Search Results - Paul Gissen

Refine Results
  1. 1
    Structural and functional hepatocyte polarity and liver disease

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

    Published 2015
    Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Genetic and laboratory diagnostic approach in Niemann Pick disease type C

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

    Published 2014
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Liver‐directed gene therapy for inherited metabolic diseases

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

    Published 2024
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  4. 4
    Using stem cell–derived neurons in drug screening for neurological diseases

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

    Published 2019
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Julien Baruteau, Simon N. Waddington, Ian E. Alexander, Paul Gissen

    Published 2017
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  6. 6
    Clinical applications for exosomes: Are we there yet?

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

    Published 2021
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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 by Berna Şeker Yılmaz, Julien Baruteau, Rahimin Affandi Abdul Rahim, Paul Gissen

    Published 2020
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  8. 8
    Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development

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

    Published 2021
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  9. 9
    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

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

    Published 2019
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Maria Teresa Vieira Sanseverino, Carolina Fischinger Moura de Souza, Paul Gissen, Anne Orgler Sordi, José Antônio de Azevedo Magalhães, Lavínia Schüler‐Faccini

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Sébastien Paillusson, Patricia Gómez‐Suaga, Radu Stoica, Daniel Little, Paul Gissen, Michael J. Devine, Wendy Noble, Diane P. Hanger, Christopher C.J. Miller

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Fetal gene therapy

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

    Published 2023
    Get full text
    Revisão
    Save to List
    Saved in:
  13. 13
    Study of Intraventricular Cerliponase Alfa for CLN2 Disease

    Study of Intraventricular Cerliponase Alfa for CLN2 Disease by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2016
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

    Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3 by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Lamin and the heart

    Lamin and the heart by 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

    Published 2017
    Get full text
    Revisão
    Save to List
    Saved in:

Search Tools: