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  • Elena Miñones-Moyano, Sílvia Porta, +7 authors Eulàlia Martí
  • Medicine, Biology
  • Human molecular genetics
  • 2011 (First Publication: 1 August 2011)
  • MicroRNAs (miRNAs) are post-transcriptional gene expression regulators, playing key roles in neuronal development, plasticity and disease. Parkinson's disease (PD) is the second most commonContinue Reading
  • E Thönnissen, Raquel Rabionet, María Lourdes Arbonés, Xavier Estivill, Klaus Willecke, Thomas Ott
  • Medicine, Biology
  • Human Genetics
  • 2002 (First Publication: 1 August 2002)
  • Abstract. Mutations in the connexin26 (GJB2) gene account for about half of inherited non-syndromic deafness cases in Western countries. The connexin26 protein is a subunit of gap junctions that formContinue Reading
  • Salvatore Melchionda, Nadav Ahituv, +11 authors Paolo Gasparini
  • Medicine, Biology
  • American journal of human genetics
  • 2001 (First Publication: 1 September 2001)
  • Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located onContinue Reading
  • Frédérique Verdier, Raquel Rabionet, +7 authors Stany Chrétien
  • Biology, Medicine
  • Molecular and cellular biology
  • 1998 (First Publication: 1 October 1998)
  • Two distinct genes encode the closely related signal transducer and activator of transcription proteins STAT5A and STAT5B. The molecular mechanisms of gene regulation by STAT5 and, particularly, theContinue Reading
  • Tiago Krug, João Paulo Nicolini Gabriel, +17 authors Sofia Almeida Oliveira
  • Biology, Medicine
  • Journal of cerebral blood flow and metabolism…
  • 2012 (First Publication: 1 June 2012)
  • We hereby propose a novel approach to the identification of ischemic stroke (IS) susceptibility genes that involves converging data from several unbiased genetic and genomic tools. We tested theContinue Reading