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Maria Lourdes Arbones

Research Profile

Disorders

Physiology

Mutation

Genes & Molecular Sequences

Amino Acid Sequences

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Mouse

Chemicals & Drugs

Anatomy

Procedures

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Publications

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Mónica Sobrado; Maria Lourdes Arbones; Ignacio Lizasoain; Takashi Minami; María Angeles Moro; Fernando Neria; Belén G Ramirez; Juan Miguel Redondo; Eva María Cano
Regulator of calcineurin 1 (Rcan1) has a protective role in brain ischemia/reperfusion injury.
Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Salvatore Melchionda; Nadav Ahituv; Luigi Bisceglia; Tama Sobe; Fabian Glaser; Raquel Rabionet; Maria Lourdes Arbones; A Notarangelo; Enzo Di Iorio; Massimo Carella; Leopoldo Zelante; Xavier Estivill; Karen B Avraham; Paolo Gasparini
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

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All Publications

2012: Mónica Sobrado; Maria Lourdes Arbones; Ignacio Lizasoain; Takashi Minami; María Angeles Moro; Fernando Neria; Belén G Ramirez; Juan Miguel Redondo; Eva María Cano
Regulator of calcineurin 1 (Rcan1) has a protective role in brain ischemia/reperfusion injury.
Journal of neuroinflammation 2012;9():48.
2002: Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002;80(2):124-31.
2001: Salvatore Melchionda; Nadav Ahituv; Luigi Bisceglia; Tama Sobe; Fabian Glaser; Raquel Rabionet; Maria Lourdes Arbones; A Notarangelo; Enzo Di Iorio; Massimo Carella; Leopoldo Zelante; Xavier Estivill; Karen B Avraham; Paolo Gasparini
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
American journal of human genetics 2001;69(3):635-40.
1999: A Grifa; C A Wagner; L D'Ambrosio; Salvatore Melchionda; F Bernardi; N Lopez-Bigas; Raquel Rabionet; Maria Lourdes Arbones; M D Monica; Xavier Estivill; Leopoldo Zelante; F Lang; Paolo Gasparini
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nature genetics 1999;23(1):16-8.