D. Martínez-Rubio

发表

Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson’s disease

J. Hoenicka, M. Marti, M. Ezquerra, 2021, Scientific Reports.

Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

J. Millán, F. Pallardó, M. I. Galindo, 2020, Antioxidants.

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

C. Marco-Marín, C. Espinós, S. Aguilera-Albesa, 2023, International journal of molecular sciences.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

C. Marco-Marín, E. Muñoz, A. Duat‐Rodríguez, 2022, International journal of molecular sciences.

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3

C. Marco-Marín, B. Pérez-Dueñas, M. Soriano-Navarro, 2022, Human molecular genetics.

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

F. Gil-Ortiz, B. Pérez-Dueñas, C. Espinós, 2021, International journal of molecular sciences.

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism

F. Carrillo, S. Jesús, P. Mir, 2021, Neurology: Genetics.

Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

R. Rojas-García, R. Sivera, J. Díaz-Manera, 2020, European journal of neurology.

A Novel Delins Mutation in the α-TTP Gene in a Family Segregating Ataxia With Isolated Vitamin E Deficiency

C. Espinós, M. Fernández-Burriel, F. Palau, 2008, Pediatric Research.

Title page A novel delins mutation in the -TTP gene in a family segregating ataxia with isolated vitamin E deficiency Running title: A complex mutation in the -TTP gene

C. Espinós, M. Fernández-Burriel, F. Palau, 2011 .

Autosomal recessive Charcot-Marie-Tooth neuropathy.

C. Espinós, E. Calpena, D. Martínez-Rubio, 2012, Advances in experimental medicine and biology.

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

M. I. Galindo, C. Espinós, J. Vílchez, 2009, Human molecular genetics.

Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth

C. Paradas, T. Jaijo, J. Colomer, 2013, Clinical genetics.

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot‐Marie‐Tooth disease

R. Sivera, C. Espinós, F. Palau, 2010, Journal of the peripheral nervous system : JPNS.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

J. Dopazo, S. Pascual-Pascual, R. Sivera, 2016, Brain : a journal of neurology.

The Addiction-Related Gene ANKK1 in Parkinsonian Patients with Impulse Control Disorder

J. Hoenicka, F. Palau, G. Ponce, 2015, Neurotoxicity Research.

Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up

P. Navas, R. Artuch, M. Pineda, 2010, Movement disorders : official journal of the Movement Disorder Society.

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

A. Ormazabal, R. Artuch, M. Pineda, 2009, Journal of Medical Genetics.