<i> <scp>NKX2</scp> ‐1 </i> Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas

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DOI: 10.1002/mds.70432
Published: 2026-07-16
Container: Movement Disorders
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/mds.70432,
  title = {<i>
                      <scp>NKX2</scp>
                      ‐1
                    </i>
                    Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea},
  author = {Robin Wijngaard and Lucy Dougherty‐de Miguel and German Demidov and Galuh Astuti and Amaia Lasa‐Aranzasti and Ana Cueto‐González and Marta Correa‐Vela and Carlos Lázaro‐Hernández and Charlotte A. Haaxma and Clara D.M. van Karnebeek and David Gómez‐Andrés and Ignacio Iglesias‐Serrano and Jiddeke M. van de Kamp and Jolanda Schieving and Laura Trujillano and Marc Engelen and Beatriz Muñoz‐Cabello and Roderick P.P.W.M. Maas and Thatjana Gardeitchik and Victoria Gonzalez and Annemarie de Vreugd and Cristina Pérez‐Sanchez and Elisabet Lloveras and Erik‐Jan Kamsteeg and Maartje Pennings and Natalia Rey‐Viñets and Javier Sánchez and Ronald van Beek and Antonio Moreno‐Galdó and Lisenka E.L.M. Vissers and Kornelia Neveling and Anna Marcé‐Grau and Machteld M. Oud and Belén Pérez‐Dueñas},
  year = {2026},
  journal = {Movement Disorders},
  doi = {10.1002/mds.70432},
  url = {https://doi.org/10.1002/mds.70432}
}

RIS

TY  - JOUR
TI  - <i>
                      <scp>NKX2</scp>
                      ‐1
                    </i>
                    Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea
AU  - Robin Wijngaard
AU  - Lucy Dougherty‐de Miguel
AU  - German Demidov
AU  - Galuh Astuti
AU  - Amaia Lasa‐Aranzasti
AU  - Ana Cueto‐González
AU  - Marta Correa‐Vela
AU  - Carlos Lázaro‐Hernández
AU  - Charlotte A. Haaxma
AU  - Clara D.M. van Karnebeek
AU  - David Gómez‐Andrés
AU  - Ignacio Iglesias‐Serrano
AU  - Jiddeke M. van de Kamp
AU  - Jolanda Schieving
AU  - Laura Trujillano
AU  - Marc Engelen
AU  - Beatriz Muñoz‐Cabello
AU  - Roderick P.P.W.M. Maas
AU  - Thatjana Gardeitchik
AU  - Victoria Gonzalez
AU  - Annemarie de Vreugd
AU  - Cristina Pérez‐Sanchez
AU  - Elisabet Lloveras
AU  - Erik‐Jan Kamsteeg
AU  - Maartje Pennings
AU  - Natalia Rey‐Viñets
AU  - Javier Sánchez
AU  - Ronald van Beek
AU  - Antonio Moreno‐Galdó
AU  - Lisenka E.L.M. Vissers
AU  - Kornelia Neveling
AU  - Anna Marcé‐Grau
AU  - Machteld M. Oud
AU  - Belén Pérez‐Dueñas
PY  - 2026
JO  - Movement Disorders
DO  - 10.1002/mds.70432
UR  - https://doi.org/10.1002/mds.70432
ER  -

APA

Wijngaard, R., Miguel, L. D., Demidov, G., Astuti, G., Lasa‐Aranzasti, A., Cueto‐González, A., Correa‐Vela, M., Lázaro‐Hernández, C., Haaxma, C. A., Karnebeek, C. D. V., Gómez‐Andrés, D., Iglesias‐Serrano, I., Kamp, J. M. V. D., Schieving, J., Trujillano, L., Engelen, M., Muñoz‐Cabello, B., Maas, R. P., Gardeitchik, T., Gonzalez, V., Vreugd, A. D., Pérez‐Sanchez, C., Lloveras, E., Kamsteeg, E., Pennings, M., Rey‐Viñets, N., Sánchez, J., Beek, R. V., Moreno‐Galdó, A., Vissers, L. E., Neveling, K., Marcé‐Grau, A., Oud, M. M., & Pérez‐Dueñas, B. (2026). <i> <scp>NKX2</scp> ‐1 </i> Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea. Movement Disorders. https://doi.org/10.1002/mds.70432

Source records

crossref · retrieved 2026-09-26T17:40:06.079Z