Works by Patrick F. Chinnery

Results: 196
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    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56378-9
    By:
    • Nmezi, Bruce;
    • Rodriguez Bey, Guillermo;
    • Oranburg, Talia DeFrancesco;
    • Dudnyk, Kseniia;
    • Lardo, Santana M.;
    • Herdman, Nathan;
    • Jacko, Anastasia;
    • Rubio, Sandy;
    • Loeza-Alcocer, Emanuel;
    • Kofler, Julia;
    • Kim, Dongkyeong;
    • Rankin, Julia;
    • Kivuva, Emma;
    • Gutowski, Nicholas;
    • Schon, Katherine;
    • van den Ameele, Jelle;
    • Chinnery, Patrick F.;
    • Sousa, Sérgio B.;
    • Palavra, Filipe;
    • Toro, Camilo
    Publication type:
    Article
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    Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

    Published in:
    Movement Disorders, 2012, v. 27, n. 12, p. 1522, doi. 10.1002/mds.25132
    By:
    • Kilarski, Laura L.;
    • Pearson, Justin P.;
    • Newsway, Victoria;
    • Majounie, Elisa;
    • Knipe, M. Duleeka W.;
    • Misbahuddin, Anjum;
    • Chinnery, Patrick F.;
    • Burn, David J.;
    • Clarke, Carl E.;
    • Marion, Marie-Helene;
    • Lewthwaite, Alistair J.;
    • Nicholl, David J.;
    • Wood, Nicholas W.;
    • Morrison, Karen E.;
    • Williams-Gray, Caroline H.;
    • Evans, Jonathan R.;
    • Sawcer, Stephen J.;
    • Barker, Roger A.;
    • Wickremaratchi, Mirdhu M.;
    • Ben-Shlomo, Yoav
    Publication type:
    Article
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    Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

    Published in:
    Movement Disorders, 2012, v. 27, n. 2, p. 312, doi. 10.1002/mds.24029
    By:
    • Winder-Rhodes, Sophie E.;
    • Garcia-Reitböck, Pablo;
    • Ban, Maria;
    • Evans, Jonathan R.;
    • Jacques, Thomas S.;
    • Kemppinen, Anu;
    • Foltynie, Thomas;
    • Williams-Gray, Caroline H.;
    • Chinnery, Patrick F.;
    • Hudson, Gavin;
    • Burn, David J.;
    • Allcock, Liesl M.;
    • Sawcer, Stephen J.;
    • Barker, Roger A.;
    • Spillantini, Maria Grazia
    Publication type:
    Article
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    Spectrum of movement disorders in neuroferritinopathy.

    Published in:
    Movement Disorders, 2005, v. 20, n. 1, p. 95, doi. 10.1002/mds.20284
    By:
    • Crompton, Douglas E.;
    • Chinnery, Patrick F.;
    • Bates, David;
    • Walls, Timothy J.;
    • Jackson, Margaret J.;
    • Curtis, Andrew J.;
    • Burn, John
    Publication type:
    Article
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    Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
    By:
    • Gorman, Gráinne S.;
    • Pfeffer, Gerald;
    • Griffin, Helen;
    • Blakely, Emma L.;
    • Kurzawa-Akanbi, Marzena;
    • Gabriel, Jessica;
    • Sitarz, Kamil;
    • Roberts, Mark;
    • Schoser, Benedikt;
    • Pyle, Angela;
    • Schaefer, Andrew M.;
    • McFarland, Robert;
    • Turnbull, Douglass M.;
    • Horvath, Rita;
    • Chinnery, Patrick F.;
    • Taylor, Robert W.
    Publication type:
    Article
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    Population Screening for Variant Creutzfeldt-Jakob Disease Using a Novel Blood Test.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 4, p. 421, doi. 10.1001/jamaneurol.2013.6001
    By:
    • Jackson, Graham S.;
    • Burk-Rafel, Jesse;
    • Edgeworth, Julie Ann;
    • Sicilia, Anita;
    • Abdilahi, Sabah;
    • Korteweg, Justine;
    • Mackey, Jonathan;
    • Thomas, Claire;
    • Wang, Guosu;
    • Schott, Jonathan M.;
    • Mummery, Catherine;
    • Chinnery, Patrick F.;
    • Mead, Simon;
    • Collinge, John
    Publication type:
    Article
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    Multisystem pathology in McLeod syndrome.

    Published in:
    Neuropathology, 2024, v. 44, n. 2, p. 109, doi. 10.1111/neup.12935
    By:
    • Schon, Katherine R.;
    • O'Donovan, Dominic G.;
    • Briggs, Mayen;
    • Rowe, James B.;
    • Wijesekera, Lokesh;
    • Chinnery, Patrick F.;
    • van den Ameele, Jelle
    Publication type:
    Article
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    Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
    By:
    • Sommerville, Ewen W.;
    • Dalla Rosa, Ilaria;
    • Rosenberg, Masha M.;
    • Bruni, Francesco;
    • Thompson, Kyle;
    • Rocha, Mariana;
    • Blakely, Emma L.;
    • He, Langping;
    • Falkous, Gavin;
    • Schaefer, Andrew M.;
    • Yu‐Wai‐Man, Patrick;
    • Chinnery, Patrick F.;
    • Hedstrom, Lizbeth;
    • Spinazzola, Antonella;
    • Taylor, Robert W.;
    • Gorman, Gráinne S.
    Publication type:
    Article
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    In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
    By:
    • Shatunov, Alexey;
    • Olivé, Montse;
    • Odgerel, Zagaa;
    • Stadelmann-Nessler, Christine;
    • Irlbacher, Kerstin;
    • van Landeghem, Frank;
    • Bayarsaikhan, Munkhuu;
    • Hee-Suk Lee;
    • Goudeau, Bertrand;
    • Chinnery, Patrick F.;
    • Straub, Volker;
    • Hilton-Jones, David;
    • Damian, Maxwell S.;
    • Kaminska, Anna;
    • Vicart, Patrick;
    • Bushby, Kate;
    • Dalakas, Marinos C.;
    • Sambuughin, Nyamkhishig;
    • Ferrer, Isidro;
    • Goebel, Hans H.
    Publication type:
    Article
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    Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.

    Published in:
    Trials, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13063-021-05965-4
    By:
    • Cake, Caroline;
    • Ogburn, Emma;
    • Pinches, Heather;
    • Coleman, Garry;
    • Seymour, David;
    • Woodard, Fran;
    • Manohar, Sinduja;
    • Monsur, Marjia;
    • Landray, Martin;
    • Dalton, Gaynor;
    • Morris, Andrew D.;
    • Chinnery, Patrick F.;
    • Hobbs, F. D. Richard;
    • Butler, Christopher;
    • UK COVID-19 National Core Studies Consortium
    Publication type:
    Article
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    What causes mitochondrial DNA deletions in human cells?

    Published in:
    Nature Genetics, 2008, v. 40, n. 3, p. 275, doi. 10.1038/ng.f.94
    By:
    • Krishnan, Kim J.;
    • Reeve, Amy K.;
    • Samuels, David C.;
    • Chinnery, Patrick F.;
    • Blackwood, John K.;
    • Taylor, Robert W.;
    • Wanrooij, Sjoerd;
    • Spelbrink, Johannes N.;
    • Lightowlers, Robert N.;
    • Turnbull, Doug M.
    Publication type:
    Article
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    Defective i<sup>6</sup>A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004424
    By:
    • Yarham, John W.;
    • Lamichhane, Tek N.;
    • Pyle, Angela;
    • Mattijssen, Sandy;
    • Baruffini, Enrico;
    • Bruni, Francesco;
    • Donnini, Claudia;
    • Vassilev, Alex;
    • He, Langping;
    • Blakely, Emma L.;
    • Griffin, Helen;
    • Santibanez-Koref, Mauro;
    • Bindoff, Laurence A.;
    • Ferrero, Ileana;
    • Chinnery, Patrick F.;
    • McFarland, Robert;
    • Maraia, Richard J.;
    • Taylor, Robert W.
    Publication type:
    Article
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