المؤلفون: Gowda, Vasantha, Atherton, Mark, Murugan, Archana, Servais, Laurent, Sheehan, Jennie, Standing, Emma, Manzur, Adnan, Scoto, Mariacristina, Baranello, Giovanni, Munot, Pinki, McCullagh, Gary, Willis, Tracey, Tirupathi, Sandya, Horrocks, Iain, Dhawan, Anil, Eyre, Michael, Vanegas, Maria, Fernandez-Garcia, Miguel A., Wolfe, Amy, Pinches, Laura, Illingworth, Marjorie, Main, Marion, Abbott, Lianne, Smith, Hayley, Milton, Emily, D’Urso, Sarah, Vijayakumar, Kayal, Marco, Silvia Sanchez, Warner, Sinead, Reading, Emily, Douglas, Isobel, Muntoni, Francesco, Ong, Min, Majumdar, Anirban, Hughes, Imelda, Jungbluth, Heinz, Wraige, Elizabeth

المصدر: In The Lancet Regional Health - Europe February 2024 37

المؤلفون: Ridout, Deborah, Muntoni, Francesco, Manzur, Adnan., Quinlivan, Rosaline, Baranello, Giovanni, Main, Marion, Abbott, Lianne, Burnett, Nicola, Rohwer, Anne-Marie, Milev, Evelin, Wolfe, Adrian, O'Reilly, Emer, Straub, Volker, Guglieri, Michela, Bettolo, Chiara, Muni-Lofra, Robert, James, Meredith, Sodhi, Jassi, Willis, Tracey, Wright, Elizabeth, Rylance, Claire, Birchall, Nicola, Childs, Anne-Marie, Pysden, Karen, Martos-Lozano, Cristina, Pallant, Lindsey, Wadsworth, Steph, Spinty, Stefan, Madhu, Rajesh, Karuvattil, Rajesh, Gregson, Sarah, Clark, Stuart, Wraige, Elizabeth, Jungbluth, Heinz, Gowda, Vasantha, Vanegas, Maria, Sheehan, Ennie, Wolfe, Amy, Schofield, Alex, Hughes, Imelda, McCullagh, Gary, Whitehouse, Emily, Varma, Uma., Warner, Sinead, Reading, Emily, Benson, Lucy., Moustoukas, Jenny, Strachan, Kate, Emery, Nicholas, Ong, Min, Atherton, Mark, Durso, Sarah, White, Kay, Hinde, Neil, Skone, Kate, Sanchez Marco, Silvia, Saxena, Anurag, Gibbon, Frances, TeWaterNaude, Johann, Davis, Hayley, Thompson, Laura, Majumdar, Anirban, Murugan, Archana, Lynch, Mollie, Milton, Emily, Guarino, Iolanda, Tomlinson, Richard, Jarvis, Heather, Berry, Jane, Wills, Lucy, Frimpong-Ansah, Claire, Watson, Jackie, Robertson, Gemma, Cobb, Gavin, Burslem, Julie, Horrocks, Iain, Wong, Jarod, Brunklaus, Andreas, DiMarco, Marina, Brown, Sarah, Mckenzie, Susanne, Torne, Krupa, Mohamed, Rana, Velmurugan, Vel, Prasad, Manish, Sedehizadeh, Saam, Williamson, Sarah, Fenty, Paula, Degoede, Christian, Parkes, Amy, Illingworth, Marjorie, Bhangu, Neeraj, Geary, Michelle, Palmer, Jenni, Shill, Catherine, White, Cathy, Greenfield, Kathryn, Tomos, Heledd, Gates, Sarah, Tirupathi, Sandya, Shah, Ayaz, O'Donoghue, Dara, McVeigh, Janine, McFetridge, Jaci, Nic Fhirleinn, Grainne, Hussain, Nahin, Baskaran, Dhinesh, Lambat, Zubeida, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Moores, Jo, Stephen, Elma, Tewnion, Jane, Ramdas, Sithara, Sa, Mario, Servais, Laurent, Lilien, Charlotte, Ramjattan, Hayley, Taylor, Francesca, English, Hayley, Parasuraman, Deepak, Rabb, Rosanna, McMurchie, Heather, Henzi, Bettina C, Schmidt, Simone, Nagy, Sara, Rubino-Nacht, Daniela, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Amthor, Helge, Deconinck, Nicolas, de Groot, Imelda, Houwen-van Opstal, Saskia, Laugel, Vincent, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Nascimento Osorio, Andrés, Schara-Schmidt, Ulrike, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M, Fischer, Dirk ^*

المصدر: In The Lancet Neurology October 2023 22(10):890-899

المؤلفون: Rea, Gillian, Tirupathi, Sandya, Williams, Jonathan, Clouston, Penny, Morrison, Patrick J.^{Aff1, Aff4}

المصدر: The Cerebellum. 19(1):161-163

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المؤلفون: Klein, Andrea, Pitt, Matthew C., McHugh, John C., Niks, Erik H., Sewry, Caroline A., Phadke, Rahul, Feng, Lucy, Manzur, Adnan Y., Tirupathi, Sandya, DeVile, Catherine, Jayawant, Sandeep, Finlayson, Sarah, Palace, Jacqueline, Muntoni, Francesco, Beeson, David, Robb, Stephanie A.

المصدر: In Neuromuscular Disorders November 2013 23(11):883-891

المؤلفون: McCluskey, Gavin, Lamb, Siobhan, Mason, Sarah, NicFhirleinn, Grainne, Douglas, Isobel, Tirupathi, Sandya, Morrison, Karen E., McConville, John

المصدر: Muscle & Nerve; Feb2023, Vol. 67 Issue 2, p157-161, 5p

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المؤلفون: Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Oezdemir, Oezkan, Daimagueler, Hulya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joel, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schroeder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Dominguez-Gonzalez, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/60741/
https://kups.ub.uni-koeln.de/60741
10.1007/s00401-020-02257-0

المؤلفون: UCL - (SLuc) Centre de référence neuromusculaire, Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias

المصدر: Acta Neuropathologica, Vol. 141, no.3, p. 431-453 (2021)

مصطلحات الفهرس: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/261635

المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève

المصدر: Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , Van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J L , Catsman-Berrevoets , C , Pinto , P S , Tirupathi , S , Strømme , P , De Grauw , T , Gieruszczak-Bialek , D , Krägeloh-Mann , I , Mierzewska , H , Philippi , H , Rankin , J , Atik , T , Banwell , B , Benko , W S , Blaschek , A , Bley , A , Boltshauser , E , Bratkovic , D , Brozova , K , Cimas , I , Clough , C , Corenblum , B , Dinopoulos , A , Dolan , G , Faletra , F , Fernandez , R , Fletcher , J , Garcia Garcia , M E , Gasparini , P , Gburek-Augustat , J , Gonzalez Moron , D , Hamati , A , Harting , I , Hertzberg , C , Hill , A , Hobson , G M , Innes , A M , Kauffman , M , Kirwin , S M , Kluger , G , Kolditz , P , Kotzaeridou , U , La Piana , R , Liston , E , McClintock , W , McEntagart , M , McKenzie , F , Melançon , S , Misbahuddin , A , Suri , M , Monton , F I , Moutton , S , Murphy , R P J , Nickel , M , Onay , H , Orcesi , S , Özklnay , F , Patzer , S , Pedro , H , Pekic , S , Pineda Marfa , M , Pizzino , A , Plecko , B , Poll-The , B T , Popovic , V , Rating , D , Rioux , M F , Rodriguez Espinosa , N , Ronan , A , Ostergaard , J R , Rossignol , E , Sanchez-Carpintero , R , Schossig , A , Senbil , N , Sønderberg Roos , L K , Stevens , C A , Synofzik , M , Sztriha , L , Tibussek , D , Timmann , D , Tonduti , D , Van De Warrenburg , B P , Vázquez-López , M , Venkateswaran , S , Wasling , P , Wassmer , E , Webster , R I , Wiegand , G , Yoon , G , Rotteveel , J , Schiffmann , R , Van Der Knaap , M S , Vanderver , A , Martos-Moreno , G , Polychronakos , C , Wolf , N I & Bernard , G 2021 , ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ' , Journal of Clinical Endocrinology and

مصطلحات الفهرس: dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, article

URL: https://pure.eur.nl/en/publications/2273d648-c851-4822-a02c-dee11887721b