المؤلفون: Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de Las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael

مصطلحات موضوعية: Adolescent, Adult, Biogenic Amines, Biomarkers, Child, Preschool, Female, Humans, Male, Melatonin, Metabolic Networks and Pathways, Metabolism, Inborn Errors, Middle Aged, Reference Values, Serotonin, Young Adult

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/11779Test; PMC5676966; https://www.nature.com/articles/s41598-017-15063-8.pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676966/pdfTest

الإتاحة: https://doi.org/10.1038/s41598-017-15063-8Test
http://hdl.handle.net/10668/11779Test
https://www.nature.com/articles/s41598-017-15063-8.pdfTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676966/pdfTest

المؤلفون: Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L, Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra BT, Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García-Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A, Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez-Mallebrera, Cecilia, Taylor, Robert W, Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C, Roos, Andreas, Horvath, Rita

مصطلحات موضوعية: TANGO2, fatty acid metabolism, metabolic encephalomyopathy, mitochondrial dysfunction, proteomic analysis, rhabdomyolysis, Brain Diseases, Metabolic, Fatty Acids, Female, Golgi Apparatus, Homozygote, Humans, Infant, Male, Mitochondrial Diseases, Muscle Weakness, Mutation, Oxidative Phosphorylation, Phenotype, Proteomics, Whole Genome Sequencing

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/295234Test

الإتاحة: https://doi.org/10.17863/CAM.42293Test
https://www.repository.cam.ac.uk/handle/1810/295234Test

المؤلفون: Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F, Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A, Barroso, Bruno, Baxter, Peter, Benko, Willam S, Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M, Blau, Nenad, Bonthron, David T, Briggs, Tracy, Brueton, Louise A, Brunner, Han G, Burke, Christopher J, Carr, Ian M, Carvalho, Daniel R, Chandler, Kate E, Christen, Hans-Jurgen, Corry, Peter C, Cowan, Frances M, Cox, Helen, D'Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Dery, Catherine, Ferrie, Colin D, Flintoff, Kim, Frints, Suzanna G M, Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutieres, Francoise, Green, Andrew J, Guet, Agnes, Hamel, Ben C J, Hayward, Bruce E, Heiberg, Arvid, Hennekam, Raoul C, Husson, Marie, Jackson, Andrew P, Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G, Kao, Amy, King, Mary D, Kingston, Helen M, Klepper, Joerg, van der Knaap, Marjo S, Kornberg, Andrew J, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J, Livingston, John H, Lourenco, Charles M, Lyall, E G Hermione, Lynch, Sally A, Lyons, Michael J, Marom, Daphna, McClure, John P, McWilliam, Robert, Melancon, Serge B, Mewasingh, Leena D, Moutard, Marie-Laure, Nischal, Ken K, Ostergaard, John R, Prendiville, Julie, Rasmussen, Magnhild, Rogers, R Curtis, Roland, Dominique, Rosser, Elisabeth M, Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Burgi, Sabine, Seal, Sunita, Shalev, Stavit A, Corcoles, C Sierra, Sinha, Gyan P, Soler, Doriette, Spiegel, Ronen, Stephenson, John B P, Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L, Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N A, Van der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S H, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L, Willemsen, Michel A A, Zankl, Andreas, Zuberi, Sameer M, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J, Østergaard, John R., Tiong, Yang Tan

المصدر: Rice , G , Patrick , T , Parmar , R , Taylor , C F , Aeby , A , Aicardi , J , Artuch , R , Montalto , S A , Bacino , C A , Barroso , B , Baxter , P , Benko , W S , Bergmann , C , Bertini , E , Biancheri , R , Blair , E M , Blau , N , Bonthron , D T , Briggs , T , Brueton , L A , Brunner , H G , Burke , C J , Carr , ....

مصطلحات موضوعية: Adolescent, Adult, cerebrospinal fluid: Basal Ganglia Diseases, pathology: Brain, genetics: Calcinosis, genetics: Chilblains, Child, Preschool, DNA Mutational Analysis, genetics: Exodeoxyribonucleases, Female, Humans, Infant, Newborn, cerebrospinal fluid: Lymphocytosis, Male, Molecular Sequence Data, Mutation, Phenotype, genetics: Phosphoproteins, genetics: Ribonuclease H, Syndrome

الإتاحة: https://doi.org/10.1086/521373Test
https://research.manchester.ac.uk/en/publications/3c4306cc-901f-4fae-a856-9b029b9f87d7Test

المؤلفون: Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F, Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A, Barroso, Bruno, Baxter, Peter, Benko, Willam S, Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M, Blau, Nenad, Bonthron, David T, Briggs, Tracy, Brueton, Louise A, Brunner, Han G, Burke, Christopher J, Carr, Ian M, Carvalho, Daniel R, Chandler, Kate E, Christen, Hans-Jurgen, Corry, Peter C, Cowan, Frances M, Cox, Helen, D'Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Dery, Catherine, Ferrie, Colin D, Flintoff, Kim, Frints, Suzanna G M, Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutieres, Francoise, Green, Andrew J, Guet, Agnes, Hamel, Ben C J, Hayward, Bruce E, Heiberg, Arvid, Hennekam, Raoul C, Husson, Marie, Jackson, Andrew P, Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G, Kao, Amy, King, Mary D, Kingston, Helen M, Klepper, Joerg, van der Knaap, Marjo S, Kornberg, Andrew J, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J, Livingston, John H, Lourenco, Charles M, Lyall, E G Hermione, Lynch, Sally A, Lyons, Michael J, Marom, Daphna, McClure, John P, McWilliam, Robert, Melancon, Serge B, Mewasingh, Leena D, Moutard, Marie-Laure, Nischal, Ken K, Østergaard, John Rosendahl, Prendiville, Julie, Rasmussen, Magnhild, Rogers, R Curtis, Roland, Dominique, Rosser, Elisabeth M, Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Burgi, Sabine, Seal, Sunita, Shalev, Stavit A, Corcoles, C Sierra, Sinha, Gyan P, Soler, Doriette, Spiegel, Ronen, Stephenson, John B P, Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L, Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N A, Van der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S H, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L, Willemsen, Michel A A, Zankl, Andreas, Zuberi, Sameer M, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J

المصدر: Rice , G , Patrick , T , Parmar , R , Taylor , C F , Aeby , A , Aicardi , J , Artuch , R , Montalto , S A , Bacino , C A , Barroso , B , Baxter , P , Benko , W S , Bergmann , C , Bertini , E , Biancheri , R , Blair , E M , Blau , N , Bonthron , D T , Briggs , T , Brueton , L A , Brunner , H G , Burke , C J , Carr , ....

مصطلحات موضوعية: Adolescent, Adult, Basal Ganglia Diseases, Brain, Calcinosis, Chilblains, Child, Preschool, DNA Mutational Analysis, Exodeoxyribonucleases, Female, Humans, Infant, Newborn, Lymphocytosis, Male, Molecular Sequence Data, Mutation, Phenotype, Phosphoproteins, Ribonuclease H, Syndrome

الإتاحة: https://doi.org/10.1086/521373Test
https://pure.au.dk/portal/da/publications/clinical-and-molecular-phenotype-of-aicardigoutieres-syndromeTest(f127aad0-e444-11dc-9afb-000ea68e967b).html