Works by Martínez-Rubio, Dolores

Results: 13

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

Published in:

Neurotoxicity Research, 2015, v. 27, n. 3, p. 205, doi. 10.1007/s12640-014-9504-x

By:

Hoenicka, Janet;
García-Ruiz, Pedro;
Ponce, Guillermo;
Herranz, Antonio;
Martínez-Rubio, Dolores;
Pérez-Santamarina, Estela;
Palau, Francesc

Publication type:

Article

Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 347, doi. 10.1111/j.1529-8027.2011.00369.x

By:

Sevilla, Teresa;
Lupo, Vincenzo;
Sivera, Rafael;
Marco-Marín, Clara;
Martínez-Rubio, Dolores;
Rivas, Eloy;
Hernández, Arturo;
Palau, Francesc;
Espinós, Carmen

Publication type:

Article

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

Published in:

Journal of the Peripheral Nervous System, 2010, v. 15, n. 4, p. 334, doi. 10.1111/j.1529-8027.2010.00286.x

By:

Sivera, Rafael;
Espinós, Carmen;
Vílchez, Juan J.;
Mas, Fernando;
Martínez-Rubio, Dolores;
Chumillas, María José;
Mayordomo, Fernando;
Muelas, Nuria;
Bataller, Luis;
Palau, Francesc;
Sevilla, Teresa

Publication type:

Article

Author Correction: Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

Published in:

2022

By:

Pérez‑Santamarina, Estela;
García‑Ruiz, Pedro;
Martínez‑Rubio, Dolores;
Ezquerra, Mario;
Pla‑Navarro, Irene;
Puente, Jorge;
Martí, María José;
Palau, Francesc;
Hoenicka, Janet

Publication type:

Correction Notice

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16400, doi. 10.3390/ijms242216400

By:

Martínez-Rubio, Dolores;
Hinarejos, Isabel;
Argente-Escrig, Herminia;
Marco-Marín, Clara;
Lozano, María Ana;
Gorría-Redondo, Nerea;
Lupo, Vincenzo;
Martí-Carrera, Itxaso;
Miranda, Concepción;
Vázquez-López, María;
García-Pérez, Asunción;
Marco-Hernández, Ana Victoria;
Tomás-Vila, Miguel;
Aguilera-Albesa, Sergio;
Espinós, Carmen

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11847, doi. 10.3390/ijms231911847

By:

Martínez-Rubio, Dolores;
Hinarejos, Isabel;
Sancho, Paula;
Gorría-Redondo, Nerea;
Bernadó-Fonz, Raquel;
Tello, Cristina;
Marco-Marín, Clara;
Martí-Carrera, Itxaso;
Martínez-González, María Jesús;
García-Ribes, Ainhoa;
Baviera-Muñoz, Raquel;
Sastre-Bataller, Isabel;
Martínez-Torres, Irene;
Duat-Rodríguez, Anna;
Janeiro, Patrícia;
Moreno, Esther;
Pías-Peleteiro, Leticia;
Gordo, Mar O'Callaghan;
Ruiz-Gómez, Ángeles;
Muñoz, Esteban

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2505, doi. 10.3390/ijms22052505

By:

Sancho, Paula;
Andrés-Bordería, Amparo;
Gorría-Redondo, Nerea;
Llano, Katia;
Martínez-Rubio, Dolores;
Yoldi-Petri, María Eugenia;
Blumkin, Luba;
Rodríguez de la Fuente, Pablo;
Gil-Ortiz, Fernando;
Fernández-Murga, Leonor;
Sánchez-Monteagudo, Ana;
Lupo, Vincenzo;
Pérez-Dueñas, Belén;
Espinós, Carmen;
Aguilera-Albesa, Sergio;
Lazzarino, Giuseppe

Publication type:

Article

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

Published in:

European Journal of Neurology, 2021, v. 28, n. 4, p. 1334, doi. 10.1111/ene.14700

By:

Frasquet, Marina;
Rojas‐García, Ricard;
Argente‐Escrig, Herminia;
Vázquez‐Costa, Juan Francisco;
Muelas, Nuria;
Vílchez, Juan Jesús;
Sivera, Rafael;
Millet, Elvira;
Barreiro, Marisa;
Díaz‐Manera, Jordi;
Turon‐Sans, Janina;
Cortés‐Vicente, Elena;
Querol, Luis;
Ramírez‐Jiménez, Laura;
Martínez‐Rubio, Dolores;
Sánchez‐Monteagudo, Ana;
Espinós, Carmen;
Sevilla, Teresa;
Lupo, Vincenzo

Publication type:

Article

Novel human pathological mutations.

Published in:

2009

By:

Martínez-Rubio, Dolores;
Millán, José;
Palau, Francesc;
Espinós, Carmen

Publication type:

Correction Notice

Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration.

Published in:

Antioxidants, 2020, v. 9, n. 4, p. 313, doi. 10.3390/antiox9040313

By:

Espinós, Carmen;
Galindo, Máximo Ibo;
García-Gimeno, María Adelaida;
Ibáñez-Cabellos, José Santiago;
Martínez-Rubio, Dolores;
Millán, José María;
Rodrigo, Regina;
Sanz, Pascual;
Seco-Cervera, Marta;
Sevilla, Teresa;
Tapia, Andrea;
Pallardó, Federico V.

Publication type:

Article

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

Published in:

2016

By:

Sevilla, Teresa;
Lupo, Vincenzo;
Martínez-Rubio, Dolores;
Sancho, Paula;
Sivera, Rafael;
Chumillas, María J.;
García-Romero, Mar;
Pascual-Pascual, Samuel I.;
Muelas, Nuria;
Dopazo, Joaquín;
Vílchez, Juan J.;
Palau, Francesc;
Espinós, Carmen

Publication type:

journal article

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

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89300-6

By:

Pérez-Santamarina, Estela;
García-Ruiz, Pedro;
Martínez-Rubio, Dolores;
Ezquerra, Mario;
Pla-Navarro, Irene;
Puente, Jorge;
Martí, María José;
Palau, Francesc;
Hoenicka, Janet

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4603, doi. 10.1093/hmg/ddp427

By:

Lupo, Vincenzo;
Galindo, Máximo I.;
Martínez-Rubio, Dolores;
Sevilla, Teresa;
Vílchez, Juan J.;
Palau, Francesc;
Espinós, Carmen

Publication type:

Article