Dolores Rubio-Martinez
Valencia, VC 46012, Spain
Last Updated: 09/26/2026
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Found 18 publications
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Journal: International journal of molecular sciences
Published: September 14, 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Journal: International journal of molecular sciences
Published: September 05, 2022
Author Correction: Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.
Journal: Scientific reports
Published: July 26, 2022
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
Journal: Human molecular genetics
Published: April 04, 2022
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Journal: International journal of molecular sciences
Published: January 29, 2021
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Journal: European journal of neurology
Published: October 02, 2020
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
Journal: Antioxidants (Basel, Switzerland)
Published: March 16, 2020
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Journal: Brain : a journal of neurology
Published: May 25, 2015
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Journal: European journal of neurology
Published: March 27, 2015
The addiction-related gene ANKK1 in Parkinsonian patients with impulse control disorder.
Journal: Neurotoxicity research
Published: September 10, 2014
Last Updated: 09/26/2026