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: 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, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora

المساهمون: Undiagnosed Rare Diseases Program of Catalonia, Research Networking Center on Rare Diseases, Fundación Hesperia, Centre Nacional d’Anàlisi Genòmica, Fundació la Marató de TV3, Association Strümpell-Lorrain / HSP-France, AWS Cloud Credits for Research program, Instituto de Salud Carlos III, European Social Fund, fondo europeo del desarrollo regional, Center for Biomedical Research on Rare Diseases, European Reference Network for Rare Neurological Diseases

المصدر: Genome Medicine ; volume 15, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-023-01214-2Test

المؤلفون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

المساهمون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlo, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Lui, Brusco, Alfredo, Koenig, Michel, Macaya, Alfon, Pujol, Aurora

مصطلحات موضوعية: PI4KA, hypomyelinating leukodystrophy, inborn errors of metabolism, phosphoinositol, spastic paraplegia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34415322; volume:144; issue:9; firstpage:2659; lastpage:2669; numberofpages:11; journal:BRAIN; http://hdl.handle.net/2318/1808626Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119322936

الإتاحة: https://doi.org/10.1093/brain/awab124Test
http://hdl.handle.net/2318/1808626Test

المؤلفون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de La Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’leary, Melanie, O’heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David, Casasnovas, Carlos, Rehm, Heidi, Mefford, Heather, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03327833; https://hal.science/hal-03327833Test; https://hal.science/hal-03327833/documentTest; https://hal.science/hal-03327833/file/2021%20Verdura%20et%20al.,%20Biallelic.pdfTest

الإتاحة: https://doi.org/10.1093/brain/awab124Test
https://hal.science/hal-03327833Test
https://hal.science/hal-03327833/documentTest
https://hal.science/hal-03327833/file/2021%20Verdura%20et%20al.,%20Biallelic.pdfTest

المؤلفون: Verdura, Edgard, Rodríguez Palmero, Agustí, Vélez Santamaría, Valentina, Planas Serra, Laura, Calle, Irene de la, Raspall Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’leary, Melanie, O’heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala Coromina, Júlia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé Grau, Anna, Souza, Precilla de, Adams, David, Casasnovas Pons, Carlos, Rehm, Heidi L., Mefford, Heather C., González Gutiérrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Malalties del sistema nerviós central, Malalties hereditàries, Central nervous system diseases, Genetic disorders

وصف الملف: 11 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1093/brain/awab124Test; Brain, 2021, vol 144, num 9, p. 2659-2669; https://doi.org/10.1093/brain/awab124Test; http://hdl.handle.net/2445/182762Test; 720604

الإتاحة: https://doi.org/10.1093/brain/awab124Test
http://hdl.handle.net/2445/182762Test

المؤلفون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David, Casasnovas, Carlos, Rehm, Heidi, Mefford, Heather, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03327833; https://hal.archives-ouvertes.fr/hal-03327833Test; https://hal.archives-ouvertes.fr/hal-03327833/documentTest; https://hal.archives-ouvertes.fr/hal-03327833/file/2021%20Verdura%20et%20al.,%20Biallelic.pdfTest

الإتاحة: https://doi.org/10.1093/brain/awab124Test
https://hal.archives-ouvertes.fr/hal-03327833Test
https://hal.archives-ouvertes.fr/hal-03327833/documentTest
https://hal.archives-ouvertes.fr/hal-03327833/file/2021%20Verdura%20et%20al.,%20Biallelic.pdfTest

المؤلفون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

المساهمون: Hesperia Foundation, Asociación Española contra las Leucodistrofias, Autonomous Government of Catalonia

المصدر: Brain ; volume 144, issue 9, page 2659-2669 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awab124Test
http://academic.oup.com/brain/article-pdf/144/9/2659/40880202/awab124.pdfTest

المؤلفون: Tort, Frederic, Barredo, Estibaliz, Parthasarathy, Ranjani, Ugarteburu, Olatz, Ferrer-Cortès, Xenia, García-Villoria, Judit, Gort, Laura, González-Quintana, Adrián, Martín, Miguel A, Fernández-Vizarra, Erika, Zeviani, Massimo, Ribes, Antonia

المساهمون: Tort, Frederic, Barredo, Estibaliz, Parthasarathy, Ranjani, Ugarteburu, Olatz, Ferrer-Cortès, Xenia, García-Villoria, Judit, Gort, Laura, González-Quintana, Adrián, Martín, Miguel A, Fernández-Vizarra, Erika, Zeviani, Massimo, Ribes, Antonia

مصطلحات موضوعية: Complex I, Exome, Mitochondrial morphology, NDUFA8, OXPHOS, Supercomplexes

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33153867; info:eu-repo/semantics/altIdentifier/wos/WOS:000599717700008; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11577/3358635Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096373352

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.10.005Test
http://hdl.handle.net/11577/3358635Test

المؤلفون: Tort, Frederic, Barredo, Estibaliz, Parthasarathy, Ranjani, Ugarteburu, Olatz, Ferrer-Cortès, Xenia, García-Villoria, Judit, Gort, Laura, González-Quintana, Adrián, Martín, Miguel A, Fernández-Vizarra, Erika, Zeviani, Massimo, Ribes, Antonia

المساهمون: Tort, Frederic, Barredo, Estibaliz, Parthasarathy, Ranjani, Ugarteburu, Olatz, Ferrer-Cortès, Xenia, García-Villoria, Judit, Gort, Laura, González-Quintana, Adrián, Martín, Miguel A, Fernández-Vizarra, Erika, Zeviani, Massimo, Ribes, Antonia

مصطلحات موضوعية: Complex I, Exome, Mitochondrial morphology, NDUFA8, OXPHOS, Supercomplexe, Child, Female, Fibroblast, Human, Male, Metabolism, Inborn Error, Mitochondria, Mitochondrial Disease, NADH Dehydrogenase, Sibling, Whole Exome Sequencing, Genetic Predisposition to Disease, Oxidative Phosphorylation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33153867; info:eu-repo/semantics/altIdentifier/wos/WOS:000599717700008; volume:131; issue:3; firstpage:349; lastpage:357; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11577/3459277Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096373352

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.10.005Test
http://hdl.handle.net/11577/3459277Test

المؤلفون: Tort, Frederic, Barredo, Estibaliz, Parthasarathy, Ranjani, Ugarteburu, Olatz, Ferrer-Cortès, Xenia, García-Villoria, Judit, Gort, Laura, González-Quintana, Adrián, Martín, Miguel A., Fernández-Vizarra, Erika, Zeviani, Massimo, Ribes, Antonia

المساهمون: Instituto de Salud Carlos III, European Regional Development Fund, Centro de Investigación Biomédica en Red de Enfermedades Raras, Agència de Gestió d'Ajuts Universitaris i de Recerca, CERCA Programme/Generalitat de Catalunya, Departament de Salut, Generalitat de Catalunya

المصدر: Molecular Genetics and Metabolism ; volume 131, issue 3, page 349-357 ; ISSN 1096-7192

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

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.10.005Test
https://api.elsevier.com/content/article/PII:S1096719220302055?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719220302055?httpAccept=text/plainTest