Juan Dario O. Ortigoza Escobar
AuthID: R-00H-CKG
1
TITLE: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
INDEXED IN: Scopus WOS
2
TITLE: Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study Full Text
AUTHORS: Alejandra Darling; Cristina Tello; Maria J Josep Marti; Cristina Garrido; Sergio Aguilera Albesa; Miguel T Tomas Vila; Itziar Gaston; Marcos Madruga; Luis G Gonzalez Gutierrez; Julio R Ramos Lizana; Montserrat Pujol; Tania G Gavilan Iglesias; Kylee Tustin; Jean Pierre Lin; Giovanna Zorzi; Nardo Nardocci; Loreto Martorell; Gustavo L Lorenzo Sanz; Fuencisla Gutierrez; Pedro J Garcia; ...More
PUBLISHED: 2017, SOURCE: MOVEMENT DISORDERS, VOLUME: 32, ISSUE: 11
AUTHORS: Alejandra Darling; Cristina Tello; Maria J Josep Marti; Cristina Garrido; Sergio Aguilera Albesa; Miguel T Tomas Vila; Itziar Gaston; Marcos Madruga; Luis G Gonzalez Gutierrez; Julio R Ramos Lizana; Montserrat Pujol; Tania G Gavilan Iglesias; Kylee Tustin; Jean Pierre Lin; Giovanna Zorzi; Nardo Nardocci; Loreto Martorell; Gustavo L Lorenzo Sanz; Fuencisla Gutierrez; Pedro J Garcia; ...More
PUBLISHED: 2017, SOURCE: MOVEMENT DISORDERS, VOLUME: 32, ISSUE: 11
INDEXED IN: Scopus WOS