Showing 1 - 5 results of 5 for search 'Carlos Ortez', query time: 0.01s Refine Results
  1. 1
    P281: JOURNEY: A natural history study of limb-girdle muscular dystrophies R3–R5, baseline characteristics of study cohort

    P281: JOURNEY: A natural history study of limb-girdle muscular dystrophies R3–R5, baseline characteristics of study cohort by Linda P. Lowes, Carlos Ortez Gonzalez, Kristl Claeys, Chamindra Laverty, Andrea Gangfuss, Crystal Proud, Jordi Diaz Manera, Meredith James, Lindsay Alfano, Herb Stevenson, Lixi Yu, André Mueller-York, Giacomo Comi

    Published 2025-01-01
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  2. 2
    Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.

    Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. by Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera

    Published 2013-01-01
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  3. 3
    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum by Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito

    Published 2025-08-01
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  4. 4
    OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

    OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect by Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor

    Published 2018-09-01
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  5. 5
    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases by Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda

    Published 2025-07-01
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