檢索結果 - Simon Pope

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  1. 1
    Cerebral folate deficiency: Analytical tests and differential diagnosis

    Cerebral folate deficiency: Analytical tests and differential diagnosis 由 Simon Pope, Rafael Artuch, Simon Heales, Shamima Rahman

    出版 2019
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  2. 2
    The large-conductance Ca2+-activated K+ channel is essential for innate immunity

    The large-conductance Ca2+-activated K+ channel is essential for innate immunity 由 Jatinder Ahluwalia, Andrew Tinker, Lucie H. Clapp, Michael R. Duchen, Andrey Y. Abramov, Simon Pope, Muriel Nobles, Anthony W. Segal

    出版 2004
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  3. 3
    Critical role of complex III in the early metabolic changes following myocardial infarction

    Critical role of complex III in the early metabolic changes following myocardial infarction 由 Lisa C. Heather, Carolyn A. Carr, Daniel J. Stuckey, Simon Pope, Karl Morten, E. E. Carter, Lynn Edwards, Kieran Clarke

    出版 2009
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  4. 4
    Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease

    Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease 由 Laura B. Dunn, G Allen, Adamantios Mamais, Helen Ling, Abi Li, Kate Duberley, Iain P. Hargreaves, Simon Pope, Janice L. Holton, Andrew J. Lees, Simon Heales, Rina Bandopadhyay

    出版 2013
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  5. 5
    Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

    Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons 由 Lotta Parviainen, Sybille Dihanich, Greg Anderson, Andrew M.S. Wong, Helen Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon Heales, Hannah M. Mitchison, Brenda Williams, Jonathan D. Cooper

    出版 2017
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  6. 6
    Loss of<i>PLA2G6</i>leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

    Loss of<i>PLA2G6</i>leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction 由 Kerri J. Kinghorn, Jorge Iván Castillo-Quan, Fernando Benito Bartolomé, Plamena R. Angelova, Li Li, Simon Pope, Helena M. Cochemé, Shabana Khan, Shabnam Asghari, Kailash P. Bhatia, John Hardy, Andrey Y. Abramov, Linda Partridge

    出版 2015
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  7. 7
    Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

    Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy 由 Niklas Darín, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A. Husain, Matthew P. Wilson, Basma El Yacoubi, Emma Footitt, W.K. Chong, Louise C. Wilson, Helen Prunty, Simon Pope, Simon Heales, Karine Lascelles, Mike Champion, Evangeline Wassmer, Pierangelo Veggiotti, Valérie de Crécy‐Lagard, Philippa B. Mills, Peter T. Clayton

    出版 2016
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  8. 8
    Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

    Missense dopamine transporter mutations associate with adult parkinsonism and ADHD 由 Freja Herborg, Tina Skjørringe, Saiqa Yasmeen, Natascha V. Arends, Michelle A. Sahai, Kevin Erreger, Thorvald F. Andreassen, Marion Holy, Peter J. Hamilton, Viruna Neergheen, Merete Karlsborg, Amy Hauck Newman, Simon Pope, Simon J.R. Heales, Lars Friberg, Ian Law, Lars H. Pinborg, Harald H. Sitte, Claus J. Løland, Lei Shi, Harel Weinstein, Aurelio Galli, Lena E. Hjermind, Lisbeth Birk Møller, Ulrik Gether

    出版 2014
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  9. 9
    Mitochondrial impairment and rescue in riboflavin responsive neuropathy

    Mitochondrial impairment and rescue in riboflavin responsive neuropathy 由 Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Amelie Pandraud, Vincenzo Salpietro, Simon Pope, Marthe H. R. Ludtmann, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    出版 2017
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  10. 10
    <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp>

    <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp> 由 Joanne Ng, Elisenda Cortès‐Saladelafont, Lucia Abela, Pichet Termsarasab, Kshitij Mankad, Sniya Sudhakar, Kathleen M. Gorman, Simon J.R. Heales, Simon Pope, Lorenzo Biassoni, Barbara Csányi, J. R. Cain, Karl Rakshi, Helen Coutts, Sandeep Jayawant, Rosalind J Jefferson, Deborah Hughes, Àngels García‐Cazorla, Detelina Grozeva, F. Lucy Raymond, Belén Pérez‐Dueñas, Christian de Goede, Toni S. Pearson, Esther Meyer, Manju A. Kurian

    出版 2020
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  11. 11
    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy 由 Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar D. Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    出版 2017
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  12. 12
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies 由 Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann

    出版 2020
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  13. 13
    Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

    Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism 由 Joanne Ng, Serena Barral, Carmen De La Fuente Barrigon, Gabriele Lignani, Fatma A. Erdem, Rebecca L. Wallings, Riccardo Privolizzi, Giada Rossignoli, Haya Alrashidi, Sonja Heasman, Esther Meyer, Adeline Ngoh, Simon Pope, Rajvinder Karda, Dany Perocheau, Julien Baruteau, Natalie Suff, Juan Antinao Díaz, Stéphanie Schorge, Jane Vowles, Lucy Marshall, Sally A. Cowley, Sonja Sučić, Michael Freissmuth, John R. Counsell, Richard Wade‐Martins, Simon Heales, Ahad A. Rahim, Maximilien Bencze, Simon N. Waddington, Manju A. Kurian

    出版 2021
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  14. 14
    <i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

    <i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation 由 Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon, Jana Vandrovcová, M. Natalia Zanetti, Eleni Zamba‐Papanicolaou, Stéphanie Efthymiou, Simon Pope, Maria R. Conte, Giancarlo Abis, Yo‐Tsen Liu, Eloise Tribollet, Nourelhoda A. Haridy, Juan A. Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D. Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre R. Bourque, James E.C. Jepson, Oscar D. Bello, Fion Bremner, Carla Cordivari, Mary M. Reilly, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Simon Heales, Nicholas Wood, James E. Rothman, Kym M. Boycott, Philippa B. Mills, Peter T. Clayton, Henry Houlden

    出版 2019
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