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, Departament de Salut, Generalitat de Catalunya, Muscular Dystrophy Association

المصدر: Journal of Inherited Metabolic Disease ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12776Test

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

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38658850; volume:16; issue:21; firstpage:1; lastpage:15; numberofpages:15; journal:JOURNAL OF NEURODEVELOPMENTAL DISORDERS; https://hdl.handle.net/11562/1125551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191295722; https://doi.org/10.1186/s11689-024-09538-9Test

الإتاحة: https://doi.org/10.1186/s11689-024-09538-9Test
https://hdl.handle.net/11562/1125551Test

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

العلاقة: 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/11573/1707159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188475525

الإتاحة: https://doi.org/10.1002/jimd.12723Test
https://hdl.handle.net/11573/1707159Test

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

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108363Test
https://api.elsevier.com/content/article/PII:S1096719224002488?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224002488?httpAccept=text/plainTest

المؤلفون: García Cazorla, Àngels

المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva

مرشدي الرسالة: 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

الوصول الحر: http://www.tdx.cat/TDX-1005107-165623Test
http://hdl.handle.net/10803/4631Test

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

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC/H2020/871124; Publisher's version; https://doi.org/10.1172/JCI162957Test; Sí; Journal of Clinical Investigation 133 (10) e162957 (2023); http://hdl.handle.net/10261/310089Test

الإتاحة: https://doi.org/10.1172/JCI162957Test
http://hdl.handle.net/10261/310089Test

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

العلاقة: https://www.zora.uzh.ch/id/eprint/253036/1/ZORA_253036.pdfTest; https://www.zora.uzh.ch/id/eprint/253036/2/ZORA_253036_Corrigendum.pdfTest; info:pmid/37348148; urn:issn:1096-7192

الإتاحة: https://doi.org/10.5167/uzh-25303610.1016/j.ymgme.2023.107624Test
https://www.zora.uzh.ch/id/eprint/253036Test/
https://www.zora.uzh.ch/id/eprint/253036/1/ZORA_253036.pdfTest
https://www.zora.uzh.ch/id/eprint/253036/2/ZORA_253036_Corrigendum.pdfTest

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 , ....

العلاقة: https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107647Test
https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/1983/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
http://www.scopus.com/inward/record.url?scp=85165039598&partnerID=8YFLogxKTest

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

العلاقة: Reproducció del document publicat a: https://doi.org/10.1186/s13073-023-01214-2Test; Genome Medicine, 2023, vol. 15, num. 1; https://doi.org/10.1186/s13073-023-01214-2Test; http://hdl.handle.net/2445/205800Test

الإتاحة: https://doi.org/10.1186/s13073-023-01214-2Test
http://hdl.handle.net/2445/205800Test

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

العلاقة: Reproducció del document publicat a: https://doi.org/10.15252/emmm.202215847Test; EMBO Molecular Medicine, 2023, vol. 15, num. 3, p. e15847; https://doi.org/10.15252/emmm.202215847Test; http://hdl.handle.net/2445/198344Test

الإتاحة: https://doi.org/10.15252/emmm.202215847Test
http://hdl.handle.net/2445/198344Test