Showing 1 - 9 results of 9 for search 'María-Jesús Sobrido', query time: 0.04s Refine Results
  1. 1
    An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

    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
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  2. 2
    Zebrafish Models of Autosomal Dominant Ataxias

    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
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  3. 3
    Zebrafish Models of Autosomal Recessive Ataxias

    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
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  4. 4
    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

    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
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  5. 5
    A <i>nop56</i> Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

    A <i>nop56</i> Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype by Ana Quelle-Regaldie, Mónica Folgueira, Julián Yáñez, Daniel Sobrido-Cameán, Anabel Alba-González, Antón Barreiro-Iglesias, María-Jesús Sobrido, Laura Sánchez

    Published 2022-07-01
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  6. 6
    Prevalence of Essential Tremor on Arosa Island, Spain: a Community-based, Door-to-Door Survey

    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
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  7. 7
    Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation

    Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation by Ana Quelle-Regaldie, Nerea Gandoy-Fieiras, Paula Rodríguez-Villamayor, Paula Rodríguez-Villamayor, Sandra Maceiras, Ana Paula Losada, Mónica Folgueira, Pablo Cabezas-Sáinz, Antón Barreiro-Iglesias, María Villar-López, María Isabel Quiroga-Berdeal, Laura Sánchez, María Jesús Sobrido

    Published 2023-03-01
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  8. 8
    Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

    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
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  9. 9
    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization by Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol

    Published 2023-09-01
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