检索结果 - Paul Gissen

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  1. 1
    Structural and functional hepatocyte polarity and liver disease

    Structural and functional hepatocyte polarity and liver disease 由 Paul Gissen, Irwin M. Arias

    出版 2015
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  2. 2
    Genetic and laboratory diagnostic approach in Niemann Pick disease type C

    Genetic and laboratory diagnostic approach in Niemann Pick disease type C 由 Kirsten McKay Bounford, Paul Gissen

    出版 2014
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  3. 3
    Liver‐directed gene therapy for inherited metabolic diseases

    Liver‐directed gene therapy for inherited metabolic diseases 由 Julien Baruteau, Nicola Brunetti‐Pierri, Paul Gissen

    出版 2024
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  4. 4
    Using stem cell–derived neurons in drug screening for neurological diseases

    Using stem cell–derived neurons in drug screening for neurological diseases 由 Daniel Little, Robin Ketteler, Paul Gissen, Michael J. Devine

    出版 2019
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  5. 5
    Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects

    Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects 由 Julien Baruteau, Simon N. Waddington, Ian E. Alexander, Paul Gissen

    出版 2017
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  6. 6
    Clinical applications for exosomes: Are we there yet?

    Clinical applications for exosomes: Are we there yet? 由 Dany Perocheau, Loukia Touramanidou, Sonam Gurung, Paul Gissen, Julien Baruteau

    出版 2021
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  7. 7
    Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

    Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease 由 Berna Şeker Yılmaz, Julien Baruteau, Rahimin Affandi Abdul Rahim, Paul Gissen

    出版 2020
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  8. 8
    Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development

    Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development 由 Giulia Massaro, Amy Geard, Wenfei Liu, Oliver Coombe-Tennant, Simon N. Waddington, Julien Baruteau, Paul Gissen, Ahad A. Rahim

    出版 2021
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  9. 9
    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects 由 Julien Baruteau, Carmen Dı́ez-Fernández, Shaul Lerner, Giusy Ranucci, Paul Gissen, Carlo Dionisi‐Vici, Sandesh C.S. Nagamani, Ayelet Erez, Johannes Häberle

    出版 2019
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  10. 10
    Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the <i>VPS33B</i> gene

    Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the <i>VPS33B</i> gene 由 Maria Teresa Vieira Sanseverino, Carolina Fischinger Moura de Souza, Paul Gissen, Anne Orgler Sordi, José Antônio de Azevedo Magalhães, Lavínia Schüler‐Faccini

    出版 2006
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  11. 11
    α-Synuclein binds to the ER–mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP production

    α-Synuclein binds to the ER–mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP production 由 Sébastien Paillusson, Patricia Gómez‐Suaga, Radu Stoica, Daniel Little, Paul Gissen, Michael J. Devine, Wendy Noble, Diane P. Hanger, Christopher C.J. Miller

    出版 2017
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  12. 12
    Fetal gene therapy

    Fetal gene therapy 由 Simon N. Waddington, William H. Peranteau, Ahad A. Rahim, Ashley K. Boyle, Manju A. Kurian, Paul Gissen, Jerry Kok Yen Chan, Anna L. David

    出版 2023
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  13. 13
    Study of Intraventricular Cerliponase Alfa for CLN2 Disease

    Study of Intraventricular Cerliponase Alfa for CLN2 Disease 由 Angela Schulz, Temitayo Ajayi, Nicola Specchio, Emily de los Reyes, Paul Gissen, Douglas Ballon, Jonathan P. Dyke, Heather Cahan, Peter Slasor, David Jacoby, Alfried Kohlschütter

    出版 2018
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  14. 14
    Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

    Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis 由 Michael S. Nahorski, Laurence Seabra, Ania Straatman‐Iwanowska, Aileen Wingenfeld, Anne Reiman, Xiaohong Lü, Jeffrey A. Klomp, Bin Tean Teh, Meçhthild Hatzfeld, Paul Gissen, Eamonn R. Maher

    出版 2012
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  15. 15
    Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

    Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review 由 Marie T. Vanier, Paul Gissen, Peter Bauer, María Josep Coll, Alberto Burlina, Christian J. Hendriksz, Philippe Latour, Cyril Goizet, Richard W.D. Welford, Thorsten Marquardt, Stefan Kolb

    出版 2016
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  16. 16
    A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA

    A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA 由 Daniel Little, Christin Luft, Olukunbi Mosaku, Maëlle Lorvellec, Zhi Yao, Sébastien Paillusson, Janos Kriston‐Vizi, Sonia Gandhi, Andrey Y. Abramov, Robin Ketteler, Michael J. Devine, Paul Gissen

    出版 2018
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  17. 17
    Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

    Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders 由 Vincenzo Leo, Neil V. Morgan, Danai Bem, Matthew L. Jones, Gillian Lowe, Marie Lordkipanidzé, Sian Drake, Michael A. Simpson, Paul Gissen, Andrew Mumford, Steve P. Watson, Mary E. Daly

    出版 2014
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  18. 18
    Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort

    Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort 由 Dany Perocheau, Sharon C. Cunningham, Ju Hee Lee, Juan Antinao Díaz, Simon N. Waddington, Kimberly Gilmour, Simon Eaglestone, Leszek Lisowski, Adrian J. Thrasher, Ian E. Alexander, Paul Gissen, Julien Baruteau

    出版 2018
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  19. 19
    Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

    Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3 由 Luigi Scietti, Antonella Chiapparino, Francesca De Giorgi, Marco Fumagalli, Lela Khoriauli, Solomon G. Nergadze, Shibom Basu, Vincent Oliéric, Lucia Cucca, Blerida Banushi, Antonella Profumo, Elena Giulotto, Paul Gissen, Federico Forneris

    出版 2018
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  20. 20
    Lamin and the heart

    Lamin and the heart 由 Gabriella Captur, Eloisa Arbustini, Gisèle Bonne, Petros Syrris, Kevin Mills, Karim Wahbi, Saidi Mohiddin, William J. McKenna, Stephen Pettit, Carolyn Y. Ho, Antoine Muchir, Paul Gissen, Perry Elliott, James Moon

    出版 2017
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