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: Musokhranova, Uliana, Grau, Cristina, Vergara, Cristina, Rodríguez-Pascau, Laura, Xiol, Clara, Castells, Alba A, Alcántara, Soledad, Rodríguez-Pombo, Pilar, Pizcueta, Pilar, Martinell, Marc, García-Cazorla, Angels, Oyarzábal, Alfonso

المساهمون: Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), Generalitat de Catalunya, Mi Princesa Rett

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-115748RB-I00/ES/MODELADO DEL CONTROL AMBIENTAL DE LA DIFERENCIACION DE LOS PROGENITORES NEURALES: UN PUNTO DE ENCUENTRO ENTRE LOS TRASTORNOS DEL DESARROLLO Y LA REGENERACION NEURAL/; info:eu-repo/grantAgreement/Generalitat de Catalunya “PIF-Salut” Grant PFP00201-PERIS (UM, AGC, AO); info:eu-repo/grantAgreement/Princesa Rett and Rettando al Síndrome de Rett donations (AGC, AO, UM, CG, CX); Publisher's version; http://dx.doi.org/10.1186/s12967-023-04622-5Test; Sí; Journal of Translational Medicine 21 (2023); http://hdl.handle.net/10261/357526Test; http://dx.doi.org/10.13039/501100011033Test; http://dx.doi.org/10.13039/501100002809Test; http://dx.doi.org/10.13039/501100004837Test

الإتاحة: https://doi.org/10.1186/s12967-023-04622-510.13039/50110001103310.13039/50110000280910.13039/501100004837Test
http://hdl.handle.net/10261/357526Test

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: 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

العلاقة: https://doi.org/10.1136/jmg-2022-109132Test; Journal of Medical Genetics. 2023 May 16:jmg-2022-109132.; https://uvadoc.uva.es/handle/10324/64655Test; 965; 10; 973; Journal of Medical Genetics; 60

الإتاحة: https://doi.org/10.1136/jmg-2022-109132Test
https://uvadoc.uva.es/handle/10324/64655Test

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