Works by Palau, Francesc

Results: 84
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    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 1, p. 68, doi. 10.3390/jcm8010068
    By:
    • Jou, Cristina;
    • Ortigoza-Escobar, Juan D.;
    • O'Callaghan, Maria M.;
    • Nascimento, Andres;
    • Darling, Alejandra;
    • Pias-Peleteiro, Leticia;
    • Perez-Dueñas, Belén;
    • Pineda, Mercedes;
    • Codina, Anna;
    • Arjona, César;
    • Armstrong, Judith;
    • Palau, Francesc;
    • Ribes, Antonia;
    • Gort, Laura;
    • Tort, Frederic;
    • Navas, Placido;
    • Ruiz-Pesini, Eduardo;
    • Emperador, Sonia;
    • Lopez-Gallardo, Ester;
    • Bayona-Bafaluy, Pilar
    Publication type:
    Article
    3

    Daniel Cardona i Civit.

    Published in:
    Revista de Catalunya, 2024, n. 325, p. 143
    By:
    • MARCO-PALAU, FRANCESC
    Publication type:
    Article
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    Dysfunctional mitochondrial fission impairs cell reprogramming.

    Published in:
    Cell Cycle, 2016, v. 15, n. 23, p. 3240, doi. 10.1080/15384101.2016.1241930
    By:
    • Prieto, Javier;
    • León, Marian;
    • Ponsoda, Xavier;
    • García-García, Francisco;
    • Bort, Roque;
    • Serna, Eva;
    • Barneo-Muñoz, Manuela;
    • Palau, Francesc;
    • Dopazo, Joaquín;
    • López-García, Carlos;
    • Torres, Josema
    Publication type:
    Article
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    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
    6

    Coenzyme Q<sub>10</sub>-responsive ataxia: 2-year-treatment follow-up.

    Published in:
    Movement Disorders, 2010, v. 25, n. 9, p. 1262, doi. 10.1002/mds.23129
    By:
    • Pineda, Merce;
    • Montero, Raquel;
    • Aracil, Asuncion;
    • O'Callaghan, Mar M.;
    • Mas, Ana;
    • Espinos, Carmen;
    • Martinez-Rubio, Dolores;
    • Palau, Francesc;
    • Navas, Placido;
    • Briones, Paz;
    • Artuch, Rafael
    Publication type:
    Article
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    ETHICS, DATA AND INFORMATION IN GENOME SEQUENCING IN NEWBORNS.

    Published in:
    Studia Universitatis Babes-Bolyai, Bioethica (2011), 2021, v. 65, p. 119, doi. 10.24193/subbbioethica.2021.spiss.77
    By:
    • Lorenzo, David;
    • Esquerda, Montserrat;
    • Bofarull, Margarita;
    • Palau, Francesc;
    • Javier Ordoñez, Jose;
    • Cusi, Victoria;
    • Cambra, Francisco J.;
    • Illa, Marc;
    • Carrera, Joan
    Publication type:
    Article
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    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 5/6, p. 481, doi. 10.1111/cge.14113
    By:
    • Luque, Juan;
    • Mendes, Ingrid;
    • Gomez, Beatriz;
    • Morte, Beatriz;
    • Lopez de Heredia, Miguel;
    • Herreras, Enrique;
    • Corrochano, Virginia;
    • Bueren, Juan;
    • Gallano, Pía;
    • Artuch, Rafael;
    • Fillat, Cristina;
    • Pérez-Jurado, Luis A.;
    • Montoliu, Lluis;
    • Carracedo, Angel;
    • Millán, José M.;
    • Webb, Susan M.;
    • Palau, Francesc;
    • Lapunzina, Pablo
    Publication type:
    Article
    10

    Ethical questions concerning newborn genetic screening.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 1, p. 93, doi. 10.1111/cge.13828
    By:
    • Esquerda, Montserrat;
    • Palau, Francesc;
    • Lorenzo, David;
    • Cambra, Francisco Jose;
    • Bofarull, Margarita;
    • Cusi, Victoria;
    • Interdisciplinar en Bioetica, Grup
    Publication type:
    Article
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    Provision and quality assurance of preimplantation genetic diagnosis in Europe.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 3, p. 290, doi. 10.1038/sj.ejhg.5201976
    By:
    • Corveleyn, Anniek;
    • Morris, Michael A;
    • Dequeker, Elisabeth;
    • Sermon, Karen;
    • Davies, James Lawford;
    • Antiñolo, Guillermo;
    • Schmutzler, Andreas;
    • Vanecek, Jiri;
    • Nagels, Nick;
    • Zika, Eleni;
    • Palau, Francesc;
    • Ibarreta, Dolores
    Publication type:
    Article
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    Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

    Published in:
    Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 347, doi. 10.1111/j.1529-8027.2011.00369.x
    By:
    • Sevilla, Teresa;
    • Lupo, Vincenzo;
    • Sivera, Rafael;
    • Marco-Marín, Clara;
    • Martínez-Rubio, Dolores;
    • Rivas, Eloy;
    • Hernández, Arturo;
    • Palau, Francesc;
    • Espinós, Carmen
    Publication type:
    Article
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    Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease.

    Published in:
    Human Molecular Genetics, 2021, v. 30, n. 24, p. 2441, doi. 10.1093/hmg/ddab207
    By:
    • Nuevo-Tapioles, Cristina;
    • Santacatterina, Fulvio;
    • Sánchez-Garrido, Brenda;
    • de Arenas, Cristina Núñez;
    • Robledo-Bérgamo, Adrián;
    • Martínez-Valero, Paula;
    • Cantarero, Lara;
    • Pardo, Beatriz;
    • Hoenicka, Janet;
    • Murphy, Michael P.;
    • Satrústegui, Jorgina;
    • Palau, Francesc;
    • Cuezva, José M.
    Publication type:
    Article
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    ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10705, doi. 10.3390/ijms251910705
    By:
    • Domínguez-Berzosa, Laura;
    • Cantarero, Lara;
    • Rodríguez-Sanz, María;
    • Tort, Gemma;
    • Garrido, Elena;
    • Troya-Balseca, Johanna;
    • Sáez, María;
    • Castro-Martínez, Xóchitl Helga;
    • Fernandez-Lizarbe, Sara;
    • Urquizu, Edurne;
    • Calvo, Enrique;
    • López, Juan Antonio;
    • Palomo, Tomás;
    • Palau, Francesc;
    • Hoenicka, Janet
    Publication type:
    Article
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    Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

    Published in:
    Glia (0894-1491), 2013, v. 61, n. 7, p. 1041, doi. 10.1002/glia.22493
    By:
    • Gouttenoire, Estelle Arnaud;
    • Lupo, Vincenzo;
    • Calpena, Eduardo;
    • Bartesaghi, Luca;
    • Schüpfer, Fanny;
    • Médard, Jean‐Jacques;
    • Maurer, Fabienne;
    • Beckmann, Jacques S.;
    • Senderek, Jan;
    • Palau, Francesc;
    • Espinós, Carmen;
    • Chrast, Roman
    Publication type:
    Article
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    Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study.

    Published in:
    Gut Microbes, 2018, v. 9, n. 6, p. 551, doi. 10.1080/19490976.2018.1451276
    By:
    • Olivares, Marta;
    • Benítez-Páez, Alfonso;
    • de Palma, Giada;
    • Capilla, Amalia;
    • Nova, Esther;
    • Castillejo, Gemma;
    • Varea, Vicente;
    • Marcos, Ascensión;
    • Garrote, José Antonio;
    • Polanco, Isabel;
    • Donat, Ester;
    • Ribes-Koninckx, Carmen;
    • Calvo, Carmen;
    • Ortigosa, Luis;
    • Palau, Francesc;
    • Sanz, Yolanda
    Publication type:
    Article
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    Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

    Published in:
    PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178376
    By:
    • Soldevilla, Beatriz;
    • Cuevas-Martín, Carmen;
    • Ibáñez, Clara;
    • Santacatterina, Fulvio;
    • Alberti, María A.;
    • Simó, Carolina;
    • Casasnovas, Carlos;
    • Márquez-Infante, Celedonio;
    • Sevilla, Teresa;
    • Pascual, Samuel I.;
    • Sánchez-Aragó, María;
    • Espinos, Carmen;
    • Palau, Francesc;
    • Cuezva, José M.
    Publication type:
    Article
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    Call for participation in the neurogenetics consortium within the Human Variome Project.

    Published in:
    Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4
    By:
    • Haworth, Andrea;
    • Bertram, Lars;
    • Carrera, Paola;
    • Elson, Joanna;
    • Braastad, Corey;
    • Cox, Diane;
    • Cruts, Marc;
    • Dunnen, Johann;
    • Farrer, Matthew;
    • Fink, John;
    • Hamed, Sherifa;
    • Houlden, Henry;
    • Johnson, Dennis;
    • Nuytemans, Karen;
    • Palau, Francesc;
    • Rayan, Dipa;
    • Robinson, Peter;
    • Salas, Antonio;
    • Schüle, Birgitt;
    • Sweeney, Mary
    Publication type:
    Article
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    Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 53, doi. 10.1186/1750-1172-7-53
    By:
    • Armayones, Manuel;
    • Vilaseca, M Antònia;
    • Cutillas, Júlia;
    • Fàbrega, Jordi;
    • Fernández, Jorge Juan;
    • García, Mei;
    • Egea, Natàlia;
    • Pousada, Modesta;
    • Gómez-Zuñiga, Beni;
    • Pérez-Payarols, Jaume;
    • Artuch, Rafael;
    • Palau, Francesc;
    • Serrano, Mercedes
    Publication type:
    Article
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    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
    By:
    • Batllori, Marta;
    • Molero‐Luis, Marta;
    • Ormazabal, Aida;
    • Montero, Raquel;
    • Sierra, Cristina;
    • Ribes, Antonia;
    • Montoya, Julio;
    • Ruiz‐Pesini, Eduardo;
    • O'Callaghan, Mar;
    • Pias, Leticia;
    • Nascimento, Andrés;
    • Palau, Francesc.;
    • Armstrong, Judith;
    • Yubero, Delia;
    • Ortigoza‐Escobar, Juan D.;
    • García‐Cazorla, Angels;
    • Artuch, Rafael
    Publication type:
    Article
    44

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
    By:
    • Batllori, Marta;
    • Molero-Luis, Marta;
    • Ormazabal, Aida;
    • Montero, Raquel;
    • Sierra, Cristina;
    • Ribes, Antonia;
    • Montoya, Julio;
    • Ruiz-Pesini, Eduardo;
    • O'Callaghan, Mar;
    • Pias, Leticia;
    • Nascimento, Andrés;
    • Palau, Francesc.;
    • Armstrong, Judith;
    • Yubero, Delia;
    • Ortigoza-Escobar, Juan D.;
    • García-Cazorla, Angels;
    • Artuch, Rafael
    Publication type:
    Article
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    Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

    Published in:
    Human Genetics, 2024, v. 143, n. 3, p. 279, doi. 10.1007/s00439-024-02657-2
    By:
    • Brooks, Daniel;
    • Burke, Elizabeth;
    • Lee, Sukyeong;
    • Eble, Tanya N.;
    • O'Leary, Melanie;
    • Osei-Owusu, Ikeoluwa;
    • Rehm, Heidi L.;
    • Dhar, Shweta U.;
    • Emrick, Lisa;
    • Bick, David;
    • Nehrebecky, Michelle;
    • Macnamara, Ellen;
    • Casas-Alba, Dídac;
    • Armstrong, Judith;
    • Prat, Carolina;
    • Martínez-Monseny, Antonio F.;
    • Palau, Francesc;
    • Liu, Pengfei;
    • Adams, David;
    • Lalani, Seema
    Publication type:
    Article
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