Works by Pyle, Angela

Results: 101
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    Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

    Published in:
    Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508
    By:
    • Beetz, Christian;
    • Zuchner, Stephan;
    • Ashley-Koch, Allison;
    • Auer-Grumbach, Michaela;
    • Byrne, Paula;
    • Chinnery, Patrick F.;
    • Hutchinson, Michael;
    • McDermott, Christopher J.;
    • Meijer, Inge A.;
    • Nygren, Anders O.H.;
    • Pericak-Vance, Margaret;
    • Pyle, Angela;
    • Rouleau, Guy A.;
    • Schickel, Jörg;
    • Shaw, Pamela J.;
    • Deufel, Thomas
    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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    A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

    Published in:
    Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
    By:
    • Horvath, Rita;
    • Holinski-Feder, Elke;
    • Neeve, Vivienne C.M.;
    • Pyle, Angela;
    • Griffin, Helen;
    • Ashok, Deephthi;
    • Foley, Charlotte;
    • Hudson, Gavin;
    • Rautenstrauss PhD, Bernd;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Kortler, Jörg;
    • Neitzel, Birgit;
    • Bäßmann, Ingelore;
    • Rahman, Thahira;
    • Keavney, Bernard;
    • Loughlin, John;
    • Hambleton, Sophie;
    • Schoser, Benedikt;
    • Lochmüller, Hanns
    Publication type:
    Article
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    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

    Published in:
    EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
    By:
    • Hathazi, Denisa;
    • Griffin, Helen;
    • Jennings, Matthew J;
    • Giunta, Michele;
    • Powell, Christopher;
    • Pearce, Sarah F;
    • Munro, Benjamin;
    • Wei, Wei;
    • Boczonadi, Veronika;
    • Poulton, Joanna;
    • Pyle, Angela;
    • Calabrese, Claudia;
    • Gomez‐Duran, Aurora;
    • Schara, Ulrike;
    • Pitceathly, Robert D S;
    • Hanna, Michael G;
    • Joost, Kairit;
    • Cotta, Ana;
    • Paim, Julia Filardi;
    • Navarro, Monica Machado
    Publication type:
    Article
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    Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002
    By:
    • Schober, Florian A;
    • Tang, Jia Xin;
    • Sergeant, Kate;
    • Moedas, Marco F;
    • Zierz, Charlotte M;
    • Moore, David;
    • Smith, Conrad;
    • Lewis, David;
    • Guha, Nishan;
    • Hopton, Sila;
    • Falkous, Gavin;
    • Lam, Amanda;
    • Pyle, Angela;
    • Poulton, Joanna;
    • Gorman, Gráinne S;
    • Taylor, Robert W;
    • Freyer, Christoph;
    • Wredenberg, Anna
    Publication type:
    Article
    20

    Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294
    By:
    • Sommerville, Ewen W;
    • Zhou, Xiao-Long;
    • Oláhová, Monika;
    • Jenkins, Janda;
    • Euro, Liliya;
    • Konovalova, Svetlana;
    • Hilander, Taru;
    • Pyle, Angela;
    • He, Langping;
    • Habeebu, Sultan;
    • Saunders, Carol;
    • Kelsey, Anna;
    • Morris, Andrew A M;
    • McFarland, Robert;
    • Suomalainen, Anu;
    • Gorman, Gráinne S;
    • Wang, En-Duo;
    • Thiffault, Isabelle;
    • Tyynismaa, Henna;
    • Taylor, Robert W
    Publication type:
    Article
    21

    Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 10, p. 1743, doi. 10.1093/hmg/ddy080
    By:
    • Peter, Bradley;
    • Waddington, Christie L.;
    • 2, Monika Oláhová;
    • Sommerville, Ewen W.;
    • Hopton, Sila;
    • Pyle, Angela;
    • Champion, Michael;
    • Ohlson, Monica;
    • Siibak, Triinu;
    • Chrzanowska-Lightowlers, Zofia M. A.;
    • Taylor, Robert W.;
    • Falkenberg, Maria;
    • Lightowlers, Robert N.
    Publication type:
    Article
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    A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 7, p. 1186, doi. 10.1093/hmg/ddy033
    By:
    • Bartsakoulia, Marina;
    • Pyle, Angela;
    • Troncoso-Chandía, Diego;
    • Vial-Brizzi, Josefa;
    • Paz-Fiblas, Marysol V.;
    • Duff, Jennifer;
    • Griffin, Helen;
    • Boczonadi, Veronika;
    • Lochmüller, Hanns;
    • Kleinle, Stephanie;
    • Chinnery, Patrick F.;
    • Grünert, Sarah;
    • Kirschner, Janbernd;
    • Eisner, Verónica;
    • Horvath, Rita
    Publication type:
    Article
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    Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 1031, doi. 10.1093/hmg/ddv626
    By:
    • Wilson, Ian J.;
    • Carling, Phillipa J.;
    • Alston, Charlotte L.;
    • Floros, Vasileios I.;
    • Pyle, Angela;
    • Hudson, Gavin;
    • Sallevelt, Suzanne C. E. H.;
    • Lamperti, Costanza;
    • Carelli, Valerio;
    • Bindoff, Laurence A.;
    • Samuels, David C.;
    • Wonnapinij, Passorn;
    • Zeviani, Massimo;
    • Taylor, Robert W.;
    • Smeets, Hubert J. M.;
    • Horvath, Rita;
    • Chinnery, Patrick F.
    Publication type:
    Article
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    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies.

    Published in:
    JAMA: Journal of the American Medical Association, 2014, v. 312, n. 1, p. 68, doi. 10.1001/jama.2014.7184
    By:
    • Taylor, Robert W.;
    • Pyle, Angela;
    • Griffin, Helen;
    • Blakely, Emma L.;
    • Duff, Jennifer;
    • Langping He;
    • Smertenko, Tania;
    • Alston, Charlotte L.;
    • Neeve, Vivienne C.;
    • Best, Andrew;
    • Yarham, John W.;
    • Kirschner, Janbernd;
    • Schara, Ulrike;
    • Talim, Beril;
    • Topaloglu, Haluk;
    • Baric, Ivo;
    • Holinski-Feder, Elke;
    • Abicht, Angela;
    • Czermin, Birgit;
    • Kleinle, Stephanie
    Publication type:
    Article
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    Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63881
    By:
    • Hassaan, Hebatallah M;
    • Pyle, Angela;
    • Almenabawy, Nihal;
    • Robertson, Fiona M;
    • Elkhateeb, Nour;
    • Girgis, Marian Y;
    • Mahmoud, Iman Gamal El Din;
    • Amer, Fawzia;
    • Samaha, Mona;
    • Shaheen, Yara;
    • ElNaggar, Walaa;
    • Abdoh, Doaa;
    • Mehaney, Dina Ahmed;
    • Meguid, Iman Ehsan Abdel;
    • Taylor, Robert W;
    • McFarland, Robert;
    • Selim, Laila
    Publication type:
    Article
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    The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

    Published in:
    2015
    By:
    • Bansagi, Boglarka;
    • Griffin, Helen;
    • Ramesh, Venkateswaran;
    • Duff, Jennifer;
    • Pyle, Angela;
    • Chinnery, Patrick F.;
    • Horvath, Rita;
    • Rossor, Alexander M.;
    • Oates, Emily C.;
    • Salter, Hannah K.;
    • Yang Liu;
    • Murphy, Sinead M.;
    • Schule, Rebecca;
    • Gonzales, Michael A.;
    • Scoto, Mariacristina;
    • Phadke, Rahul;
    • Sewry, Caroline A.;
    • Houlden, Henry;
    • Jordanova, Albena;
    • Tournev, Iyailo
    Publication type:
    Letter
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    Exome sequencing in undiagnosed inherited and sporadic ataxias.

    Published in:
    Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
    By:
    • Pyle, Angela;
    • Smertenko, Tania;
    • Bargiela, David;
    • Griffin, Helen;
    • Duff, Jennifer;
    • Appleton, Marie;
    • Douroudis, Konstantinos;
    • Pfeffer, Gerald;
    • Santibanez-Koref, Mauro;
    • Eglon, Gail;
    • Yu-Wai-Man, Patrick;
    • Ramesh, Venkateswaran;
    • Horvath, Rita;
    • Chinnery, Patrick F.
    Publication type:
    Article
    41

    Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
    By:
    • Pfeffer, Gerald;
    • Gorman, Gráinne S;
    • Griffin, Helen;
    • Kurzawa-Akanbi, Marzena;
    • Blakely, Emma L.;
    • Wilson, Ian;
    • Sitarz, Kamil;
    • Moore, David;
    • Murphy, Julie L.;
    • Alston, Charlotte L.;
    • Pyle, Angela;
    • Coxhead, Jon;
    • Payne, Brendan;
    • Gorrie, George H.;
    • Longman, Cheryl;
    • Hadjivassiliou, Marios;
    • McConville, John;
    • Dick, David;
    • Imam, Ibrahim;
    • Hilton, David
    Publication type:
    Article
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    Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

    Published in:
    2014
    By:
    • Giordano, Carla;
    • Iommarini, Luisa;
    • Giordano, Luca;
    • Maresca, Alessandra;
    • Pisano, Annalinda;
    • Valentino, Maria Lucia;
    • Caporali, Leonardo;
    • Liguori, Rocco;
    • Deceglie, Stefania;
    • Roberti, Marina;
    • Fanelli, Francesca;
    • Fracasso, Flavio;
    • Ross-Cisneros, Fred N;
    • D'Adamo, Pio;
    • Hudson, Gavin;
    • Pyle, Angela;
    • Yu-Wai-Man, Patrick;
    • Chinnery, Patrick F;
    • Zeviani, Massimo;
    • Salomao, Solange R
    Publication type:
    journal article
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    Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343
    By:
    • Giordano, Carla;
    • Iommarini, Luisa;
    • Giordano, Luca;
    • Maresca, Alessandra;
    • Pisano, Annalinda;
    • Valentino, Maria Lucia;
    • Caporali, Leonardo;
    • Liguori, Rocco;
    • Deceglie, Stefania;
    • Roberti, Marina;
    • Fanelli, Francesca;
    • Fracasso, Flavio;
    • Ross-Cisneros, Fred N.;
    • D’Adamo, Pio;
    • Hudson, Gavin;
    • Pyle, Angela;
    • Yu-Wai-Man, Patrick;
    • Chinnery, Patrick F.;
    • Zeviani, Massimo;
    • Salomao, Solange R.
    Publication type:
    Article
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    MFN2 mutations cause compensatory mitochondrial DNA proliferation.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e219, doi. 10.1093/brain/aws049
    By:
    • Sitarz, Kamil S.;
    • Yu-Wai-Man, Patrick;
    • Pyle, Angela;
    • Stewart, Joanna D.;
    • Rautenstrauss, Bernd;
    • Seeman, Pavel;
    • Reilly, Mary M.;
    • Horvath, Rita;
    • Chinnery, Patrick F.
    Publication type:
    Article
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    Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

    Published in:
    Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 183, doi. 10.1093/brain/awq320
    By:
    • Kemp, John P.;
    • Smith, Paul M.;
    • Pyle, Angela;
    • Neeve, Vivienne C. M.;
    • Tuppen, Helen A. L.;
    • Schara, Ulrike;
    • Talim, Beril;
    • Topaloglu, Haluk;
    • Holinski-Feder, Elke;
    • Abicht, Angela;
    • Czermin, Birgit;
    • Lochmüller, Hanns;
    • McFarland, Robert;
    • Chinnery, Patrick F.;
    • Chrzanowska-Lightowlers, Zofia M.A.;
    • Lightowlers, Robert N.;
    • Taylor, Robert W.;
    • Horvath, Rita
    Publication type:
    Article
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    Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

    Published in:
    Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
    By:
    • Horvath, Rita;
    • Kemp, John P.;
    • Tuppen, Helen A. L.;
    • Hudson, Gavin;
    • Oldfors, Anders;
    • Marie, Suely K. N.;
    • Moslemi, Ali-Reza;
    • Servidei, Serenella;
    • Holme, Elisabeth;
    • Shanske, Sara;
    • Kollberg, Gittan;
    • Jayakar, Parul;
    • Pyle, Angela;
    • Marks, Harold M.;
    • Holinski-Feder, Elke;
    • Scavina, Mena;
    • Walter, Maggie C.;
    • Çoku, Jorida;
    • Günther-Scholz, Andrea;
    • Smith, Paul M.
    Publication type:
    Article
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