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Medecine Sciences : M/S|December 8, 2021
[SORD-related hereditary neuropathies]Gorka Fernández-Eulate, Arnaud Bruneel, Tanya Stojkovic
BMJ Case Reports|November 22, 2019
Vemurafenib as first-line therapy in BRAF-V600E-mutant Erdheim-Chester disease with CNS involvementGorka Fernández-Eulate, Amaia Muñoz-Lopetegi, Irune Ruiz, et al.
Medecine Sciences : M/S|January 11, 2021
[Sarcoglycanopathies: state of the art and therapeutic perspectives]Gorka Fernández-Eulate, France Leturcq, Pascal Laforêt, et al.
Stem Cell Research|August 17, 2025
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)Gorka Fernández-Eulate, Céline Banal, Solène Renault, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Diagnostic approach in adult-onset neurometabolic diseasesGorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, et al.
Journal of Neurology|September 26, 2022
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?Gorka Fernández-Eulate, Rabab Debs, Thierry Maisonobe, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|January 15, 2018
Internal Carotid Artery Web as the Cause of Recurrent Cryptogenic Ischemic StrokeJon Antigüedad-Muñoz, Patricia de la Riva, Gorka Arenaza Choperena, et al.
Orphanet Journal of Rare Diseases|December 13, 2022
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataractsGorka Fernández-Eulate, Gilles C Martin, Pascal Dureau, et al.
Annals of Clinical and Translational Neurology|December 20, 2019
A deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesEdgard Verdura, Agatha Schlüter, Gorka Fernández-Eulate, et al.
Molecular Genetics and Metabolism|January 29, 2023
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-GangliosidosisAmélie Blondel, Ichraf Kraoua, Chloé Marcelino, et al.
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