Dolores Martínez‐Rubio

Author

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

D Martínez-Rubio, D Martínez‐Rubio, D. Martínez-Rubio, D. Martínez‐Rubio, Dolores Martinez‐Rubio, Dolores Martínez-Rubio, Dolores Martínez‐Rubio, Dolores Martínez‑Rubio, Maria Dolores Martínez-Rubio, María Dolores Martínez-Rubio

Publications

823

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Centro de Investigación Biomédica en Red Hospital Universitari i Politècnic La Fe Centro de Investigacion Principe Felipe Instituto de Biomedicina de Valencia

About

Dolores Martínez‐Rubio is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	314
2	Social Sciences	2	2	36
3	Health Sciences	1	1	58
4	Natural Sciences	1	1	59
5	Biology	1	1	45

Dolores Martínez‐Rubio

Publications

712

Citations

H-Index

Page 1

	Year	Citations
Charcot-Marie-Tooth disease Rafael Sivera, Teresa Sevilla, Juan J. Vílchez, Neurology	2013	128
Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio, Brain Rare DiseasesMorc2 P.s25l MutationMendelian DisorderGenetic DisorderCharcot-marie-tooth Disease	2015	98
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation Marina Frasquet, Ricard Rojas‐García, Herminia Argente‐Escrig, European Journal of Neurology	2020	67
Phenotypical features of the p.R120W mutation in the <i>GDAP1</i> gene causing autosomal dominant Charcot‐Marie‐Tooth disease Rafael Sivera, Carmen Espinós, Juan J. Vílchez, Journal of the Peripheral Nervous System	2010	63
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway Vincenzo Lupo, Máximo Ibo Galindo, Dolores Martínez‐Rubio, Human Molecular Genetics GeneticsMolecular BiologyCytoskeletonCellular PhysiologyCmt4c Disease	2009	59
Coenzyme Q<sub>10</sub>‐responsive ataxia: 2‐year‐treatment follow‐up Mercè Pineda, Raquel Montero, Asunción Aracil, Movement Disorders Clinical DisordersTranslational Medicine-Responsive AtaxiaNeuromusculoskeletal DisorderClinical Injury	2010	58
Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth Teresa Sevilla, Dolores Martínez‐Rubio, Carmen Paradas, Clinical Genetics Hereditary MotorGeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene Identification	2012	45
The <i>EGR2</i> gene is involved in axonal Charcot−Marie−Tooth disease Teresa Sevilla, Rafael Sivera, Dolores Martínez‐Rubio, European Journal of Neurology	2015	33
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying <i>MME</i> mutations Vincenzo Lupo, Marina Frasquet, Ana Sánchez‐Monteagudo, Journal of Medical Genetics	2018	24
<i>NR4A2</i> Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Neurology Genetics Nr4a2/nurr1 GeneNeurological DisorderGeneticsSocial SciencesNeurobiology Of Disease	2021	20

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