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1Academic Journal
المؤلفون: Díaz‐Osorio, Yaiza, Gimeno‐Agud, Helena, Mari‐Vico, Rosanna, Illescas, Sofía, Ramos, Jose Miguel, Darling, Alejandra, García‐Cazorla, Àngels, Oyarzábal, Alfonso
المساهمون: Instituto de Salud Carlos III
المصدر: Journal of Inherited Metabolic Disease ; volume 48, issue 1 ; ISSN 0141-8955 1573-2665
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2Dissertation/ Thesis
المؤلفون: García Cazorla, Àngels
المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
Thesis Advisors: Pintos Morell, Guillem
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Rare diseases, Energetic metabolism, Mitochnodrial disorders, Ciències de la Salut
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Musokhranova, Uliana, Grau, Cristina, Vergara, Cristina, Rodríguez-Pascau, Laura, Xiol, Clara, Castells, Alba A., Alcántara, Soledad, Rodríguez Pombo, Pilar, Pizcueta, Pilar, Martinelli, Marc, García Cazorla, angels, Oyarzabal, Alfonso
المساهمون: UAM. Departamento de Biología Molecular
مصطلحات موضوعية: Bioenergetics, leriglitazone, metabolic modulation, mitochondria, neuroinflammation, rett syndrome, Biología y Biomedicina / Biología
وصف الملف: application/pdf
Relation: Journal of Translational Medicine; https://doi. org/10.1186/s12967-023-04622-5; Gobierno de España. PID2020-115748RB-I00; Journal of Translational Medicine 21.1 (2023): 756; http://hdl.handle.net/10486/715091; 21
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4Academic Journal
المؤلفون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H C, Bertoldi, Mariarita, McGinty, Gabrielle E, DiBacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K Michael, Sahin, Mustafa, Pearl, Phillip L
المساهمون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H C, Bertoldi, Mariarita, Mcginty, Gabrielle E, Dibacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thoma, Jeltsch, Kathrin, García-Cazorla, Àngel, Juliá-Palacios, Natalia, Gibson, K Michael, Sahin, Mustafa, Pearl, Phillip L
مصطلحات موضوعية: Development, GABA, Neurotransmitters, Succinic semialdehyde dehydrogenase
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/38658850; info:eu-repo/semantics/altIdentifier/wos/WOS:001207717700001; volume:16; issue:21; firstpage:1; lastpage:15; numberofpages:15; journal:JOURNAL OF NEURODEVELOPMENTAL DISORDERS; https://hdl.handle.net/11562/1125551; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191295722; https://doi.org/10.1186/s11689-024-09538-9
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5Academic Journal
المؤلفون: Julia‐Palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thomas, Fung, Cheuk‐Wing, Wong, Suet‐Na, Cortès‐Saladelafont, Elisenda, Rovira‐Remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐Andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐Klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐Cazorla, Àngels, Opladen, Thomas
المساهمون: Julia‐palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thoma, Fung, Cheuk‐wing, Wong, Suet‐na, Cortès‐saladelafont, Elisenda, Rovira‐remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐cazorla, Àngel, Opladen, Thomas
مصطلحات موضوعية: SSADH deficiency, evolving phenotype, genetic spectrum, in silico analyse, long-term follow-up
Relation: info:eu-repo/semantics/altIdentifier/pmid/38499966; info:eu-repo/semantics/altIdentifier/wos/WOS:001186595000001; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11573/1707159; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188475525
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6Academic Journal
المؤلفون: Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro, del Toro, Mireia, Garcia‐Cazorla, Angels, Julia‐Palacios, Natalia A., Jou, Cristina, Yubero, Delia, López, Luis Carlos, Hernández Camacho, Juan Diego, López Lluch, Guillermo, Ballesteros Simarro, Manuel, Rodríguez Aguilera, Juan Carlos, Calvo, Gloria Brea, Cascajo Almenara, María Victoria, Artuch, Rafael, Santos‐Ocaña, Carlos
المساهمون: Instituto de Salud Carlos III, Junta de Andalucía, Ministry of Education, Culture and Sports, Departament de Salut, Generalitat de Catalunya, Muscular Dystrophy Association
المصدر: Journal of Inherited Metabolic Disease ; volume 47, issue 5, page 1047-1068 ; ISSN 0141-8955 1573-2665
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7Academic Journal
المؤلفون: Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L., Elsea, Sarah H., García-Cazorla, Àngels, Gibson, K. Michael, Gropman, Andrea L., Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H.C., Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A., Roullet, Jean-Baptiste, Pearl, Phillip L.
المساهمون: Boston Childrens Hospital, NICHD
المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108363 ; ISSN 1096-7192
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8Academic Journal
المؤلفون: Planas-Serra, Laura, Launay, Nathalie, Goicoechea, Leire, Heron, Bénédicte, Jou, Cristina, Juliá-Palacios, Natalia, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, De la Torre, Carolina, Gelot, Antoinette, Marsal, María, Loza-Álvarez, Pablo, García-Cazorla, Angels, Fatemi, Ali, Ferrer, Isidre, Portero-Otín, Manuel, Area-Gomez, Estela, Pujol, Aurora
المساهمون: Centro de Investigación Biomédica en Red Enfermedades Raras (España), Hesperia Foundation, Generalitat de Catalunya, Instituto de Salud Carlos III, European Commision, Fundació La Marató de TV3, Ministerio de Economía y Competitividad (España), Fundació Privada Cellex, Fundació Mir-Puig, Planas-Serra, Laura, Launay, Nathalie, Goicoechea, Leire, Heron, Bénédicte, Jou, Cristina, Juliá-Palacios, Natalia, Fourcade, Stéphane, Casasnovas, Carlos, Marsal, María, Loza-Álvarez, Pablo, García-Cazorla, Angels, Fatemi, Ali, Ferrer, Isidre, Portero-Otín, Manuel, Area-Gomez, Estela, Pujol, Aurora
مصطلحات موضوعية: Bioenergetics, Demyelinating disorders, Lipid rafts, Metabolism, Neuroscience
Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC/H2020/871124; Publisher's version; https://doi.org/10.1172/JCI162957; Sí; Journal of Clinical Investigation 133 (10) e162957 (2023); http://hdl.handle.net/10261/310089
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9Academic Journal
المؤلفون: Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, de Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothée, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, de Vivo, Darryl, C, An, Isabelle, Bailly, Laurent, Bendetowicz, David, Charles, Perrine, Delorme, Cécile, Demeret, Sophie, Giron, Camille, Heide, Solveig, Heinzmann, Anna, Lalaude, Mathilde, Méneret, Aurélie, Mezouar, Nicolas, Monin, Marie-Lorraine, Mouthon, Linda, Roze, Emmanuel, Tarrano, Clément, Villain, Nicolas, Yazbeck, Elise, Auvin, Stéphane, Da Costa, Lydie, Dozières, Blandine, Portes, Vincent Des, Gokce-Samar, Zeynep, Panagiotakaki, Eleni, Souci, Sabrine, Toulouse, Joseph, Bellesme, Céline, Maurey, Hélène, Salah, Lucie, de Villemeur, Thierry Billette, Garzon, Pauline, Héron, Bénédicte, Isapof, Arnaud, Nougues, Marie-Christine, Ravelli, Claudia, Renaldo, Florence, Rodriguez, Diana, Valence, Stéphanie, Dangles, Marie-Thérèse, de Lonlay, Pascale, Desguerre, Isabelle, Durrleman, Chloé, Hully, Marie, Albertini, Francesca, Cano, Aline, Chabrol, Brigitte, Chavany, Julie, Kaphan, Elsa, Lagarde, Stanislas, Villeneuve, Nathalie, Avez-Couturier, Justine, Chaton, Laurence, Cuvellier, Jean-Christophe, Dehak, Rabha, Ballay, Florence Flamein, Floret, Valentine, Remérand, Ganaëlle, Abi Warde, Marie-Thérèse, Anheim, Mathieu, de Feraudy, Yvan, Gebus, Odile, Perriard, Caroline, Spitz, Marie-Aude, Khalil, Mirna, Tosi, Cécilia Marelli, Alvarez, Blanca Mercedes, Meyer, Pierre, Valle, Sarai Urtiaga, Canon, Mathilde, Ioos, Christine, Espil, Caroline, Husson, Marie, Goizet, Cyril, Michaud, Vincent, Pedespan, Jean-Michel, Damaj, Léna, Hadjadj, Sarah, Lavillaureix, Alinoë, Lepage, Jean-Marie, Ugolin, Mélissa, Froget, Rachel, Laroche, Cécile, Cancès, Claude, Salel, Yu Jin, Viguier, Agnès, Mazzola, Laure, Perrin, Laurine, Besson, Gérard, Dubois, Fanny, Lametery, Elodie, Jacquet, Coralie, de Pontual, Loïc, Castelnau, Pierre, Lagrue, Emmanuelle, Gibaud, Marc, Chouchane, Mondher, Darmency, Véronique, Fatus, Clémence Fauconnier, Bilbault, Claire, Cullier, Anne Charlotte, Mekary, Jacinthe, Touhami, Jawida, Baer, Marie-Elodie, Litou, Nadine, Samaan, Simon, Béesau, Christophe, Bitaudeau, Floriane, Cousin, Christelle, Desport, Elodie, Djouadi, Lynda, Hamadi, Yasmine, Lebreton, Emeline, Moriceau, Sandra
المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), METAFORA Biosystems, Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital de Hautepierre Strasbourg, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Hôpital Raymond Poincaré (Garches) GHU AP-HP Université Paris-Saclay, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Département Neurologie CHU Toulouse, Pôle Neurosciences CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) Hôpital de la Timone - APHM, Hôpital de la Timone CHU - APHM (TIMONE), Hôpital Roger Salengro Lille, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier de la Côte Basque (CHCB), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CIC Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Saint Eloi CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Laboratoire CERBA Saint Ouen l'Aumône, Aghia Sofia Children's Hospital, Hospital Sant Joan de Déu Barcelona, AP-HP - Hôpital Bichat - Claude Bernard Paris, Service de neuropédiatrie et maladies métaboliques CHU Robert-Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Columbia University Irving Medical Center (CUIMC), CHU Pitié-Salpêtrière AP-HP, This study was supported by French Health Authorities, through the Forfait Innovation, and has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 806038.
المصدر: ISSN: 0028-3878.
مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/37076312; PUBMED: 37076312; PUBMEDCENTRAL: PMC10256121
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10Academic Journal
المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Thöny, Beat, Blau, Nenad
المصدر: Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; Zeev, Bruria Ben; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H; Flint, Lisa; García-Cazorla, Àngels; Gijavanekar, Charul; Gümüş, Emel Yılmaz; Hamad, Muddathir H; Hişmi, Burcu; Honzik, Tomas; Hübschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Kasapkara, Çiğdem Seher; Kurian, Manju A; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; et al; Thöny, Beat; Blau, Nenad (2023). Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein ....
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, ACMG, Dopamine, Neurotransmitter disorder, Serotonin, Variant effect prediction
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/253036/1/ZORA_253036.pdf; https://www.zora.uzh.ch/id/eprint/253036/2/ZORA_253036_Corrigendum.pdf; info:pmid/37348148; urn:issn:1096-7192
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11Academic Journal
المؤلفون: Justel, Maria, Jou, Cristina, Sariego-Jamardo, Andrea, Juliá-Palacios, Natalia Alexandra, Ortez, Carlos, Poch, Maria Luisa, Hedrera-Fernandez, Antonio, Gomez-Martin, Hilario, Codina, Anna, Dominguez-Carral, Jana, Muxart, Jordi, Hernández-Laín, Aurelio, Vila-Bedmar, Sara, Zulaica, Miren, Castro, Margarita del Carmen, de la Osa-Langreo, Alberto, Peña-Valenceja, Alfonso, Marcos-Vadillo, Elena, Prieto-Matos, Pablo, Pascual-Pascual, Samuel Ignacio, López de Munain, Adolfo, Camacho, Ana, Estevez-Arias, Berta, Musokhranova, Uliana, Olivella, Mireia, Oyarzábal, Alfonso, Jimenez-Mallebrera, Cecilia, Domínguez-González, Cristina, Nascimento, Andrés, García-Cazorla, Àngels, Natera-de Benito, Daniel, Cancho-Candela, Ramon
وصف الملف: application/pdf
Relation: https://doi.org/10.1136/jmg-2022-109132; Journal of Medical Genetics. 2023 May 16:jmg-2022-109132.; https://uvadoc.uva.es/handle/10324/64655; 965; 10; 973; Journal of Medical Genetics; 60
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12Academic Journal
المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Kuseyri Hübschmann , O , Hwu , W L , ....
Relation: https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fab
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13Academic Journal
المؤلفون: Schlüter, Agatha, Vélez Santamaría, Valentina, Verdura, Edgard, Rodríguez Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes Pedret, Christian, Albertí Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás Vila, Miguel, Bullich, Gemma, García Pérez, M. Asunción, Sobrido Gómez, María Jesús, López Laso, Eduardo, Fons, Carme, Toro, Mireia del, Macaya, Alfons, García Cazorla, Àngels, Ortiz Martínez, Antonio José, Ortez, Carlos Ignacio, Cáceres Marzal, Cristina, Martínez Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Antón Airaldi, Ileana, Ruíz Martínez, Javier, Fernández Ramos, Joaquin A., Vázquez, Juan Francisco, Díez Porras, Laura, Vázquez Cancela, María, O’Callaghan, Mar, Pablo Sánchez, Tamara, Nedkova, Velina, Maraña Pérez, Ana Isabel, Beltran, Sergi, Gutiérrez Solana, Luis G., Pérez Jurado, Luis A., Aguilera Albesa, Sergio, López de Munain, Adolfo, Casasnovas, Carlos, Pujol, Aurora, HSP/ATAXIA Workgroup
المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
مصطلحات موضوعية: Algorismes genètics, Genètica de poblacions, Genetic algorithms, Population Genetics
وصف الملف: 19 p.; application/pdf
Relation: Reproducció del document publicat a: https://doi.org/10.1186/s13073-023-01214-2; Genome Medicine, 2023, vol. 15, num. 1; https://doi.org/10.1186/s13073-023-01214-2; http://hdl.handle.net/2445/205800
الاتاحة: http://hdl.handle.net/2445/205800
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14Academic Journal
المؤلفون: Tristá Noguero, Alba, Fernández Carasa, Irene, Calatayud, Carles, Bermejo Casadesús, Cristina, Pons Espinal, Meritxell, Colini Baldeschi, Arianna, Campa, Leticia, Artigas, Francesc, Bortolozzi, Analia, Domingo Jiménez, Rosario, Ibáñez, Salvador, Pineda, Mercè, Artuch Iriberri, Rafael, Raya, Ángel, García Cazorla, Àngels, Consiglio, Antonella
المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
مصطلحات موضوعية: Malalties rares, Cèl·lules mare, Fenotip, Dopamina, Rare diseases, Stem cells, Phenotype, Dopamine
وصف الملف: 15 p.; application/pdf
Relation: Reproducció del document publicat a: https://doi.org/10.15252/emmm.202215847; EMBO Molecular Medicine, 2023, vol. 15, num. 3, p. e15847; https://doi.org/10.15252/emmm.202215847; http://hdl.handle.net/2445/198344
الاتاحة: http://hdl.handle.net/2445/198344
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15Academic Journal
المؤلفون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L, Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K Michael, Bertoldi, Mariarita, Pearl, Phillip L
المساهمون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Cesaro, Samuele, Dibacco, Melissa L, Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thoma, Jeltsch, Kathrin, García-Cazorla, Àngel, Juliá-Palacios, Natalia, Gibson, K Michael, Bertoldi, Mariarita, Pearl, Phillip L
مصطلحات موضوعية: n/a
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/37962671; info:eu-repo/semantics/altIdentifier/wos/WOS:001104304600001; volume:142; issue:12; firstpage:1755; lastpage:1776; numberofpages:22; journal:HUMAN GENETICS; https://hdl.handle.net/11562/1114807; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85176393117; https://doi.org/10.1007/s00439-023-02613-6
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16Academic Journal
المؤلفون: Tristán-Noguero, Alba, Fernández-Carasa, Irene, Calatayud, Carles, Bermejo-Casadesús, Cristina, Pons-Espinal, Meritxell, Colini Baldeschi, Arianna, Campa, Leticia, Artigas, Francesc, Bortolozzi, Analía, Domingo-Jiménez, Rosario, Ibáñez, Salvador, Pineda, Mercè, Artuch, Rafael, Raya, Ángel, García-Cazorla, Àngels, Consiglio, Antonella
المساهمون: European Research Council, European Commission, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España), Ministerio de Ciencia e Innovación (España), Red de Terapia Celular (España), Generalitat de Catalunya, Fundació La Marató de TV3
مصطلحات موضوعية: Dopamine, iPSC, L-Dopa, Parkinsonism, Tyrosine hydroxylase deficiency
وصف الملف: application/pdf
Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC/H2020/957581; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-108792GB-I00/ES/DISECCION DE MECANISMOS PATOGENICOS EN LA ENFERMEDAD DE PARKINSON MEDIANTE EL USO DE UN MODELO HUMANO BASADO EN IPSC/; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-105136RB-I00/ES/CONEXION ENTRE EL ESTRES DEL RETICULO ENDOPLASMICO Y LA ALFA-SINUCLEOPATIA EN LOS TRASTORNOS CEREBRALES/; info:eu-repo/grantAgreement/AEI//PID2021-123925OB-I00; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTI2018-095377-B-I00/ES/ESTUDIO DE LOS MECANISMOS QUE RELACIONAN LAS PROPIEDADES DE LA MATRIX EXTRACELULAR Y LA REGENERACION%2FREPARACION CARDIACA/; info:eu-repo/grantAgreement/AEI//CEX2018-000792-M; Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at http://dx.doi.org/10.15252/emmm.202215847; http://dx.doi.org/10.15252/emmm.202215847; Sí; e-issn: 1757-4684; other CEX2018-000792-M; EMBO Molecular Medicine 15(3): e15847 (2023); http://hdl.handle.net/10261/337777
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17Academic Journal
المصدر: IBRO Neuroscience Reports ; volume 15, page S122 ; ISSN 2667-2421
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18Academic Journal
المؤلفون: Olivella, Mireia, Santos-Gómez, Ana, Juliá-Palacios, Natalia, Serra, Sílvia Locubiche, Soto, David, García-Cazorla, Àngels, Altafaj, Xavier
المصدر: IBRO Neuroscience Reports ; volume 15, page S71 ; ISSN 2667-2421
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19Academic Journal
المؤلفون: Díaz-Osorio, Yaiza, Serradell, Anna, Darling, Alejandra, García-Cazorla, Àngels, Oyarzábal, Alfonso
المصدر: IBRO Neuroscience Reports ; volume 15, page S552 ; ISSN 2667-2421
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20Academic Journal
المؤلفون: Illescas, Katia Sofia, Isern, Guerau Fernández, Oyarzábal, Alfonso, García-Cazorla, Àngels
المصدر: IBRO Neuroscience Reports ; volume 15, page S583 ; ISSN 2667-2421
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