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Browsing by Author "Millán, José M."

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Browsing by Author "Millán, José M."

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    Ancient origin of the CAG expansion causing Huntingtons disease in a Spanish population. 
    García-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar Peiro, Damián; Palau, Francesc; Espinós-Armero, Carmen Ángeles (John Wiley & Sons, 2005-05)
    [EN] Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal ...
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    The USH2A c.2299delG mutation: dating its common origin in a Southern European population. 
    Aller, Elena; Larrieu, Lise; Jaijo, Teresa; David Baux; Espinós-Armero, Carmen Ángeles; González-Candelas, Fernando; Nájera, Carmen; Palau, Francesc; Claustres, Mireille; Roux, Anne Françoise; Millán, José M. (Nature Publishing Group, 2010-07)
    [EN] Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of ...
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    USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses 
    Adato, Avital; Vreugde, Sarah; Joensuu, Tarja; Avidan, Nili; Hamalainen, Riikka; Belenkiy, Olga; Olender, Tsviya; Bonne-Tamir, Batsheva; Ben-Asher, Edna; Espinós-Armero, Carmen Ángeles; Millán, José M.; Lehesjoki, Anna-Elina; Flannery, John G.; Avraham, Karen B.; Pietrokovski, Shmuel; Sankila, Eeva-Marja; Beckmann, Jacques S.; Lancet, Doron (Nature Publishing Group, 2002-06)
    [EN] Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of ...