المؤلفون: Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W., Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

مصطلحات موضوعية: Aceruloplasminèmia, Ceruloplasmina, Metabolisme del ferro, Malaltia neurodegenerativa, Anèmia, Ferritina, Aceruloplasminemia, Metabolismo del hierro, Enfermedad neurodegenerativa, Anemia, Ceruloplasmin, Iron metabolism, Neurodegenerative disease, Ferritin, 616.8

الوقت: 61

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences; 21;7; Vila Cuenca, Marc; Marchi, Giacomo; Barqué, Anna [et al.]. Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis. International Journal of Molecular Sciences, 2020, 21(7), 2374. Disponible en: . Fecha de acceso: 18 ene. 2022. DOI:10.3390/ijms21072374; http://hdl.handle.net/20.500.12328/3075Test; https://dx.doi.org/10.3390/ijms21072374Test

الإتاحة: https://doi.org/20.500.12328/3075Test
https://doi.org/10.3390/ijms21072374Test
https://hdl.handle.net/20.500.12328/3075Test

المؤلفون: Joshi, Ricky, Shvartsman, Maya, Morán, Erica, Lois, Sergi, Aranda, Jessica, Barqué, Anna, De la Cruz, Xavier, Bruguera, Miquel, Vagace, José Manuel, Gervasini, Guillermo, Sanz, Cristina, Sánchez, Mayka

مصطلحات موضوعية: Mutacions, Transferrina-2, Hemocromatosi hereditària tipus 3, Mutaciones, Hemocromatosis hereditaria tipo 3, Mutations, Transferrin-2, Hereditary hemochromatosis type 3

الوقت: 57

وصف الملف: application/pdf

العلاقة: Molecular Genetics & Genomic Medicine; 3;3; http://hdl.handle.net/20.500.12328/3090Test; https://dx.doi.org/10.1002/mgg3.136Test

الإتاحة: https://doi.org/20.500.12328/3090Test
https://doi.org/10.1002/mgg3.136Test
https://hdl.handle.net/20.500.12328/3090Test

المؤلفون: Barqué, Anna, Jan, Kyleen, De La Fuente, Emanuel, Nicholas, Christina L., Hynes, Richard O, Naba, Alexandra

المساهمون: Koch Institute for Integrative Cancer Research at MIT, Massachusetts Institute of Technology. Department of Biology

المصدر: Prof. Richard Hynes

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1002/dvdy.258Test; Developmental Dynamics; https://hdl.handle.net/1721.1/131167Test; Barqué, Anna et al. "Knockout of the gene encoding the extracellular matrix protein SNED1 results in early neonatal lethality and craniofacial malformations." Developmental Dynamics 250, 2 (October 2020): 274-294. © 2020 American Association of Anatomists

الإتاحة: https://doi.org/10.1002/dvdy.258Test
https://hdl.handle.net/1721.1/131167Test

المؤلفون: Barqué, Anna, Davis, Martin, Naba, Alexandra

المصدر: The FASEB Journal ; volume 35, issue S1 ; ISSN 0892-6638 1530-6860

الإتاحة: https://doi.org/10.1096/fasebj.2021.35.s1.00228Test

المؤلفون: Vallet, Sylvain D., Davis, Martin N., Barqué, Anna, Thahab, Ali H., Ricard-Blum, Sylvie, Naba, Alexandra

المصدر: Biochemical Journal ; volume 478, issue 7, page 1413-1434 ; ISSN 0264-6021 1470-8728

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1042/bcj20200675Test
https://portlandpress.com/biochemj/article-pdf/478/7/1413/908402/bcj-2020-0675.pdfTest

المؤلفون: Barqué, Anna, Jan, Kyleen, De La Fuente, Emanuel, Nicholas, Christina L., Hynes, Richard O., Naba, Alexandra

المساهمون: Howard Hughes Medical Institute, The National Cancer Institute, U.S. Department of Defense

المصدر: Developmental Dynamics ; volume 250, issue 2, page 274-294 ; ISSN 1058-8388 1097-0177

الإتاحة: https://doi.org/10.1002/dvdy.258Test

المؤلفون: Cuenca, Marc Vila, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Borges, Marina Dorigatti, de Albuquerque, Dulcinéia Martins, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnytė, Birutė, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras Ferdinandas, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

المصدر: International journal of molecular sciences., Basel : MDPI, 2020, vol. 21, no. 7, art. no. 2374, p. [1-14]. ; ISSN 1661-6596 ; eISSN 1422-0067

مصطلحات موضوعية: aceruloplasminemia, ceruloplasmin, iron metabolism, neurodegenerative disease

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:54838682/54838682.pdfTest; https://repository.vu.lt/VU:ELABAPDB54838682&prefLang=en_USTest

الإتاحة: https://doi.org/10.3390/ijms21072374Test
https://repository.vu.lt/VU:ELABAPDB54838682&prefLang=en_USTest

المؤلفون: Iyer, Priyanka, Dadu, Ramona, Barque, Anna, Cleslei, Zanelli, Jiang, Huimin, Walsh, Sean, Zheng, Xingyu, Hao, Yangyang, Huang, Jing, Klopper, Joshua P, Kloos, Richard T, Cabanillas, Maria

المصدر: J Endocr Soc

مصطلحات موضوعية: Tumor Biology, stat, envir

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554516Test/

الإتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554516Test/

المؤلفون: Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

المساهمون: Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neu, Burnyte, Birute, Utkus, Algirda, Busti, Fabiana, Kaubrys, Gintara, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

مصطلحات موضوعية: aceruloplasminemia, anemia, ceruloplasmin, ferritin, iron metabolism, neurodegenerative disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32235485; info:eu-repo/semantics/altIdentifier/wos/WOS:000535574200116; volume:21; issue:7; firstpage:2374; lastpage:2374; numberofpages:1; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11562/1030225Test

الإتاحة: https://doi.org/10.3390/ijms21072374Test
http://hdl.handle.net/11562/1030225Test

المؤلفون: Joshi, Ricky, Shvartsman, Maya, Morán, Erica, Lois, Sergi, Aranda, Jessica, Barqué, Anna, de la Cruz, Xavier, Bruguera, Miquel, Vagace, José Manuel, Gervasini, Guillermo, Sanz, Cristina, Sánchez, Mayka

المساهمون: “Ayudas a proyectos de Investigación en Ciéncias de la Vida” from Ramon Areces Private Foundation, Ministry of Economy and Competitiveness, Spanish Ministry of Science and Innovation, Federation of European Biochemical Societies

المصدر: Molecular Genetics & Genomic Medicine ; volume 3, issue 3, page 221-232 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.136Test