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Journal of Neurovirology|December 22, 2019
Cryptococcal meningoencephalitis presenting as cerebral venous thrombosisJon Equiza, Gorka Fernandez-Eulate, Jon Rodriguez-Antigüedad, et al.European Journal of Human Genetics : EJHG|June 19, 2023
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencingJulian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, et al.Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.Pageof 1