المؤلفون: Franzka, Patricia, Schüler, Svenja Caren, Kentache, Takfarinas, Storm, Robert, Bock, Andrea, Katona, Istvan, Weis, Joachim, Buder, Katrin, Kaether, Christoph, Hübner, Christian A

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Biomedicines, Vol. 11, no.1, p. 146 [1-22] (2023)

مصطلحات موضوعية: Golgi network, endoplasmic reticulum, mannosylation

العلاقة: boreal:288628; http://hdl.handle.net/2078.1/288628Test; info:pmid/36672654; urn:EISSN:2227-9059

الإتاحة: https://doi.org/10.3390/biomedicines11010146Test
http://hdl.handle.net/2078.1/288628Test

المؤلفون: Franzka, Patricia, Turecki, Gustavo, Cubillos, Susana, Kentache, Takfarinas, Steiner, Johann, Walter, Martin, Hübner, Christian A, Engmann, Olivia

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Frontiers in nutrition, Vol. 9, p. 981511 [1-9] (2022)

مصطلحات موضوعية: depression, glycosylation, mannose, stress, vitamin B12

العلاقة: boreal:277243; http://hdl.handle.net/2078.1/277243Test; info:pmid/36313076; urn:EISSN:2296-861X

الإتاحة: https://doi.org/10.3389/fnut.2022.981511Test
http://hdl.handle.net/2078.1/277243Test

المؤلفون: Franzka, Patricia, Turecki, Gustavo, Cubillos, Susana, Kentache, Takfarinas, Steiner, Johann, Walter, Martin, Hübner, Christian A, Engmann, Olivia

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Frontiers in nutrition, Vol. 9, p. 981511 [1-9] (2022)

مصطلحات موضوعية: depression, glycosylation, mannose, stress, vitamin B12

العلاقة: boreal:277243; http://hdl.handle.net/2078.1/277243Test; info:pmid/36313076; urn:EISSN:2296-861X

الإتاحة: https://doi.org/10.3389/fnut.2022.981511Test
http://hdl.handle.net/2078.1/277243Test

المؤلفون: Franzka, Patricia, Henze, Henriette, Jung, M Juliane, Schüler, Svenja Caren, Mittag, Sonnhild, Biskup, Karina, Liebmann, Lutz, Kentache, Takfarinas, Morales, José, Martínez, Braulio, Katona, Istvan, Herrmann, Tanja, Huebner, Antje-Kathrin, Hennings, J Christopher, Groth, Susann, Gresing, Lennart, Horstkorte, Rüdiger, Marquardt, Thorsten, Weis, Joachim, Kaether, Christoph, Mutchinick, Osvaldo M, Ori, Alessandro, Huber, Otmar, Blanchard, Véronique, von Maltzahn, Julia, Hübner, Christian A

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: The Journal of clinical investigation, Vol. 131, no.9, p. e139076 [1-19] (2021)

مصطلحات موضوعية: Animals, Dystroglycans, Glycosylation, Guanosine Diphosphate Mannose, Humans, Mice, Knockout, Muscle, Skeletal, Neuromuscular Diseases, Nucleotidyltransferases, Genetic diseases, Muscle Biology

العلاقة: boreal:264486; http://hdl.handle.net/2078.1/264486Test; info:pmid/33755596; urn:ISSN:0021-9738; urn:EISSN:1558-8238

الإتاحة: https://doi.org/10.1172/JCI139076Test
http://hdl.handle.net/2078.1/264486Test

المؤلفون: van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, BaÅŸak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricard, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, André G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna, Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-GlavaÄ, Metka, GlavaÄ, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly, Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, De Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter Munch, Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Smith, George Davey, Gaunt, Tom, Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Motor neuron disease, Genome-wide association studies, Neurodegenerative diseases

وصف الملف: application/pdf

العلاقة: Nature genetics; Vol. 53 (december 2021), p. 1636-1648; https://ddd.uab.cat/record/250537Test; urn:10.1038/s41588-021-00973-1; urn:oai:ddd.uab.cat:250537; urn:pmcid:PMC8648564; urn:pmc-uid:8648564; urn:pmid:34873335; urn:articleid:15461718v53p1636; urn:oai:pubmedcentral.nih.gov:8648564

الإتاحة: https://ddd.uab.cat/record/250537Test

المؤلفون: Franzka, Patricia, Henze, Henriette, Jung, M Juliane, Schüler, Svenja Caren, Mittag, Sonnhild, Biskup, Karina, Liebmann, Lutz, Kentache, Takfarinas, Morales, José, Martínez, Braulio, Katona, Istvan, Herrmann, Tanja, Huebner, Antje-Kathrin, Hennings, J Christopher, Groth, Susann, Gresing, Lennart, Horstkorte, Rüdiger, Marquardt, Thorsten, Weis, Joachim, Kaether, Christoph, Mutchinick, Osvaldo M, Ori, Alessandro, Huber, Otmar, Blanchard, Véronique, von Maltzahn, Julia, Hübner, Christian A

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: The Journal of clinical investigation, Vol. 131, no.9, p. e139076 [1-19] (2021)

مصطلحات موضوعية: Animals, Dystroglycans, Glycosylation, Guanosine Diphosphate Mannose, Humans, Mice, Knockout, Muscle, Skeletal, Neuromuscular Diseases, Nucleotidyltransferases, Genetic diseases, Muscle Biology

العلاقة: boreal:264486; http://hdl.handle.net/2078.1/264486Test; info:pmid/33755596; urn:ISSN:0021-9738; urn:EISSN:1558-8238

الإتاحة: https://doi.org/10.1172/JCI139076Test
http://hdl.handle.net/2078.1/264486Test

المؤلفون: van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, BaÅŸak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricard, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, André G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna, Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-GlavaÄ, Metka, GlavaÄ, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly, Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, De Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter Munch, Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Smith, George Davey, Gaunt, Tom, Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Motor neuron disease, Genome-wide association studies, Neurodegenerative diseases

وصف الملف: application/pdf

العلاقة: Nature genetics; Vol. 54 (january 2022), p. 361; https://ddd.uab.cat/record/258922Test; urn:10.1038/s41588-022-01020-3; urn:oai:ddd.uab.cat:258922; urn:pmcid:PMC8920884; urn:pmc-uid:8920884; urn:pmid:35102318; urn:oai:pubmedcentral.nih.gov:8920884; urn:articleid:15461718v54p361

الإتاحة: https://ddd.uab.cat/record/258922Test

المؤلفون: Gold, Wendy A, Sobreira, Nara, Wiame, Elsa, Marbaix, Alexandre, Van Schaftingen, Emile, Franzka, Patricia, Riley, Lisa G, Worgan, Lisa, Hübner, Christian A, Christodoulou, John, Adès, Lesley C

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: American Journal of Medical Genetics. Part A, Vol. 9999, no.0, p. 1-5 (2017)

العلاقة: boreal:185733; http://hdl.handle.net/2078.1/185733Test; info:pmid/28574218; urn:ISSN:1552-4825; urn:EISSN:1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38292Test
http://hdl.handle.net/2078.1/185733Test

المؤلفون: Gold, Wendy A, Sobreira, Nara, Wiame, Elsa, Marbaix, Alexandre, Van Schaftingen, Emile, Franzka, Patricia, Riley, Lisa G, Worgan, Lisa, Hübner, Christian A, Christodoulou, John, Adès, Lesley C

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: American Journal of Medical Genetics. Part A, Vol. 9999, no.0, p. 1-5 (2017)

العلاقة: boreal:185733; http://hdl.handle.net/2078.1/185733Test; info:pmid/28574218; urn:ISSN:1552-4825; urn:EISSN:1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38292Test
http://hdl.handle.net/2078.1/185733Test

المؤلفون: Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J Christopher, Huebner, Antje K, Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A

المساهمون: UCL - SSS/DDUV - Institut de Duve

المصدر: American Journal of Human Genetics, Vol. 93, no.4, p. 727-734 (2013)

العلاقة: boreal:135691; http://hdl.handle.net/2078.1/135691Test; info:pmid/24035193; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.08.002Test
http://hdl.handle.net/2078.1/135691Test