
Journal:
Movement disorders
Issue:
Volume 37:Issue 6(2022)
Page Start:
1175
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy. (21st November 2022)

Authors:
Cipriani, Silvia; Guerrero‐Valero, Marta; Tozza, Stefano; Zhao, Edward; Vollmer, Veith; Beijer, Danique; Danzi, Matt; Rivellini, Cristina; Lazarevic, Dejan; Pipitone, Giovanni Battista; Grosz, Bianca Rose; Lamperti, Costanza; Marzoli, Stefania Bianchi; Carrera, Paola; Devoto, Marcella; Pisci...
Journal:
European journal of neurology
Issue:
Volume 30:Number 2(2023)
Page Start:
511
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. (23rd March 2022)

Authors:
Beijer, Danique; Dohrn, Maike F.; De Winter, Jonathan; Fazal, Sarah; Cortese, Andrea; Stojkovic, Tanya; Fernández‐Eulate, Gorka; Remiche, Gauthier; Gentile, Mattia; Van Coster, Rudy; Dufke, Claudia; Synofzik, Matthis; De Jonghe, Peter; Züchner, Stephan; Baets, Jonathan
Journal:
European journal of neurology
Issue:
Volume 29:Number 7(2022)
Page Start:
2156
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. (April 2018)

Authors:
Salter, Claire G.; Beijer, Danique; Hardy, Holly; Barwick, Katy E.S.; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A.; McEntagart, Meriel M.; Chioza, Barry A.; Blakely, Randy D.; Chilton, John K.; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L.; Walk, David; C...
Journal:
Neurology
Issue:
Volume 4:Number 2(2018)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗