Virginia Nunes

Overview

Best Publications

• Cystinuria caused by mutations in rBAT , a gene involved in the transport of cystine

  María Julia Calonge;Paolo Gasparini;Josep Chillarón;Miguel Chillón

  430
  Citations

• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

  Lídia Feliubadaló;Mariona Font;Jesús Purroy;Ferran Rousaud

  377
  Citations

• Pathophysiology and treatment of cystinuria

  Josep Chillarón;Mariona Font-Llitjós;Joana Fort;Antonio Zorzano

  227
  Citations

• New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

  M. Font-Llitjós;M. Jiménez-Vidal;L. Bisceglia;M. Di Perna

  199
  Citations

• Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

  Tania López-Hernández;Margreet C. Ridder;Marisol Montolio;Xavier Capdevila-Nortes

  191
  Citations

• The genetics of heteromeric amino acid transporters.

  Manuel Palacín;Virginia Nunes;Mariona Font-Llitjós;Maite Jiménez-Vidal

  186
  Citations

• Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes

  J Bertran;A Werner;J Chillarón;V Nunes

  177
  Citations

• Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging.

  Antoni Barrientos;Jordi Casademont;Francesc Cardellach;Xavier Estivill

  173
  Citations

• Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

  Miguel López de Heredia;Ramón Clèries;Virginia Nunes

  162
  Citations

• GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.

  Elena Jeworutzki;Tania López-Hernández;Xavier Capdevila-Nortes;Sònia Sirisi

  155
  Citations

• Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

  Mariona Font;Lídia Feliubadaló;Xavier Estivill;Virginia Nunes

  152
  Citations

• A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

  Antoni Barrientos;Víctor Volpini;Jordi Casademont;David Genís

  135
  Citations

• CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

  Núria Morral;Virginia Nunes;Teresa Casals;Xavier Estivill

  123
  Citations

• Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers

  Núria Morral;Virginia Nunes;Teresa Casals;Miguel Chillón

  120
  Citations

• Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

  A. Barrientos;J. Casademont;A. Saiz;F. Cardellach

  116
  Citations

• Qualitative and Quantitative Changes in Skeletal Muscle mtDNA and Expression of Mitochondrial-Encoded Genes in the Human Aging Process

  Antoni Barrientos;Jordi Casademont;Francesc Cardellach;Esther Ardite

  116
  Citations

• Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

  Luigi Bisceglia;María Julia Calonge;Antonio Totaro;Lidia Feliubadaló

  112
  Citations

• High heterogeneity for cystic fibrosis in Spanish families : 75 mutations account for 90% of chromosomes

  Teresa Casals;Maria D. Ramos;Javier Giménez;Sara Larriba

  112
  Citations

• Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction

  Maja B. Hoegg-Beiler;Sònia Sirisi;Ian J. Orozco;Isidre Ferrer

  108
  Citations

• Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

  Tania López-Hernández;Sònia Sirisi;Xavier Capdevila-Nortes;Marisol Montolio

  103
  Citations