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1

STUB1 Mutations as Possible Genetic Modifiers in Spinocereb..:

Baviera‐Muñoz, Raquel ; Carretero‐Vilarroig, Lidón ; Pedro‐Ibor, Ana...
Movement Disorders. , 2024

Link: https://doi.org/10.1002/..

2

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary..:

Baviera‐Muñoz, Raquel ; Carretero‐Vilarroig, Lidón ; Muelas, Nuria...
Movement Disorders Clinical Practice. 10 (2023) 6 - p. 992-997 , 2023

Link: https://doi.org/10.1002/..

3

Axonemal Symmetry Break, a New Ultrastructural Diagnostic T..:

Blanco-Máñez, Rosana ; Armengot-Carceller, Miguel ; Jaijo, Teresa.
Diagnostics. 12 (2022) 1 - p. 129 , 2022

Link: https://doi.org/10.3390/..

4

Functional assays of non-canonical splice-site variants in ..:

Rodriguez-Muñoz, Ana ; Liquori, Alessandro ; García-Bohorquez, Belén...
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

5

Modeling a Novel Variant of Glycogenosis IXa Using a Clonal..:

Garcia-Llorens, Guillem ; Lopez-Navarro, Sergi ; Jaijo, Teresa..
Journal of Personalized Medicine. 12 (2022) 7 - p. 1111 , 2022

Link: https://doi.org/10.3390/..

6

Updating the Genetic Landscape of Inherited Retinal Dystrop..:

García Bohórquez, Belén ; Aller, Elena ; Rodríguez Muñoz, Ana...
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

Clinical and genetic characteristics of 21 Spanish patients..:

Baviera-Muñoz, Raquel ; Campins-Romeu, Marina ; Carretero-Vilarroig, Lidón...
Journal of the Neurological Sciences. 429 (2021) - p. 118062 , 2021

Link: https://doi.org/10.1016/..

8

Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dy..:

Campins‐Romeu, Marina ; Baviera‐Muñoz, Raquel ; Sastre‐Bataller, Isabel...
Movement Disorders Clinical Practice. 8 (2021) 6 - p. 966-968 , 2021

Link: https://doi.org/10.1002/..

9

Usher Syndrome: Genetics of a Human Ciliopathy:

Fuster-García, Carla ; García-Bohórquez, Belén ; Rodríguez-Muñoz, Ana...
International Journal of Molecular Sciences. 22 (2021) 13 - p. 6723 , 2021

Link: https://doi.org/10.3390/..

10

Epilepsy, status epilepticus, and hemiplegic migraine coexi..:

Gil-Perotín, Sara ; Jaijo, Teresa ; Verdú, Andrés G....
Neurological Sciences. 42 (2021) 9 - p. 3647-3654 , 2021

Link: https://doi.org/10.1007/..

11

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Pati..:

Bea-Mascato, Brais ; Solarat, Carlos ; Perea-Romero, Irene...
Genes. 12 (2021) 2 - p. 282 , 2021

Link: https://doi.org/10.3390/..

12

Presenilin-1 Mutations Are a Cause of Primary Lateral Scler..:

Vázquez-Costa, Juan Francisco ; Payá-Montes, María ; Martínez-Molina, Marina...
Frontiers in Molecular Neuroscience. 14 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

Genotype–phenotype correlation in patients with Usher syndr..:

Galbis‐Martínez, Lilián ; Blanco‐Kelly, Fiona ; García‐García, Gema...
Acta Ophthalmologica. 99 (2021) 8 - p. 922-930 , 2021

Link: https://doi.org/10.1111/..

14

Improving the Management of Patients with Hearing Loss by t..:

García-García, Gema ; Berzal-Serrano, Alba ; García-Díaz, Piedad...
Genes. 11 (2020) 12 - p. 1467 , 2020

Link: https://doi.org/10.3390/..

15

Expanding the Genetic Landscape of Usher-Like Phenotypes:

Fuster-García, Carla ; García-García, Gema ; Jaijo, Teresa...
Investigative Opthalmology & Visual Science. 60 (2019) 14 - p. 4701 , 2019

Link: https://doi.org/10.1167/..

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