ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
CIRAK, Sebahattin, REGHAN FOLEY, Aileen, ROPER, Helen, LONGMAN, Cheryl, KORINTHENBERG, Rudolf, MARROSU, Gianni, NÜRNBERG, Peter, MICHELE, Daniel E, PLAGNOL, Vincent, HURLES, Matt, MOORE, Steven A, SEWRY, Caroline A, HERRMANN, Ralf, CAMPBELL, Kevin P, VOIT, Thomas, MUNTONI, Francesco, WILLER, Tobias, YAU, Shu, STEVENS, Elizabeth, TORELLI, Silvia, BRODD, Lina, KAMYNINA, Alisa, VONDRACEK, Petr
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Development of an L gene real-time reverse-transcription PCR assay for the detection of avian paramyxovirus type 1 RNA in clinical samples
Fuller, Chad M, Brodd, Lina, Irvine, Richard M, Alexander, Dennis J, Aldous, Elizabeth W
Published in Archives of virology (01.06.2010)
Published in Archives of virology (01.06.2010)
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Journal Article
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of [alpha]-Dystroglycan
Stevens, Elizabeth, Carss, Keren J, Cirak, Sebahattin, Foley, A Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E, Yau, Shu, Brodd, Lina, Sewry, Caroline A, Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B, Enns, Gregory M, Manning, Melanie, Krause, Amanda, Salih, Mustafa A, Walsh, Christopher A, Hurles, Matthew, Campbell, Kevin P, Manzini, M Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
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Published in American journal of human genetics (07.03.2013)
Journal Article
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of [alpha]-Dystroglycan
Carss, Keren J, Stevens, Elizabeth, Foley, A Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A, Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G, Abdenur, Jose E, Grosmann, Carla M, Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B, Young, Helen K, Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G, North, Kathryn N, Hoffman, Eric, Stemple, Derek L, Hurles, Matthew E, van Bokhoven, Hans, Campbell, Kevin P, Lefeber, Dirk J, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Get full text
Published in American journal of human genetics (11.07.2013)
Journal Article