16q12.2q21 deletion:: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

A Lasa-Aranzasti; A Cazurro-Gutiérrez; A Bescós; V González; L Ispierto; M Tardáguila; I Valenzuela; A Plaja; A Moreno-Galdó; A Macaya-Ruiz; B Pérez-Dueñas

doi:10.1016/j.parkreldis.2022.08.032

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

A Lasa-Aranzasti, A Cazurro-Gutiérrez, A Bescós, V González, L Ispierto, M Tardáguila, I Valenzuela, A Plaja, A Moreno-Galdó, A Macaya-Ruiz, B Pérez-Dueñas

Research output: Contribution to journal › Article › Research › peer-review

6 Citations (Scopus)

Original language	English
Pages (from-to)	112-114
Number of pages	3
Journal	Parkinsonism & related disorders
Volume	103
DOIs	https://doi.org/10.1016/j.parkreldis.2022.08.032
Publication status	Published - Oct 2022

Keywords

Dystonia
Children
GNAO1
Deep brain stimulation
GPi
Pallidal stimulation

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10.1016/j.parkreldis.2022.08.032Licence: C In Copyright

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Lasa-Aranzasti, A., Cazurro-Gutiérrez, A., Bescós, A., González, V., Ispierto, L., Tardáguila, M., Valenzuela, I., Plaja, A., Moreno-Galdó, A., Macaya-Ruiz, A., & Pérez-Dueñas, B. (2022). 16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency. Parkinsonism & related disorders, 103, 112-114. https://doi.org/10.1016/j.parkreldis.2022.08.032

@article{b2ea967bf80b4c10927024cc188e07ed,

title = "16q12.2q21 deletion:: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.",

keywords = "Dystonia, Children, GNAO1, Deep brain stimulation, GPi, Pallidal stimulation",

author = "A Lasa-Aranzasti and A Cazurro-Guti{\'e}rrez and A Besc{\'o}s and V Gonz{\'a}lez and L Ispierto and M Tard{\'a}guila and I Valenzuela and A Plaja and A Moreno-Gald{\'o} and A Macaya-Ruiz and B P{\'e}rez-Due{\~n}as",

year = "2022",

month = oct,

doi = "10.1016/j.parkreldis.2022.08.032",

language = "English",

volume = "103",

pages = "112--114",

journal = "Parkinsonism \& related disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

}

Lasa-Aranzasti, A, Cazurro-Gutiérrez, A, Bescós, A, González, V, Ispierto, L, Tardáguila, M, Valenzuela, I, Plaja, A, Moreno-Galdó, A , Macaya-Ruiz, A & Pérez-Dueñas, B 2022, '16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.', Parkinsonism & related disorders, vol. 103, pp. 112-114. https://doi.org/10.1016/j.parkreldis.2022.08.032

TY - JOUR

T1 - 16q12.2q21 deletion:

T2 - A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

AU - Lasa-Aranzasti, A

AU - Cazurro-Gutiérrez, A

AU - Bescós, A

AU - González, V

AU - Ispierto, L

AU - Tardáguila, M

AU - Valenzuela, I

AU - Plaja, A

AU - Moreno-Galdó, A

AU - Macaya-Ruiz, A

AU - Pérez-Dueñas, B

PY - 2022/10

Y1 - 2022/10

KW - Dystonia

KW - Children

KW - GNAO1

KW - Deep brain stimulation

KW - GPi

KW - Pallidal stimulation

UR - http://europepmc.org/abstract/med/36096018

UR - https://www.scopus.com/pages/publications/85137605880

U2 - 10.1016/j.parkreldis.2022.08.032

DO - 10.1016/j.parkreldis.2022.08.032

M3 - Article

C2 - 36096018

SN - 1353-8020

VL - 103

SP - 112

EP - 114

JO - Parkinsonism & related disorders

JF - Parkinsonism & related disorders

ER -

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

Keywords

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