Works by Beijer, Danique

Results: 20
    1

    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
    2

    Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070
    By:
    • Beijer, Danique;
    • Marte, Sheila;
    • Li, Jiaxin C;
    • Ridder, Willem De;
    • Chen, Jessie Z;
    • Tadenev, Abigail L D;
    • Miers, Kathy E;
    • Deconinck, Tine;
    • Macdonell, Richard;
    • Marques, Wilson;
    • Jonghe, Peter De;
    • Pratt, Samia L;
    • Meyer-Schuman, Rebecca;
    • Züchner, Stephan;
    • Antonellis, Anthony;
    • Burgess, Robert W;
    • Baets, Jonathan
    Publication type:
    Article
    3

    Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.

    Published in:
    Cerebellum, 2024, v. 23, n. 2, p. 391, doi. 10.1007/s12311-023-01537-1
    By:
    • Beijer, Danique;
    • Fogel, Brent L.;
    • Beltran, Sergi;
    • Danzi, Matt C.;
    • Németh, Andrea H.;
    • Züchner, Stephan;
    • Synofzik, Matthis;
    • AGI Ataxia NGS genomics, platforms Working Group;
    • Adarmes, Astrid;
    • Alhusaini, Saud;
    • Ashrafi, Mahmoud Reza;
    • Bataller, Luis;
    • Bertini, Enrico;
    • Boesch, Sylvia;
    • Buijsen, Ronald;
    • Cassou, Emanuel;
    • Chan, Edwin;
    • Damásio, Joana;
    • Donis, Karina;
    • Elert-Dobkowska, Ewelina
    Publication type:
    Article
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    Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 2, p. 511, doi. 10.1111/ene.15601
    By:
    • 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;
    • Pisciotta, Chiara;
    • Pareyson, Davide;
    • Kennerson, Marina;
    • Previtali, Stefano C.;
    • Zuchner, Stephan
    Publication type:
    Article
    10
    11

    De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

    Published in:
    Movement Disorders, 2022, v. 37, n. 6, p. 1175, doi. 10.1002/mds.28959
    By:
    • 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;
    • Brice, Alexis;
    • Durr, Alexandra;
    • Klebe, Stephan
    Publication type:
    Article
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    Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.

    Published in:
    Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00169-w
    By:
    • Dohrn, Maike F.;
    • Heller, Corina;
    • Zengeler, Diana;
    • Obermaier, Carolin D.;
    • Biskup, Saskia;
    • Weis, Joachim;
    • Nikolin, Stefan;
    • Claeys, Kristl G.;
    • Schöne, Ulrike;
    • Beijer, Danique;
    • Winter, Natalie;
    • Achenbach, Pascal;
    • Gess, Burkhard;
    • Schulz, Jörg B.;
    • Mulahasanovic, Lejla
    Publication type:
    Article
    15

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

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 1, p. 227, doi. 10.1093/brain/awae206
    By:
    • 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
    Publication type:
    Article
    16

    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4880, doi. 10.1093/brain/awad328
    By:
    • Lischka, Annette;
    • Eggermann, Katja;
    • Record, Christopher J;
    • Dohrn, Maike F;
    • Laššuthová, Petra;
    • Kraft, Florian;
    • Begemann, Matthias;
    • Dey, Daniela;
    • Eggermann, Thomas;
    • Beijer, Danique;
    • Šoukalová, Jana;
    • Laura, Matilde;
    • Rossor, Alexander M;
    • Mazanec, Radim;
    • Lent, Jonas Van;
    • Tomaselli, Pedro J;
    • Ungelenk, Martin;
    • Debus, Karlien Y;
    • Feely, Shawna M E;
    • Gläser, Dieter
    Publication type:
    Article
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