An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

by Haitham Maarouf, María Taboada, Hadriana Rodriguez, Manuel Arias, Ángel Sesar, María Jesús Sobrido
Published 2017-12-01

Zebrafish Models of Autosomal Dominant Ataxias

by Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez
Published 2021-02-01

Zebrafish Models of Autosomal Recessive Ataxias

by Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez
Published 2021-04-01

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

by María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Published 2019-01-01

Prevalence of Essential Tremor on Arosa Island, Spain: a Community-based, Door-to-Door Survey

by Manuel Seijo-Martinez, Maria Castro del Rio, Jose Ramon Rodriguez Alvarez, Ramon Suarez-Prado, Eugenio Torres Salgado, Javier Paz Esquete, Maria Jesus Sobrido-Gomez
Published 2013-09-01

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

by Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen-West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes-Casey, Aishe Kurti, Judith H. Dunmore, John D. Fryer, Yong-Jie Zhang, Beatriz San Millan, Susana Teijeira Bautista, Manuel Arias, Dennis Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli
Published 2020-05-01