المؤلفون: Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothee, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P., van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J., Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Michelakakis, Helen, van Hasselt, Peter M., Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Holmefjord, Katja S. Brocke, Hertecant, Jozef, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude

المساهمون: CNRS, Université de Lille, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

Relation: Human Molecular Genetics; http://hdl.handle.net/20.500.12210/18763

الاتاحة: https://hdl.handle.net/20.500.12210/18763

المؤلفون: Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Rios-Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.

المساهمون: Medicum, Department of Pathology, University of Helsinki, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: X-LINKED MYOPATHY, ENDOPLASMIC-RETICULUM, GOLGI HOMEOSTASIS, VACUOLAR MEMBRANE, CHOLESTEROL, DEFICIENCY, TRANSPORT, ENZYMES, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Cannata Serio , M , Graham , L A , Ashikov , A , Larsen , L E , Raymond , K , Timal , S , Le Meur , G , Ryan , M , Czarnowska , E , Jansen , J C , He , M , Ficicioglu , C , Pichurin , P , Hasadsri , L , Minassian , B , Rugierri , A , Kalimo , H , Rios-Ocampo , W A , Gilissen , C , Rodenburg , R , Jonker , J W , Holleboom , A G , Morava , E , Veltman , J A , Socha , P , Stevens , T H , Simons , M & Lefeber , D J 2020 , ' Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease ' , Hepatology , vol. 72 , no. 6 , pp. 1968-1986 . https://doi.org/10.1002/hep.31218; http://hdl.handle.net/10138/326475; 8579ad66-5d5d-4836-9278-a65069d8e86e; 000601216300007

الاتاحة: http://hdl.handle.net/10138/326475

المؤلفون: Cannata Serio, Magda, Graham, Laurie A, Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C, He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Ríos-Ocampo, W Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W, Holleboom, Adriaan G, Morava, Eva, Veltman, Joris A, Socha, Piotr, Stevens, Tom H, Simons, Matias, Lefeber, Dirk J

المصدر: Cannata Serio , M , Graham , L A , Ashikov , A , Larsen , L E , Raymond , K , Timal , S , Le Meur , G , Ryan , M , Czarnowska , E , Jansen , J C , He , M , Ficicioglu , C , Pichurin , P , Hasadsri , L , Ríos-Ocampo , W A , Gilissen , C , Rodenburg , R , Jonker , J W , Holleboom , A G , Morava , E , Veltman , J A , Socha , P , Stevens , ....

مصطلحات موضوعية: X-LINKED MYOPATHY, ENDOPLASMIC-RETICULUM, GOLGI HOMEOSTASIS, VACUOLAR MEMBRANE, CHOLESTEROL, DEFICIENCY, TRANSPORT, ENZYMES

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/79a50e4d-d50d-4b60-b99d-e864a6084457
https://research.rug.nl/en/publications/79a50e4d-d50d-4b60-b99d-e864a6084457
https://doi.org/10.1002/hep.31218
https://pure.rug.nl/ws/files/156840853/Mutations_in_the_V_ATPase_Assembly_Factor_VMA21_Cause_a_Congenital_Disorder_of_Glycosylation_With_Autophagic_Liver_Disease.pdf

المؤلفون: Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, Gonzalez, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernandez-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia

المصدر: Friederich , M W , Timal , S , Powell , C A , Dallabona , C , Kurolap , A , Palacios-Zambrano , S , Bratkovic , D , Derks , T G J , Bick , D , Bouman , K , Chatfield , K C , Damouny-Naoum , N , Dishop , M K , Falik-Zaccai , T C , Fares , F , Fedida , A , Ferrero , I , Gallagher , R C , Garesse , R , Gilberti , M , Gonzalez , C , Gowan , K , Habib , C ....

مصطلحات موضوعية: TRANSFER-RNA SYNTHETASE, SACCHAROMYCES-CEREVISIAE, GENETIC-VARIATION, LACTIC-ACIDOSIS, HUMAN-DISEASE, IN-VIVO, MUTATIONS, TRANSLATION, ENCEPHALOPATHY, KNOWLEDGEBASE

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/5dbd87c4-186d-4d4b-ba6c-5ff0ee935570
https://research.rug.nl/en/publications/5dbd87c4-186d-4d4b-ba6c-5ff0ee935570
https://doi.org/10.1038/s41467-018-06250-w
https://pure.rug.nl/ws/files/76318782/s41467_018_06250_w.pdf

المؤلفون: Friederich, Marisa W, Timal, Sharita, Powell, Christopher A, Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry GJ, Bick, David, Bouman, Katelijne, Chatfield, Kathryn C, Damouny-Naoum, Nadine, Dishop, Megan K, Falik-Zaccai, Tzipora C, Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C, Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K, Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger JM, Rebelo-Guiomar, Pedro F, Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H, Smeitink, Jan A, Szukszto, Maciej J, Ter Horst, Hendrik J, van den Brandt, Frans, van Spronsen, Francjan J, Veltman, Joris A, Wartchow, Eric, Wintjes, Liesbeth T, Zohar, Yaniv, Fernández-Moreno, Miguel A, Baris, Hagit N, Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J, Van Hove, Johan LK

مصطلحات موضوعية: Amino Acid Sequence, Cardiomyopathies, Female, Fibroblasts, Humans, Infant, Newborn, Lentivirus, Male, Mitochondrial Diseases, Models, Molecular, Mutation, Myocardium, Nitrogenous Group Transferases, Oxidative Phosphorylation, Pedigree, Protein Biosynthesis, Protein Subunits, RNA, Transfer, Saccharomyces cerevisiae

وصف الملف: Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/286571

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/286571
https://doi.org/10.17863/CAM.33881

المؤلفون: Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P, van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude

المساهمون: Netherlands Organisation for Health Research and Development, Natural Sciences and Engineering Research Council of Canada, Brain Canada Foundation, Health Canada, Ministry of Health of Malaysia, European Union Framework Programme for Research and Innovation, MZ CR AZV

المصدر: Human Molecular Genetics ; volume 27, issue 17, page 3029-3045 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddy213
http://academic.oup.com/hmg/article-pdf/27/17/3029/25505663/ddy213.pdf

المؤلفون: Wortmann, Saskia B., Timal, Sharita, Venselaar, Hanka, Wintjes, Liesbeth T., Kopajtich, Robert, Feichtinger, Rene G., Onnekink, Carla, Muhlmeister, Mareike, Brandt, Ulrich, Smeitink, Jan A., Veltman, Joris A., Sperl, Wolfgang, Lefeber, Dirk, Pruijn, Ger, Stojanovic, Vesna, Freisinger, Peter, von Spronsen, Francjan, Derks, Terry G. J., Veenstra-Knol, Hermine E., Mayr, Johannes A., Rotig, Agnes, Tarnopolsky, Mark, Prokisch, Holger, Rodenburg, Richard J.

المصدر: Wortmann , S B , Timal , S , Venselaar , H , Wintjes , L T , Kopajtich , R , Feichtinger , R G , Onnekink , C , Muhlmeister , M , Brandt , U , Smeitink , J A , Veltman , J A , Sperl , W , Lefeber , D , Pruijn , G , Stojanovic , V , Freisinger , P , von Spronsen , F , Derks , T G J , Veenstra-Knol , H E , Mayr , J A , Rotig , A , Tarnopolsky , M , Prokisch ....

مصطلحات موضوعية: COX deficiency, lactic acidosis, liver, mitochondrial disorder, SYNTHETASE, MUTATIONS, DEFICIENCY, LEUKOENCEPHALOPATHY, DIAGNOSIS

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/d18f78c8-1d5b-4e34-8f3e-81e979776366

الاتاحة: https://hdl.handle.net/11370/d18f78c8-1d5b-4e34-8f3e-81e979776366
https://research.rug.nl/en/publications/d18f78c8-1d5b-4e34-8f3e-81e979776366
https://doi.org/10.1002/humu.23340
https://pure.rug.nl/ws/files/50114310/Wortmann_et_al_2017_Human_Mutation.pdf
https://push-zb.helmholtz-muenchen.de/deliver.php?id=19689

المؤلفون: Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothee, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A. W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J, Drenth, Joost P. H., Huynen, Martijn A, Wevers, Ron A., Morava, Eva, Foulquier, Francois, Veltman, Joris A., Lefeber, Dirk J.

المصدر: Jansen , J C , Timal , S , van Scherpenzeel , M , Michelakakis , H , Vicogne , D , Ashikov , A , Moraitou , M , Hoischen , A , Huijben , K , Steenbergen , G , van den Boogert , M A W , Porta , F , Calvo , P L , Mavrikou , M , Cenacchi , G , van den Bogaart , G , Salomon , J , Holleboom , A G , Rodenburg , R J , Drenth , J P H , Huynen , M A , Wevers ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/71278570-7a40-4a86-9abc-3ef56ee55ed5
https://doi.org/10.1016/j.ajhg.2015.12.011

المؤلفون: Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Mueller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.

المصدر: Jansen , E J R , Timal , S , Ryan , M , Ashikov , A , van Scherpenzeel , M , Graham , L A , Mandel , H , Hoischen , A , Iancu , T C , Raymond , K , Steenbergen , G , Gilissen , C , Huijben , K , van Bakel , N H M , Maeda , Y , Rodenburg , R J , Adamowicz , M , Crushell , E , Koenen , H , Adams , D , Vodopiutz , J , Greber-Platzer , S , Mueller , ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/63688485-4f36-45e1-af78-b9987acd3eb2
https://doi.org/10.1038/ncomms11600

المؤلفون: Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Perez, Belen, Vicogne, Dorothee, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Perez-Cerda, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A. W., Holleboom, Adriaan G., Nassogne, Marie-Cecile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P. H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, Francois, Marquardt, Thorsten, Lefeber, Dirk J.

المصدر: Jansen , J C , Cirak , S , van Scherpenzeel , M , Timal , S , Reunert , J , Rust , S , Perez , B , Vicogne , D , Krawitz , P , Wada , Y , Ashikov , A , Perez-Cerda , C , Medrano , C , Arnoldy , A , Hoischen , A , Huijben , K , Steenbergen , G , Quelhas , D , Diogo , L , Rymen , D , Jaeken , J , Guffon , N , Cheillan , D , van den Heuvel , L ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/5e16210e-7d6c-4008-a101-fb305a6fbd08
https://doi.org/10.1016/j.ajhg.2015.12.010

المؤلفون: Van Scherpenzeel, Monique, Timal, Sharita, Rymen, Daisy, Hoischen, Alexander, Wuhrer, Manfred, Hipgrave-Ederveen, Agnes, Grunewald, Stephanie, Peanne, Romain, Saada, Ann, Edvardson, Shimon, Grønborg, Sabine, Ruijter, George, Kattentidt-Mouravieva, Anna, Brum, Jaime Moritz, Freckmann, Mary-Louise, Tomkins, Susan, Jalan, Anil, Prochazkova, Dagmar, Ondruskova, Nina, Hansikova, Hana, Willemsen, Michel A., Hensbergen, Paul J., Matthijs, Gert, Wevers, Ron A., Veltman, Joris A., Morava, Eva, Lefeber, Dirk J.

المصدر: Brain ; volume 137, issue 4, page 1030-1038 ; ISSN 1460-2156 0006-8950

الاتاحة: https://doi.org/10.1093/brain/awu019
http://academic.oup.com/brain/article-pdf/137/4/1030/13799365/awu019.pdf

المؤلفون: Timal, Sharita, Hoischen, Alexander, Lehle, Ludwig, Adamowicz, Maciej, Huijben, Karin, Sykut-Cegielska, Jolanta, Paprocka, Justyna, Jamroz, Ewa, van Spronsen, Francjan J., Körner, Christian, Gilissen, Christian, Rodenburg, Richard J., Eidhof, Ilse, Van den Heuvel, Lambert, Thiel, Christian, Wevers, Ron A., Morava, Eva, Veltman, Joris, Lefeber, Dirk J.

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/dds123v3; http://dx.doi.org/10.1093/hmg/dds123

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/dds123v3
https://doi.org/10.1093/hmg/dds123

المؤلفون: Climer, Leslie, Morelle, Willy, De Bettignies, Geoffroy, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent, Lebredonchel, Elodie, Garat, Anne, Legrand, Dominique, Decool, Valérie, Klein, André, Ouzzine, Mohamed, Gasnier, Bruno, Potelle, Sven, Groux‐Degroote, Sophie, Cogez, Virginie, Noel, Maxence, Portier, Lucie, Solórzano, Carlos, Dall'Olio, Fabio, Steenackers, Agata, Mortuaire, Marlène, Gonzalez‐Pisfil, Mariano, Henry, Mélanie, Heliot, Laurent, Harduin-Lepers, Anne, Berthe, Audrey, Zaffino, Marie, Muller, claire, Houdou, Marine, Schulz, Céline, Bost, Frédéric, De Fay, Elia, Mazerbourg, Sabine, Flament, Stéphane, Mouajjah, Dounia, Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Ondruskova, Nina, Simon, Marleen, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter, van den Bogaart, Geert, van Hijum, Sacha, Rodenburg, Richard, van den Heuvel, Lambertus, Van Spronsen, Francjan, Honzik, Tomas, van Scherpenzeel, Monique, Lefeber, Dirk, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude, Delos, Maxime, Hellec, Charles, Fifre, Alexandre, Carpentier, Mathieu, Papy-Garcia, Dulce, Allain, Fabrice, Denys, Agnés, Gilormini, Pierre André, Lion, Cédric, Vicogne, Dorothée, Guerardel, Yann, Biot, Christophe, Witters, Peter, Breckpot, Jeroen, Preston, Graem, Morava, Eva, Rujano, Maria, Cannata Serio, Magda, Panasyuk, Ganna, Reunert, Janine, Hauser, Virginie, Park, Julien, Freisinger, Peter, Guida, Maria Clara, Maier, Esther, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas, Raskind, Wendy, Schwake, Michael, Duvet, Sandrine, Marquardt, Thorsten, Simons, Matias, Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia, Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, Francois, Gilmore, Reid, Matthijs, Gert

المساهمون: Université Lille Nord de France (COMUE), Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Variabilité génétique des défenses de l'organisme face à son environnement chimique, PRES Université Lille Nord de France-Université de Lille, Droit et Santé, ANR-15-CE14-0001,SOLV_CDG,Décryptage des patients CDG (Congenital Disorders of Glyvosylation) déficients en TMEM165 - de la compréhension des mécanismes moléculaires à une thérapie(2015), ANR-15-RAR3-0004,EURO-CDG-2,A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.(2015), European Project: 643578,H2020,H2020-HCO-2014,E-Rare-3(2014), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF], Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS], Baylor University, University of Arkansas for Medical Sciences [UAMS], Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Key-Obs, JRC Institute for Energy and Transport (IET), European Commission - Joint Research Centre [Petten], Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme Protéomique Necker [SFR Necker] (PPN - 3P5), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Impact de l'environnement chimique sur la santé humaine (IMPECS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Biologie cellulaire et moléculaire de la sécrétion (BCMS), Centre National de la Recherche Scientifique (CNRS), Departamento de Bioquímica, Instituto Nacional de Enfermedades Respiratorias, Department of Experimental, Diagnostic and Specialty Medicine (DIMES) (DIMES), Università di Bologna [Bologna] (UNIBO), Laboratoire de Physique des Lasers, Atomes et Molécules - UMR 8523 (PhLAM), Biophotonique Cellulaire Fonctionelle, Institut de Recherche Interdisciplinaire, Institut de Recherche Interdisciplinaire [Villeneuve d'Ascq] (IRI), Université de Lille, Sciences et Technologies-Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Medicine & Physiology , University of Toronto, First Faculty of Medicine, Charles University [Prague], University Medical Center [Utrecht], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Paediatrics, Beatrix Children's Hospital/University Medical Center Groningen, Université Toulouse 1 Capitole (UT1), Croissance cellulaire, réparation et régénération tissulaires (CRRET), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Chimie Moléculaire et Formulation (EA 4478), Université de Lille, Sciences et Technologies, Unité de Catalyse et de Chimie du Solide - UMR 8181 (UCCS), Université d'Artois (UA)-Ecole Centrale de Lille-Ecole Nationale Supérieure de Chimie de Lille (ENSCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Department of Pediatrics, University Children's Hospital, Centre de recherche Croissance et signalisation (UMR_S 845), Reutlingen University, Department of General Pediatrics, Münster University Children Hospital, Molecular Diagnostics, Center for Human Genetics, Gasthuisberg, Katholieke Universiteit Leuven and Flanders Interuniversity Institute for Biotechnology 4, Leuven, Belgium, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Center for Human Genetics, Laboratory of clinical immunology

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, 214 (12), pp.201817815. ⟨10.1002/jimd.12161⟩

مصطلحات موضوعية: Glycosylation, Protein family, [SDV]Life Sciences [q-bio], Golgi Apparatus, FBS, manganese level, N‐glycosylation defects, TMEM165, Article, Antiporters, Glycomics, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Congenital Disorders of Glycosylation, 0302 clinical medicine, N-linked glycosylation, Genetics, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Cation Transport Proteins, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Manganese, 0303 health sciences, Ion Transport, HEK 293 cells, Serum Albumin, Bovine, Golgi apparatus, Embryonic stem cell, Cell biology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], carbohydrates (lipids), HEK293 Cells, chemistry, symbols, Calcium, 030217 neurology & neurosurgery, Fetal bovine serum

وصف الملف: application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc6c15a6e3ead5ae272f2f6a2e0ad76
https://hal.science/hal-02399421

المؤلفون: Baertling, Fabian, Sánchez-Caballero, Laura, Timal, Sharita, van den Brand, Mariël AM, Ngu, Lock Hock, Distelmaier, Felix, Rodenburg, Richard JT, Nijtmans, Leo GJ

المصدر: Molecular Genetics and Metabolism ; volume 120, issue 3, page 243-246 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2016.12.005
https://api.elsevier.com/content/article/PII:S1096719216303651?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1096719216303651?httpAccept=text/xml

المؤلفون: Genetica, Genetica Klinische Genetica, Cluster C, Metabole ziekten patientenzorg, Child Health, Ashikov, Angel, Bakar, Nurulamin Abu, Wen, Xiao Yan, Niemeijer, Marco, Osorio, Glentino Rodrigues Pinto, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E.H., Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T.A., Van Den Bogaart, Geert, Van Hijum, Sacha A.F.T., Rodenburg, Richard, Van Den Heuvel, Lambertus P., Van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, Van Scherpenzeel, Monique, Lefeber, Dirk J., Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, Van Hasselt, Peter, Van De Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Holmefjord, Katja Brocke, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Naude, Johann Te Water, CDG group

URL: https://doi.org/10.1093/hmg/ddy213
http://hdl.handle.net/1874/373281
https://dspace.library.uu.nl/handle/1874/373281
http://www.scopus.com/inward/record.url?scp=85055447249&partnerID=8YFLogxK
0964-6906
Human Molecular Genetics
27
17
3029
3045

المؤلفون: Medical Research Council (UK), University of Colorado, Fondazione Telethon, Instituto de Salud Carlos III, Federación Española de Enfermedades Raras, Fundação para a Ciência e a Tecnologia (Portugal), Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, Gónzalez, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperma, Tamar, Prujin, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno Jr., Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., Horst, Hendrik J. ter, Brandt, Frans van den, Spronsen, Francjan J. van, Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel Ángel, Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L.K.

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/188632
https://doi.org/10.1038/s41467-018-06250-w
Publisher's version
https://doi.org/10.1038/s41467-018-06250-w
Sí

المؤلفون: Jansen, Eric J. R, Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A, Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C, Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M, Maeda, Yusuke, Rodenburg, Richard J, Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Mueller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M, Wevers, Ron A, Niehues, Tim, Huynen, Martijn A, Veltman, Joris A, Stevens, Tom H, Lefeber, Dirk J

وصف الملف: 2945480 bytes; application/pdf

Relation: Nature Communications vol:7; https://lirias.kuleuven.be/handle/123456789/544389; https://lirias.kuleuven.be/bitstream/123456789/544389/1//ncomms11600.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/544389
https://lirias.kuleuven.be/bitstream/123456789/544389/1//ncomms11600.pdf

المؤلفون: Jansen, Jos C, Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothee, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A. W, Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G, Rodenburg, Richard J, Drenth, Joost P. H, Huynen, Martijn A, Wevers, Ron A, Morava, Eva, Foulquier, Francois, Veltman, Joris A, Lefeber, Dirk J

وصف الملف: 2953683 bytes; application/pdf

Relation: American Journal of Human Genetics vol:98 issue:2 pages:322-330; https://lirias.kuleuven.be/handle/123456789/544367; https://lirias.kuleuven.be/bitstream/123456789/544367/4//1-s2.0-S0002929715005066-main.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/544367
https://lirias.kuleuven.be/bitstream/123456789/544367/4//1-s2.0-S0002929715005066-main.pdf

المؤلفون: Jansen, Jos C, Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P, Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A W, Holleboom, Adriaan G, Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P H, Huynen, Martijn A, Veltman, Joris A, Wevers, Ron A, Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J

وصف الملف: 2262648 bytes; application/pdf

Relation: American Journal of Human Genetics vol:98 issue:2 pages:310-321; https://lirias.kuleuven.be/handle/123456789/529607; https://lirias.kuleuven.be/bitstream/123456789/529607/1//Jansen+AJHG+2016.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/529607
https://lirias.kuleuven.be/bitstream/123456789/529607/1//Jansen+AJHG+2016.pdf

المؤلفون: Tegtmeyer, Laura C, Rust, Stephan, van Scherpenzeel, Monique, Ng, Bobby G, Losfeld, Marie-Estelle, Timal, Sharita, Raymond, Kimiyo, He, Ping, Ichikawa, Mie, Veltman, Joris, Huijben, Karin, Shin, Yoon S, Sharma, Vandana, Adamowicz, Maciej, Lammens, Martin, Reunert, Janine, Witten, Anika, Schrapers, Esther, Matthijs, Gert, Jaeken, Jaak, Rymen, Daisy, Stojkovic, Tanya, Laforêt, Pascal, Petit, François, Aumaître, Olivier, Czarnowska, Elzbieta, Piraud, Monique, Podskarbi, Teodor, Stanley, Charles A, Matalon, Reuben, Burda, Patricie, Seyyedi, Soraya, Debus, Volker, Socha, Piotr, Sykut-Cegielska, Jolanta, van Spronsen, Francjan, de Meirleir, Linda, Vajro, Pietro, DeClue, Terry, Ficicioglu, Can, Wada, Yoshinao, Wevers, Ron A, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, Ralph, Van Schaftingen, Emile, Freeze, Hudson H, Morava, Eva, Lefeber, Dirk J, Marquardt, Thorsten

المساهمون: UCL - SSS/DDUV - Institut de Duve

المصدر: New England Journal of Medicine, Vol. 370, no.6, p. 533-42 (2014)

مصطلحات موضوعية: Galactose, Mutation, Phenotype, Phosphoglucomutase, RNA, Messenger, Genes, Recessive, Glucose, Glucosephosphates, Glycogen Storage Disease, Glycoproteins, Glycosylation, Humans, Male

Relation: boreal:139943; http://hdl.handle.net/2078.1/139943; info:pmid/24499211; urn:ISSN:0028-4793; urn:EISSN:1533-4406

الاتاحة: http://hdl.handle.net/2078.1/139943
https://doi.org/10.1056/NEJMoa1206605