Search Results - Irene A. Aligianis

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  1. 1
    Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

    Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2) by Irene A. Aligianis

    Published 2002
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  2. 2
    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation by Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, D.J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David Fitzpatrick

    Published 2015
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  3. 3
    Rab18 and a Rab18 GEF complex are required for normal ER structure

    Rab18 and a Rab18 GEF complex are required for normal ER structure by Andreas Gerondopoulos, Ricardo Bastos, Shin‐ichiro Yoshimura, Rachel Anderson, Sarah M. Carpanini, Irene A. Aligianis, Mark T. Handley, Francis A. Barr

    Published 2014
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  4. 4
    Progressive Cone Dystrophy Associated with Mutation in<i>CNGB3</i>

    Progressive Cone Dystrophy Associated with Mutation in<i>CNGB3</i> by Michel Michaelides, Irene A. Aligianis, John R. Ainsworth, Peter Good, J. D. Mollon, Eamonn R. Maher, Anthony T. Moore, David M. Hunt

    Published 2004
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  5. 5
    Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

    Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome by Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. M. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher

    Published 2006
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  6. 6
    A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

    A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton by Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley, Harris Morrison, David G. Brownstein, Thomas M. Wishart, Michael A. Cousin, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson

    Published 2014
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  7. 7
    Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

    Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome by Neil V. Morgan, Louise Brueton, P. Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamás Marton, Lihadh Al‐Gazali, Jenny E.V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

    Published 2006
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  8. 8
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Published 2013
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  9. 9
    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome by Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, F. F. Bond, Manju A. Kurian, Fatima Rahman, Mark T. Handley, Yavor Hadzhiev, Imran Masood, Ania Straatman‐Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz Pasha, Gail Kirby, Katharine Foster, Zubair Ahmed, Jenny E.V. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Bürglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

    Published 2011
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  10. 10
    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins by Emma A. Hall, Michael S. Nahorski, Lyndsay M. Murray, Ranad Shaheen, Emma Perkins, Kosala N. Dissanayake, Yosua Kristaryanto, Ross A. Jones, Julie Vogt, Manon Rivagorda, Mark T. Handley, Girish R. Mali, Tooba Quidwai, Dinesh C. Soares, Margaret Keighren, Lisa McKie, Richard L. Mort, Noor Gammoh, Amaya García-Muñoz, Tracey Davey, Matthieu Vermeren, Diana Chapman Walsh, Peter S. Budd, Irene A. Aligianis, Eissa Faqeih, Alan J. Quigley, Ian J. Jackson, Yogesh Kulathu, M. T. Jackson, Richard R. Ribchester, Alex von Kriegsheim, Fowzan S. Alkuraya, C. Geoffrey Woods, Eamonn R. Maher, Pleasantine Mill

    Published 2017
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