Browsing by Author "d212a52c-1b2a-48d9-9faf-c0aa9450db54"

Now showing items 1-2 of 2

    • Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations 
      Behrens Pellegrino, María Isabel; Brüggemann, Norbert; Chana, Pedro; Venegas Francke, Pablo; Kägi, Marianne; Parrao, Teresa; Orellana, Patricia; Garrido, Cristián; Rojas, Cecilia V.; Hauke, Jan; Hahnen, Eric; González Victoriano, Rafael; Seleme Herrero, Eduardo; Fernández, Verónica; Schmidt, Alexander; Binkofski, Ferdinand; Kömpf, Detlef; Kubisch, Christian; Hagenah, Johann; Klein, Christine; Ramírez, Alfredo (2010)
      Abstract: We report the clinical features of the original Chilean family with Kufor-Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile-onset autosomal recessive ...
    • Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy 
      Romero, Pablo; Fernández, Verónica; Slabaugh, Mark; Seleme, Nicolás; Reyes, Nury; Gallardo, Patricia; Herrera, Luisa; Peña, Luis; Pezo, Patricio; Moraga, Mauricio (2014)
      Purpose: The clinical impact of mDNA mutations on the development of Leber hereditary optic neuropathy (LHON) may be modulated by mitochondrial haplogroups, which vary across populations. The aim of this research was to ...