Works matching AU Pope, Simon


Results: 57
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    Metabolic adaptation to chronic hypoxia in cardiac mitochondria.

    Published in:
    Basic Research in Cardiology, 2012, v. 107, n. 3, p. 1, doi. 10.1007/s00395-012-0268-2
    By:
    • Heather, Lisa;
    • Cole, Mark;
    • Tan, Jun-Jie;
    • Ambrose, Lucy;
    • Pope, Simon;
    • Abd-Jamil, Amira;
    • Carter, Emma;
    • Dodd, Michael;
    • Yeoh, Kar;
    • Schofield, Christopher;
    • Clarke, Kieran
    Publication type:
    Article
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    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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    Low CSF 5-HIAA in Myoclonus Dystonia.

    Published in:
    2017
    By:
    • Peall, Kathryn J.;
    • Ng, Joanne;
    • Dy, Marisela E.;
    • Sharma, Nutan;
    • Pope, Simon;
    • Heales, Simon;
    • Friedman, Jennifer R.;
    • Kurian, Manju A.
    Publication type:
    Letter
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    Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions.

    Published in:
    PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023182
    By:
    • Kasperavičiūtė, Dalia;
    • Catarino, Claudia B.;
    • Chinthapalli, Krishna;
    • Clayton, Lisa M. S.;
    • Thom, Maria;
    • Martinian, Lillian;
    • Cohen, Hannah;
    • Adalat, Shazia;
    • Bockenhauer, Detlef;
    • Pope, Simon A.;
    • Lench, Nicholas;
    • Koltzenburg, Martin;
    • Duncan, John S.;
    • Hammond, Peter;
    • Hennekam, Raoul C. M.;
    • Land, John M.;
    • Sisodiya, Sanjay M.
    Publication type:
    Article
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    Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

    Published in:
    Science Translational Medicine, 2021, v. 13, n. 594, p. 1, doi. 10.1126/scitranslmed.aaw1564
    By:
    • Ng, Joanne;
    • Barral, Serena;
    • De La Fuente Barrigon, Carmen;
    • Lignani, Gabriele;
    • Erdem, Fatma A.;
    • Wallings, Rebecca;
    • Privolizzi, Riccardo;
    • Rossignoli, Giada;
    • Alrashidi, Haya;
    • Heasman, Sonja;
    • Meyer, Esther;
    • Ngoh, Adeline;
    • Pope, Simon;
    • Karda, Rajvinder;
    • Perocheau, Dany;
    • Baruteau, Julien;
    • Suff, Natalie;
    • Antinao Diaz, Juan;
    • Schorge, Stephanie;
    • Vowles, Jane
    Publication type:
    Article
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    Project SunbYte: solar astronomy on a budget.

    Published in:
    Astronomy & Geophysics, 2017, v. 58, n. 2, p. 2.24
    By:
    • Alvarez Gonzalez, Fernando;
    • Badilita, Ana-Maria;
    • Baker, Andrew;
    • Yun-Hang Cho;
    • Dhot, Navtej;
    • Fedun, Viktor;
    • Hare, Chris;
    • Tianyou He;
    • Hobbs, Megan;
    • Javed, Mahed;
    • Livesey, Helena;
    • Lord, Charles;
    • Panoutsos, George;
    • Permyakov, Anton;
    • Pope, Simon;
    • Portnell, Michael;
    • Rhodes, Lauren;
    • Sharma, Rahul;
    • Taras, Petrica;
    • Taylor, Jaye
    Publication type:
    Article
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    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

    Published in:
    2017
    By:
    • Manole, Andreea;
    • Jaunmuktane, Zane;
    • Hargreaves, Iain;
    • Ludtmann, Marthe H. R.;
    • Salpietro, Vincenzo;
    • Bello, Oscar D.;
    • Pope, Simon;
    • Pandraud, Amelie;
    • Horga, Alejandro;
    • Scalco, Renata S.;
    • Abi Li;
    • Ashokkumar, Balasubramaniem;
    • Lourenc, Charles M.;
    • Heales, Simon;
    • Horvath, Rita;
    • Chinnery, Patrick F.;
    • Toro, Camilo;
    • Singleton, Andrew B.;
    • Jacques, Thomas S.;
    • Abramov, Andrey Y.
    Publication type:
    journal article
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    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    Published in:
    2019
    By:
    • Chelban, Viorica;
    • Wilson, Matthew P.;
    • Warman Chardon, Jodi;
    • Vandrovcova, Jana;
    • Zanetti, M. Natalia;
    • Zamba‐Papanicolaou, Eleni;
    • Efthymiou, Stephanie;
    • Pope, Simon;
    • Conte, Maria R.;
    • Abis, Giancarlo;
    • Liu, Yo‐Tsen;
    • Tribollet, Eloise;
    • Haridy, Nourelhoda A.;
    • Botía, Juan A.;
    • Ryten, Mina;
    • Nicolaou, Paschalis;
    • Minaidou, Anna;
    • Christodoulou, Kyproula;
    • Kernohan, Kristin D.;
    • Eaton, Alison
    Publication type:
    journal article
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    Luminescent Pt<sup>II</sup>(bipyridyl)(diacetylide) Chromophores with Pendant Binding Sites as Energy Donors for Sensitised Near-Infrared Emission from Lanthanides: Structures and Photophysics of Pt<sup>II</sup>/Ln<sup>III</sup> Assemblies.

    Published in:
    Chemistry - A European Journal, 2006, v. 12, n. 36, p. 9299, doi. 10.1002/chem.200600698
    By:
    • Ronson, Tanya K.;
    • Lazarides, Theodore;
    • Adams, Harry;
    • Pope, Simon J. A.;
    • Sykes, Daniel;
    • Faulkner, Stephen;
    • Coles, Simon J.;
    • Hursthouse, Michael B.;
    • Clegg, William;
    • Harrington, Ross W.;
    • Ward, Michael D.
    Publication type:
    Article
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    Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3107, doi. 10.1172/JCI73778
    By:
    • Hansen, Freja H.;
    • Skjørringe, Tina;
    • Yasmeen, Saiqa;
    • Arends, Natascha V.;
    • Sahai, Michelle A.;
    • Erreger, Kevin;
    • Andreassen, Thorvald F.;
    • Holy, Marion;
    • Hamilton, Peter J.;
    • Neergheen, Viruna;
    • Karlsborg, Merete;
    • Newman, Amy H.;
    • Pope, Simon;
    • Heales, Simon J. R.;
    • Friberg, Lars;
    • Law, Ian;
    • Pinborg, Lars H.;
    • Sitte, Harald H.;
    • Loland, Claus;
    • Lei Shi
    Publication type:
    Article
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    DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

    Published in:
    2020
    By:
    • Ng, Joanne;
    • Cortès‐Saladelafont, Elisenda;
    • Abela, Lucia;
    • Termsarasab, Pichet;
    • Mankad, Kshitij;
    • Sudhakar, Sniya;
    • Gorman, Kathleen M.;
    • Heales, Simon J.R.;
    • Pope, Simon;
    • Biassoni, Lorenzo;
    • Csányi, Barbara;
    • Cain, John;
    • Rakshi, Karl;
    • Coutts, Helen;
    • Jayawant, Sandeep;
    • Jefferson, Rosalind;
    • Hughes, Deborah;
    • García‐Cazorla, Àngels;
    • Grozeva, Detelina;
    • Raymond, F. Lucy
    Publication type:
    journal article
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    Student & tutor consensus: a partnership in assessment for learning.

    Published in:
    Assessment & Evaluation in Higher Education, 2017, v. 42, n. 6, p. 942, doi. 10.1080/02602938.2016.1211988
    By:
    • Thompson, James;
    • Houston, Don;
    • Dansie, Kathryn;
    • Rayner, Timothy;
    • Pointon, Timothy;
    • Pope, Simon;
    • Cayetano, Anthea;
    • Mitchell, Brad;
    • Grantham, Hugh
    Publication type:
    Article
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