Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Heterogeneity of fibrosis patterns in non-alcoholic fatty liver disease supports the presence of multiple fibrogenic pathways
Skoien, Richard, Richardson, Michelle M., Jonsson, Julie R., Powell, Elizabeth E., Brunt, Elizabeth M., Neuschwander-Tetri, Brent A., Bhathal, Prithi S., Dixon, John B., O'Brien, Paul E., Tilg, Herbert, Moschen, Alexander R., Baumann, Ulrich, Brown, Rachel M., Couper, Richard T., Manton, Nicholas D., Ee, Looi C., Weltman, Martin, Clouston, Andrew D.
Published in Liver international (01.04.2013)
Published in Liver international (01.04.2013)
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A prospective observational study of the effect of critical illness on ultrastructural and microscopic morphology of duodenal mucosa
Liew, Victor Y, Chapman, Marianne J, Nguyen, Nam Q, Cousins, Caroline E, Plummer, Mark P, Chapple, Lee-Anne S, Abdelhamid, Yasmine Ali, Manton, Nicholas D, Swalling, Adam, Sutton-Smith, Peter, Burt, Alastair D, Deane, Adam M
Published in Critical care and resuscitation (01.06.2016)
Published in Critical care and resuscitation (01.06.2016)
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Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
Ravenscroft, Gianina, Thompson, Elizabeth M, Todd, Emily J, Yau, Kyle S, Kresoje, Nina, Sivadorai, Padma, Friend, Kathryn, Riley, Kate, Manton, Nicholas D, Blumbergs, Peter, Fietz, Michael, Duff, Rachael M, Davis, Mark R, Allcock, Richard J, Laing, Nigel G
Published in Neuromuscular disorders : NMD (01.02.2013)
Published in Neuromuscular disorders : NMD (01.02.2013)
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Non-alcoholic steatohepatitis in children and adolescents
Manton, N D, Lipsett, J, Moore, D J, Davidson, G P, Bourne, A J, Couper, R T
Published in Medical journal of Australia (06.11.2000)
Published in Medical journal of Australia (06.11.2000)
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