Publications by authors named "Ainhoa Garcia-Ribes"

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Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
Olatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, María Unceta, Javier De Las Heras, Ainhoa Garcia-Ribes

Mitochondrion· January 2026

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Real-world use of cenobamate in pediatric focal epilepsies and developmental epileptic encephalopathies: A multicenter retrospective series.
Víctor Soto-Insuga, Adrián Valls Carbó, Anna Gretel Pinzón-Acevedo, Elena González-Alguacil, Juan José García Peñas

Epilepsia· July 2025

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Facial Hypomimia, Oculomotor Paralysis, and Ataxia Associated With GAD65 and Glycine Receptor Antibodies in a Child.
Zuriñe Ortiz de Zarate Caballero, Amagoia Elosegi Castellanos, Ainhoa García Ribes, María Jesús Martínez-González, Ana Felipe-Rucián

Neurology· December 2024

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz

Int J Mol Sci· October 2022

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Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype.
Idoia Rouco Axpe, Elisa Blanco Martín, Ainhoa Garcia Ribes, Rosa Bermejo-Ramirez, Diego Arroyo Andújar

J Neurol Sci· September 2017

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MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Hiart Maortua, Cristina Martínez-Bouzas, Ainhoa García-Ribes, María-Jesus Martínez, Encarna Guillen

J Mol Diagn· September 2013

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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos

BMC Med Genet· August 2012

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A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.
María-Isabel Tejada, Cristina Martínez-Bouzas, Ainhoa García-Ribes, Susana Larrucea, Francesco Acquadro

Pediatrics· October 2011

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Suspected herpes encephalitis and opercular syndrome in childhood.
Ainhoa García-Ribes, María Jesús Martínez-González, Jose María Prats-Viñas

Pediatr Neurol· March 2007

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Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?
Jose Maria Prats Viñas, María Jesús Martinez Gonzalez, Ainhoa Garcia Ribes, Sonia Martinez Gonzalez, Ricardo Martinez Fernandez

Dev Med Child Neurol· June 2005

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