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Ortigoza‐Escobar, Juan Darío
116
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Format
Online (116)
Mediatypes
Articles (Online) (55)
Bookchapter (Online) (1)
OpenAccess-fulltext (60)
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english (86)
spanish (1)
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1
Clinical and Molecular Profiling in GNAO1 Permits Phenotype..:
Lasa‐Aranzasti, Amaia
;
Larasati, Yonika A.
;
da Silva Cardoso, Juliana
...
Movement Disorders. , 2024
Link:
https://doi.org/10.1002/..
?
2
Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis a..:
Nou‐Fontanet, Laia
;
Martí‐Sánchez, Laura
;
Martorell, Loreto
..
Movement Disorders Clinical Practice. 11 (2024) 7 - p. 889-893 , 2024
Link:
https://doi.org/10.1002/..
?
3
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition w..:
Ortigoza‐Escobar, Juan Darío
;
Zamani, Mina
;
Dorison, Nathalie
...
Movement Disorders. , 2024
Link:
https://doi.org/10.1002/..
?
4
Emergence of lingual dystonia and strabismus in early‐onset..:
Ancora, Caterina
;
Ortigoza‐Escobar, Juan Dario
;
Valletti, Margherita Aluffi
...
Epileptic Disorders. 26 (2024) 2 - p. 219-224 , 2024
Link:
https://doi.org/10.1002/..
?
5
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:
Kaiyrzhanov, Rauan
;
Ortigoza‐Escobar, Juan Darío
;
Stringer, Brett W.
...
Movement Disorders. 39 (2024) 6 - p. 983-995 , 2024
Link:
https://doi.org/10.1002/..
?
6
Coexistence of junctional epidermolysis bullosa, autosomal ..:
Amato, Maria Eugenia
;
Ricart, Silvia
;
Vicente, Maria Asunción
...
Clinical Case Reports. 11 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1002/..
?
7
Chromosome Microarray Analysis for the Investigation of Del..:
Soliani, Luca
;
Alcalá San Martín, Adrián
;
Balsells, Sol
..
Movement Disorders Clinical Practice. 10 (2023) 4 - p. 547-557 , 2023
Link:
https://doi.org/10.1002/..
?
8
Severity of GNAO1‐Related Disorder Correlates with Changes ..:
Domínguez‐Carral, Jana
;
Ludlam, William Grant
;
Junyent Segarra, Mar
...
Annals of Neurology. 94 (2023) 5 - p. 987-1004 , 2023
Link:
https://doi.org/10.1002/..
?
9
Action Induced Myoclonus in a 11‐Year‐Old Boy with Silver‐R..:
Nou‐Fontanet, Laia
;
García‐Navas, Deyanira
;
Gómez‐Martín, Hilario
..
Movement Disorders Clinical Practice. 10 (2023) 6 - p. 1013-1015 , 2023
Link:
https://doi.org/10.1002/..
?
10
Exploring the Spectrum of RHOBTB2 Variants Associated with ..:
de Pedro Baena, Sonia
;
Sariego Jamardo, Andrea
;
Castro, Pedro
...
Movement Disorders Clinical Practice. 10 (2023) 11 - p. 1671-1679 , 2023
Link:
https://doi.org/10.1002/..
?
11
Early Onset Nonprogressive Generalized Dystonia Is Caused b..:
Revert Barberà, Anna
;
Fernández Isern, Guerau
;
Ortigoza‐Escobar, Juan Darío
Movement Disorders. 38 (2023) 6 - p. 1118-1119 , 2023
Link:
https://doi.org/10.1002/..
?
12
A Novel AIFM1‐Related Disorder Phenotype Treated with Deep ..:
Pijuan, Jordi
;
Sevrioukova, Irina F.
;
García‐Campos, Óscar
...
Movement Disorders. 39 (2023) 1 - p. 215-217 , 2023
Link:
https://doi.org/10.1002/..
?
13
Systematic review of drug therapy for chorea in NXK2‐1‐rela..:
Nou‐Fontanet, Laia
;
Martín‐Gómez, Carmen
;
Isabel‐Gómez, Rebeca
...
European Journal of Neurology. 30 (2023) 12 - p. 3928-3948 , 2023
Link:
https://doi.org/10.1111/..
?
14
The diagnosis of the first‐documented intragenic KANSL1 mic..:
Martorell, Loreto
;
Yubero, Delia
;
Capdevila, Esther Cuatrecasas
...
Clinical Genetics. 101 (2022) 5-6 - p. 575-576 , 2022
Link:
https://doi.org/10.1111/..
?
15
De novo 4q35.2 duplication containingFAT1is associated with..:
Hernando‐Davalillo, Cristina
;
Martín, Adrián Alcalá San
;
Borregan Prats, Mar
.
Clinical Genetics. 102 (2022) 5 - p. 434-437 , 2022
Link:
https://doi.org/10.1111/..
1-15