Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
Chen, Qiushi, Müller, Juliane S, Pang, Poh-Choo, Laval, Steve H, Haslam, Stuart M, Lochmüller, Hanns, Dell, Anne
Published in Biomolecules (Basel, Switzerland) (16.10.2015)
Published in Biomolecules (Basel, Switzerland) (16.10.2015)
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Journal Article
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency
Wood, Alasdair J., Müller, Juliane S., Jepson, Catherine D., Laval, Steve H., Lochmüller, Hanns, Bushby, Kate, Barresi, Rita, Straub, Volker
Published in Human molecular genetics (15.12.2011)
Published in Human molecular genetics (15.12.2011)
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Journal Article
Optimization of Internally Deleted Dystrophin Constructs
Reza, Mojgan, Laval, Steve H, Roos, Andreas, Carr, Stephanie, Lochmüller, Hanns
Published in Human gene therapy. Part B. Methods (01.10.2016)
Published in Human gene therapy. Part B. Methods (01.10.2016)
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Journal Article
Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle
Jørgensen, Louise H, Blain, Alison, Greally, Elizabeth, Laval, Steve H, Blamire, Andrew M, Davison, Benjamin J, Brinkmeier, Heinrich, MacGowan, Guy A, Schrøder, Henrik D, Bushby, Kate, Straub, Volker, Lochmüller, Hanns
Published in The American journal of pathology (2011)
Published in The American journal of pathology (2011)
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Journal Article
Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance
Seitan, Vlad C, Banks, Peter, Laval, Steve, Majid, Nazia A, Dorsett, Dale, Rana, Amer, Smith, Jim, Bateman, Alex, Krpic, Sanja, Hostert, Arnd, Rollins, Robert A, Erdjument-Bromage, Hediye, Tempst, Paul, Benard, Claire Y, Hekimi, Siegfried, Newbury, Sarah F, Strachan, Tom
Published in PLoS biology (01.08.2006)
Published in PLoS biology (01.08.2006)
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Journal Article
Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy
Greally, Elizabeth, Davison, Benjamin J, Blain, Alison, Laval, Steve, Blamire, Andrew, Straub, Volker, MacGowan, Guy A
Published in Journal of cardiovascular magnetic resonance (16.01.2013)
Published in Journal of cardiovascular magnetic resonance (16.01.2013)
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Journal Article
Confirmatory Evidence for Linkage of Relative Hand Skill to 2p12-q11
Francks, Clyde, DeLisi, Lynn E., Fisher, Simon E., Laval, Steve H., Rue, Judith E., Stein, John F., Monaco, Anthony P.
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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Journal Article
Neural crest cell-specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects
Smith, Terence Gordon, Laval, Steve, Chen, Fangli, Rock, Matthew James, Strachan, Tom, Peters, Heiko
Published in Genesis (New York, N.Y. : 2000) (01.07.2014)
Published in Genesis (New York, N.Y. : 2000) (01.07.2014)
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Journal Article
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
Klinge, Lars, Laval, Steve, Keers, Sharon, Haldane, Faye, Straub, Volker, Barresi, Rita, Bushby, Kate
Published in The FASEB journal (01.06.2007)
Published in The FASEB journal (01.06.2007)
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Journal Article
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle
Klinge, Lars, Harris, John, Sewry, Caroline, Charlton, Richard, Anderson, Louise, Laval, Steve, Chiu, Yen-Hui, Hornsey, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate
Published in Muscle & nerve (01.02.2010)
Published in Muscle & nerve (01.02.2010)
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Journal Article
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H., Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C., Krause, Sabine, van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A., Brierley, Charlotte, Cooper, Robert G., Cottrell, David A., Davies, Nick P., Gibson, Andrew, Gorman, Gráinne S., Hammans, Simon, Jackson, Andrew P., Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J., Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H., Swingler, Robert, Turner, Chris, Wagner, Kathryn R., Maddison, Paul, Shaw, Pamela J., Straub, Volker, Bushby, Kate, Lochmüller, Hanns
Published in Human mutation (01.08.2013)
Published in Human mutation (01.08.2013)
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Journal Article
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb
Kurapati, Ramakrishna, McKenna, Caoimhe, Lindqvist, Johan, Williams, Debbie, Simon, Michelle, LeProust, Emily, Baker, Jane, Cheeseman, Michael, Carroll, Natalie, Denny, Paul, Laval, Steve, Lochmüller, Hanns, Ochala, Julien, Blanco, Gonzalo
Published in Human molecular genetics (15.04.2012)
Published in Human molecular genetics (15.04.2012)
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Journal Article
Intolerance to β-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy
Bauer, Ralf, Blain, Alison, Greally, Elizabeth, Bushby, Kate, Lochmüller, Hanns, Laval, Steve, Straub, Volker, MacGowan, Guy A.
Published in European journal of heart failure (01.11.2010)
Published in European journal of heart failure (01.11.2010)
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Journal Article
Exon skipping and gene transfer restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations
Dick, Emily, Kalra, Spandan, Anderson, David, George, Vinoj, Ritson, Morten, Laval, Steve, Barresi, Rita, Aartsma-Rus, Annemieke, Lochmuller, Hanns, Denning, Chris
Published in Stem cells and development (21.06.2013)
Published in Stem cells and development (21.06.2013)
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Journal Article
Advance Access published on December 23, 2011 Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC lib
KURAPATI, Ramakrishna, MCKENNA, Caoimhe, LAVAL, Steve, LOCHMÜLLER, Hanns, OCHALA, Julien, BLANCO, Gonzalo, LINDQVIST, Johan, WILLIAMS, Debbie, SIMON, Michelle, LEPROUST, Emily, BAKER, Jane, CHEESEMAN, Michael, CARROLL, Natalie, DENNY, Paul
Published in Human molecular genetics (2012)
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Published in Human molecular genetics (2012)
Journal Article
Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis
Harris, Elizabeth, Laval, Steve, Hudson, Judith, Barresi, Rita, De Waele, Liesbeth, Straub, Volker, Lochmüller, Hanns, Bushby, Kate, Sarkozy, Anna
Published in PLoS currents (21.05.2013)
Published in PLoS currents (21.05.2013)
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