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List of works by Dolores Martínez-Rubio

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

scientific article published on 6 July 2012

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

scientific article published on 9 May 2014

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

scientific article published on 15 May 2019

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutations

scientific article published on 10 November 2018

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

scientific article published on 01 December 2011

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

scientific article

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

scientific article published on 24 October 2015

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

scientific article

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

scientific article published on 24 July 2015

The addiction-related gene ANKK1 in Parkinsonian patients with impulse control disorder.

scientific article published on 2 December 2014

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