Author: "Domínguez-González, Cristina" / Journal: neuromuscular disorders - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Domínguez-González, Cristina"' showing total 5 results

Start Over Author "Domínguez-González, Cristina" Journal neuromuscular disorders

5 results on '"Domínguez-González, Cristina"'

1. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

Author: Bermejo-Guerrero, Laura, de Fuenmayor Fernández-de la Hoz, Carlos Pablo, González-Quereda, Lidia, Segarra-Casas, Alba, Nedkova, Velina, Gallano, Pia, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Arteche-López, Ana, and Domínguez-González, Cristina
Published: 2023
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2. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

Author: Domínguez-González, Cristina, Hernández-Voth, Ana, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero, Laura Bermejo, Morís, Germán, García-García, Jorge, Muelas, Nuria, León Hernández, Juan Carlos, Rabasa, Maria, Lora, David, Blázquez, Alberto, Arenas, Joaquín, and Martin, Miguel Ángel
Published: 2022
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3. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

Author: Stavusis, Janis, primary, Micule, Ieva, additional, Wright, Nathan T., additional, Straub, Volker, additional, Topf, Ana, additional, Panadés-de Oliveira, Luísa, additional, Domínguez-González, Cristina, additional, Inashkina, Inna, additional, Kidere, Dita, additional, Chrestian, Nicolas, additional, and Lace, Baiba, additional
Published: 2020
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4. Late onset distal myopathy: A new telethoninopathy

Author: Blanco-Palmero, Víctor Antonio, primary, Hernández-Laín, Aurelio, additional, Uriarte-Pérez de Urabayen, David, additional, Cantero-Montenegro, Diana, additional, Olivé, Montse, additional, and Domínguez-González, Cristina, additional
Published: 2019
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5. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Author: de Fuenmayor-Fernández de la Hoz, Carlos Pablo, primary, Hernández-Laín, Aurelio, additional, Olivé, Montse, additional, Fernández-Marmiesse, Ana, additional, and Domínguez-González, Cristina, additional
Published: 2016
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