Found: 16

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  • Pathological Features in Paediatric Patients with TK2 Deficiency.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11002, doi. 10.3390/ijms231911002
    By:
    • Jou, Cristina;
    • Nascimento, Andres;
    • Codina, Anna;
    • Montoya, Julio;
    • López-Gallardo, Ester;
    • Emperador, Sonia;
    • Ruiz-Pesini, Eduardo;
    • Montero, Raquel;
    • Natera-de Benito, Daniel;
    • Ortez, Carlos I.;
    • Marquez, Jesus;
    • Zelaya, Maria V.;
    • Gutierrez-Mata, Alfonso;
    • Badosa, Carmen;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jesica;
    • Roldán, Monica;
    • Camara, Yolanda;
    • Marti, Ramon;
    • Ferrer, Isidre
    Publication type:
    Article

  • CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 915, doi. 10.1002/ajmg.a.61122
    By:
    • Carrera‐García, Laura;
    • Natera‐de Benito, Daniel;
    • Dieterich, Klaus;
    • Banda, Marta G. G.;
    • Felter, Adrien;
    • Inarejos, Emili;
    • Codina, Anna;
    • Jou, Cristina;
    • Roldan, Monica;
    • Palau, Francesc;
    • Hoenicka, Janet;
    • Pijuan, Jordi;
    • Ortez, Carlos;
    • Expósito‐Escudero, Jessica;
    • Durand, Chantal;
    • Nugues, Frédérique;
    • Jimenez‐Mallebrera, Cecilia;
    • Colomer, Jaume;
    • Carlier, Robert Y.;
    • Lochmüller, Hanns
    Publication type:
    Article

  • Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1710, doi. 10.1002/ajmg.a.38230
    By:
    • Carrera‐García, Laura;
    • Rivas‐Crespo, Maximiliano Francisco;
    • Fernández García, María Soledad
    Publication type:
    Article

  • Hijo de madre con síndrome de HELLP: características y papel de la prematuridad, bajo peso y leucopenia en su evolución.

    Published in:
    Boletín Médico del Hospital Infantil de México, 2015, v. 72, n. 5, p. 318, doi. 10.1016/j.bmhimx.2015.09.006
    By:
    • González Álvarez, Carmen Elena;
    • González García, Lara Gloria;
    • Carrera García, Laura;
    • Díaz Zabala, Mikel;
    • Suárez Rodríguez, Marta;
    • Arias Llorente, Rosa Patricia;
    • Costa Romero, Marta;
    • Solís Sánchez, Gonzalo
    Publication type:
    Article

  • Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 5, p. 971, doi. 10.1111/epi.16493
    By:
    • Natera‐de Benito, Daniel;
    • Muchart, Jordi;
    • Itzep, Debora;
    • Ortez, Carlos;
    • González‐Quereda, Lidia;
    • Gallano, Pía;
    • Ramirez, Alia;
    • Aparicio, Javier;
    • Domínguez‐Carral, Jana;
    • Carrera‐García, Laura;
    • Expósito‐Escudero, Jessica;
    • Pardo Cardozo, Nathalia;
    • Cuadras, Daniel;
    • Codina, Anna;
    • Jou, Cristina;
    • Jimenez‐Mallebrera, Cecilia;
    • Palau, Francesc;
    • Colomer, Jaume;
    • Arzimanoglou, Alexis;
    • Nascimento, Andrés
    Publication type:
    Article

  • Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 647, doi. 10.3233/JND-230216
    By:
    • Estévez-Arias, Berta;
    • Matalonga, Leslie;
    • Martorell, Loreto;
    • Codina, Anna;
    • Ortez, Carlos;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jessica;
    • Yubero, Delia;
    • Hoenicka, Janet;
    • Jou, Cristina;
    • Palau, Francesc;
    • Beltran, Sergi;
    • Lochmüller, Hanns;
    • Töpf, Ana;
    • Nascimento, Andrés;
    • Natera-de Benito, Daniel
    Publication type:
    Article

  • Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 653, doi. 10.3233/JND-230012
    By:
    • Trifunov, Selena;
    • Natera-de Benito, Daniel;
    • Carrera-García, Laura;
    • Codina, Anna;
    • Expósito-Escudero, Jesica;
    • Ortez, Carlos;
    • Medina, Julita;
    • Torres Alcala, Soraya;
    • Bernal, Sara;
    • Alias, Laura;
    • Badosa, Carmen;
    • Balsells, Sol;
    • Alcolea, Daniel;
    • Nascimento, Andres;
    • Jimenez-Mallebrera, Cecilia
    Publication type:
    Article

  • Epilepsy in Duchenne and Becker muscular dystrophies.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1456, doi. 10.1002/acn3.52058
    By:
    • Armijo Gómez, Jesus Alfonso;
    • Fernandez‐Garcia, Miguel A.;
    • Camacho, Ana;
    • Liz, Marlin;
    • Ortez, Carlos;
    • Lafuente‐Hidalgo, Miguel;
    • Toledo Bravo‐de Laguna, Laura;
    • Estévez‐Arias, Berta;
    • Carrera‐García, Laura;
    • Expósito‐Escudero, Jessica;
    • Domínguez‐Carral, Jana;
    • Nascimento, Andres;
    • Natera‐de Benito, Daniel
    Publication type:
    Article

  • Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 408, doi. 10.1002/acn3.51731
    By:
    • Natera‐de Benito, Daniel;
    • Olival, Jonathan;
    • Garcia‐Cabau, Carla;
    • Jou, Cristina;
    • Roldan, Mònica;
    • Codina, Anna;
    • Expósito‐Escudero, Jessica;
    • Batlle, Cristina;
    • Carrera‐García, Laura;
    • Ortez, Carlos;
    • Salvatella, Xavier;
    • Palau, Francesc;
    • Nascimento, Andrés;
    • Hoenicka, Janet
    Publication type:
    Article

  • AVANCES EN EL TRATAMIENTO DE LA DISTROFIA DE DUCHENNE.

    Published in:
    Medicina (Buenos Aires), 2019, v. 79, p. 77
    By:
    • ORTEZ, CARLOS;
    • NATERA DE BENITO, DANIEL;
    • CARRERA GARCÍA, LAURA;
    • EXPÓSITO, JESSICA;
    • NOLASCO, GREGORIO;
    • NASCIMENTO, ANDRÉS
    Publication type:
    Article

  • DIAGNÓSTICO Y TRATAMIENTO DE LAS MIOPATÍAS CONGÉNITAS.

    Published in:
    Medicina (Buenos Aires), 2019, v. 79, p. 82
    By:
    • NATERA DE BENITO, DANIEL;
    • ORTEZ, CARLOS;
    • CARRERA GARCÍA, LAURA;
    • EXPÓSITO, JESSICA;
    • BOBADILLA, EDNA;
    • NASCIMENTO, ANDRÉS
    Publication type:
    Article

  • Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 4, p. 479, doi. 10.1007/s00401-023-02551-7
    By:
    • Nascimento, Andres;
    • Bruels, Christine C.;
    • Donkervoort, Sandra;
    • Foley, A. Reghan;
    • Codina, Anna;
    • Milisenda, Jose C.;
    • Estrella, Elicia A.;
    • Li, Chengcheng;
    • Pijuan, Jordi;
    • Draper, Isabelle;
    • Hu, Ying;
    • Stafki, Seth A.;
    • Pais, Lynn S.;
    • Ganesh, Vijay S.;
    • O'Donnell-Luria, Anne;
    • Syeda, Safoora B.;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jessica;
    • Yubero, Delia;
    • Martorell, Loreto
    Publication type:
    Article

  • LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135438
    By:
    • Cesar, Sergi;
    • Coll, Monica;
    • Fiol, Victoria;
    • Fernandez-Falgueras, Anna;
    • Cruzalegui, Jose;
    • Iglesias, Anna;
    • Moll, Isaac;
    • Perez-Serra, Alexandra;
    • Martínez-Barrios, Estefanía;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Puigmulè, Marta;
    • Alcalde, Mireia;
    • Lopez, Laura;
    • Pico, Ferran;
    • Berrueco, Rubén;
    • Brugada, Josep;
    • Zschaeck, Irene;
    • Natera-de Benito, Daniel;
    • Carrera-García, Laura
    Publication type:
    Article

  • SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49746-4
    By:
    • Cao, Xinyu;
    • Lake, Madryn;
    • Van der Hoeven, Gerd;
    • Claes, Zander;
    • del Pino García, Javier;
    • Lemaire, Sarah;
    • Greiner, Elora C.;
    • Karamanou, Spyridoula;
    • Van Eynde, Aleyde;
    • Kettenbach, Arminja N.;
    • Natera de Benito, Daniel;
    • Carrera García, Laura;
    • Hernando Davalillo, Cristina;
    • Ortez, Carlos;
    • Nascimento, Andrés;
    • Urreizti, Roser;
    • Bollen, Mathieu
    Publication type:
    Article

  • Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
    By:
    • Martínez Olorón, Patricia;
    • Alegría, Iosune;
    • Cesar, Sergi;
    • del Olmo, Bernat;
    • Martínez-Barrios, Estefanía;
    • Carrera-García, Laura;
    • Natera-de Benito, Daniel;
    • Nascimento, Andrés;
    • Campuzano, Oscar;
    • Sarquella-Brugada, Georgia
    Publication type:
    Article

  • Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

    Published in:
    Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.784880
    By:
    • Pijuan, Jordi;
    • Cantarero, Lara;
    • Natera-de Benito, Daniel;
    • Altimir, Arola;
    • Altisent-Huguet, Anna;
    • Díaz-Osorio, Yaiza;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jessica;
    • Ortez, Carlos;
    • Nascimento, Andrés;
    • Hoenicka, Janet;
    • Palau, Francesc
    Publication type:
    Article