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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances F., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
Enteropathogenic Escherichia coli Type III Effectors EspG and EspG2 Disrupt the Microtubule Network of Intestinal Epithelial Cells
Shaw, Robert K, Smollett, Katherine, Cleary, Jennifer, Garmendia, Junkal, Straatman-Iwanowska, Ania, Frankel, Gad, Knutton, Stuart
Published in Infection and Immunity (01.07.2005)
Published in Infection and Immunity (01.07.2005)
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Journal Article
The enteropathogenic Escherichia coli type III secretion system effector Map binds EBP50/NHERF1: implication for cell signalling and diarrhoea
Simpson, Nandi, Shaw, Rob, Crepin, Valerie F., Mundy, Rosanna, FitzGerald, Anthony J., Cummings, Nicola, Straatman‐Iwanowska, Ania, Connerton, Ian, Knutton, Stuart, Frankel, Gad
Published in Molecular microbiology (01.04.2006)
Published in Molecular microbiology (01.04.2006)
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Journal Article
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances C., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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Journal Article
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Nahorski, Michael S., Seabra, Laurence, Straatman-Iwanowska, Ania, Wingenfeld, Aileen, Reiman, Anne, Lu, Xiaohong, Klomp, Jeff A., Teh, Bin T., Hatzfeld, Mechthild, Gissen, Paul, Maher, Eamonn R.
Published in Human molecular genetics (15.12.2012)
Published in Human molecular genetics (15.12.2012)
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Journal Article
Abstract LB-145: Folliculin interacts with p0071 (Plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Nahorski, Mike S., Seabra, Laurence, Straatman-Iwanowska, Ania, Wingenfeld, Aileen, Reiman, Anne, Lu, Xiaohong, Gissen, Paul, Hatzfeld, Mechthild, Maher, Eamonn
Published in Cancer research (Chicago, Ill.) (15.04.2012)
Published in Cancer research (Chicago, Ill.) (15.04.2012)
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Journal Article
The enteropathogenic Escherichia colt type III secretion system effector Map binds EBP50/NHERF1 : implication for cell signalling and diarrhoea
SIMPSON, Nandi, SHAW, Rob, CREPIN, Valerie F, MUNDY, Rosanna, FITZGERALD, Anthony J, CUMMINGS, Nicola, STRAATMAN -IWANOWSKA, Ania, CONNERTON, Ian, KNUTTON, Stuart, FRANKEL, Gad
Published in Molecular microbiology (2006)
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Published in Molecular microbiology (2006)
Journal Article