Publikationen, an denen er mitarbeitet JAVIER RUIZ MARTÍNEZ (5)

2023

  1. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

2018

  1. LACONORTE study: Efficacy and security of lacosamide as first add-on therapy for focal-onset epilepsy in real-life setting

    Epilepsy Research, Vol. 145, pp. 51-54

2013

  1. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406

2011

  1. Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

    Movement Disorders, Vol. 26, Núm. 11, pp. 2026-2031

2008

  1. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

    Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952