Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marianne Kägi"'
Autor:
Nicolás Seleme, Patricia Orellana, Verónica Fernández, Jan Hauke, Christine Klein, Norbert Brüggemann, Alexander Schmidt, Teresa Parrao, Alfredo Ramirez, Detlef Kömpf, Pablo Venegas, Marianne Kägi, Christian Kubisch, Cristian Garrido, Pedro Chana, Johann Hagenah, Cecilia V. Rojas, Maria I. Behrens, Eric Hahnen, Rafael González, Ferdinand Binkofski
Publikováno v:
MOVEMENT DISORDERS
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
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 disease characterized by progressive Par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d7333e34ec4753e88209c38584049b
https://doi.org/10.1002/mds.22996
https://doi.org/10.1002/mds.22996
Autor:
Marcelo, Miranda, Larisa, Fabres, Marianne, Kägi, Ledda, Aguilera, Myriam, Alvo, Leticia, Elgueta, Sandra, Erazo, Pablo, Venegas
Publikováno v:
Revista medica de Chile. 131(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97c996a50f34d0f8b63194eeb6241244
https://pubmed.ncbi.nlm.nih.gov/12942600
https://pubmed.ncbi.nlm.nih.gov/12942600
Autor:
Sandra Erazo, Ledda Aguilera, Larisa Fabres, Leticia Elgueta, Marianne Kägi, Marcelo Miranda, Pablo Venegas, Myriam Alvo
Publikováno v:
Revista médica de Chile. 131
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc1c2f2e845db4d5ba6de0b088a00b0e
https://doi.org/10.4067/s0034-98872003000600017
https://doi.org/10.4067/s0034-98872003000600017