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by Helbig, Ingo and Helbig, Katherine L and Lauerer, Robert J and Bahr, Jacqueline C and Souza, Ivana A and Myers, Candace T and Uysal, Betül and Schwarz, Niklas and Gandini, Maria A and Huang, Sun and Keren, Boris and Mignot, Cyril and Afenjar, Alexandra and Billette de Villemeur, Thierry and Héron, Delphine and Nava, Caroline and Valence, Stéphanie and Buratti, Julien and Fagerberg, Christina R and Soerensen, Kristina P and Kibaek, Maria and Kamsteeg, Erik-Jan and Koolen, David A and Gunning, Boudewijn and Schelhaas, H. Jurgen and Kruer, Michael C and Fox, Jordana and Bakhtiari, Somayeh and Jarrar, Randa and Padilla-Lopez, Sergio and Lindstrom, Kristin and Jin, Sheng Chih and Zeng, Xue and Bilguvar, Kaya and Papavasileiou, Antigone and Xing, Qinghe and Zhu, Changlian and Boysen, Katja and Vairo, Filippo and Lanpher, Brendan C and Klee, Eric W and Tillema, Jan-Mendelt and Payne, Eric T and Cousin, Margot A and Kruisselbrink, Teresa M and Wick, Myra J and Baker, Joshua and Haan, Eric and Smith, Nicholas and Smith, Lacey A and Smith, Edward and Sadeghpour, Azita and Davis, Erica E and Katsanis, Nicholas and Katsanis, Sara and Allori, Alexander and Angrist, Misha and Ashley, Patricia and Bidegain, Margarita and Boyd, Brita and Chambers, Eileen and Cope, Heidi and Cotten, C. Michael and Curington, Theresa and Ellestad, Sarah and Fisher, Kimberley and French, Amanda and Gallentine, William and Goldberg, Ronald and Hill, Kevin and Kansagra, Sujay and Kurtzberg, Joanne and Marcus, Jeffrey and McDonald, Marie and Mikati, Mohammed and Miller, Stephen and Murtha, Amy and Perilla, Yezmin and Pizoli, Carolyn and Purves, Todd and Ross, Sherry and Wiener, John and Corbett, Mark A and MacLennan, Alastair H and Gecz, Jozef and Biskup, Saskia and Goldmann, Eva and Rodan, Lance H and Kichula, Elizabeth and Segal, Eric and Jackson, Kelly E and Asamoah, Alexander and Dimmock, David and McCarrier, Julie and Botto, Lorenzo D and Filloux, Francis and Tvrdik, Tatiana and Cascino, Gregory D and Klingerman, Sherry and Neumann, Catherine and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and Task Force for Neonatal Genomics and Institute of Neuroscience and Physiology and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Institutionen för neurovetenskap och fysiologi
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 666 - 678
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2017, Volume 88, Issue 5, pp. e1 - e1
ObjectivesMyotonic dystrophy is the most prevalent form of muscular dystrophy in adults. Two distinct subtypes exist; myotonic dystrophy type 1 (DM1) and... 
SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0017-5749, 03/2000, Volume 68, Issue 3, p. 385
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 08/2019, Volume 27, Issue 8, pp. 1267 - 1273
We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial... 
MUSCULAR-DYSTROPHY | SKELETAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | CARDIOMYOPATHY | GENETICS & HEREDITY | Heart | Alternative splicing | Splicing | Nonsense mutation | Biopsy | Basal lamina | Electron microscopy | Desmin | Myopathy
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 12/2017, Volume 196, Issue 11, pp. 1456 - 1462
Journal Article
Multiple Sclerosis Journal, ISSN 1352-4585, 2018, pp. 1352458518807088 - 1352458518807088
Fingolimod is used to reduce relapse rates in relapsing-remitting multiple sclerosis (MS). It is a sphingosine 1-phosphate (S1P) analogue having antagonistic... 
human papilloma virus | Fingolimod | malignancy | warts | multiple sclerosis | relapsing/remitting
Journal Article
by Oates, Emily C and Jones, Kristi J and Donkervoort, Sandra and Charlton, Amanda and Brammah, Susan and Smith, John E and Ware, James S and Yau, Kyle S and Swanson, Lindsay C and Whiffin, Nicola and Peduto, Anthony J and Bournazos, Adam and Waddell, Leigh B and Farrar, Michelle A and Sampaio, Hugo A and Teoh, Hooi Ling and Lamont, Phillipa J and Mowat, David and Fitzsimons, Robin B and Corbett, Alastair J and Ryan, Monique M and O'Grady, Gina L and Sandaradura, Sarah A and Ghaoui, Roula and Joshi, Himanshu and Marshall, Jamie L and Nolan, Melinda A and Kaur, Simranpreet and Punetha, Jaya and Töpf, Ana and Harris, Elizabeth and Bakshi, Madhura and Genetti, Casie A and Marttila, Minttu and Werlauff, Ulla and Streichenberger, Nathalie and Pestronk, Alan and Mazanti, Ingrid and Pinner, Jason R and Vuillerot, Carole and Grosmann, Carla and Camacho, Ana and Mohassel, Payam and Leach, Meganne E and Foley, A. Reghan and Bharucha‐Goebel, Diana and Collins, James and Connolly, Anne M and Gilbreath, Heather R and Iannaccone, Susan T and Castro, Diana and Cummings, Beryl B and Webster, Richard I and Lazaro, Leïla and Vissing, John and Coppens, Sandra and Deconinck, Nicolas and Luk, Ho‐Ming and Thomas, Neil H and Foulds, Nicola C and Illingworth, Marjorie A and Ellard, Sian and McLean, Catriona A and Phadke, Rahul and Ravenscroft, Gianina and Witting, Nanna and Hackman, Peter and Richard, Isabelle and Cooper, Sandra T and Kamsteeg, Erik‐Jan and Hoffman, Eric P and Bushby, Kate and Straub, Volker and Udd, Bjarne and Ferreiro, Ana and North, Kathryn N and Clarke, Nigel F and Lek, Monkol and Beggs, Alan H and Bönnemann, Carsten G and MacArthur, Daniel G and Granzier, Henk and Davis, Mark R and Laing, Nigel G
Annals of Neurology, ISSN 0364-5134, 06/2018, Volume 83, Issue 6, pp. 1105 - 1124
Journal Article