Works by Christodoulou, John

Results: 171
    1
    2

    Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
    By:
    • Rius, Rocio;
    • Van Bergen, Nicole J.;
    • Compton, Alison G.;
    • Riley, Lisa G.;
    • Kava, Maina P.;
    • Balasubramaniam, Shanti;
    • Amor, David J.;
    • Fanjul-Fernandez, Miriam;
    • Cowley, Mark J.;
    • Fahey, Michael C.;
    • Koenig, Mary K.;
    • Enns, Gregory M.;
    • Sadedin, Simon;
    • Wilson, Meredith J.;
    • Tan, Tiong Y.;
    • Thorburn, David R.;
    • Christodoulou, John
    Publication type:
    Article
    3
    4

    Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing.

    Published in:
    Science Translational Medicine, 2012, v. 4, n. 118, p. 1, doi. 10.1126/scitranslmed.3003310
    By:
    • Calvo, Sarah E.;
    • Compton, Alison G.;
    • Hershman, Steven G.;
    • Sze Chern Lim;
    • Lieber, Daniel S.;
    • Tucker, Elena J.;
    • Laskowski, Adrienne;
    • Garone, Caterina;
    • Shangtao Liu;
    • Jaffe, David B.;
    • Christodoulou, John;
    • Fletcher, Janice M.;
    • Bruno, Damien L.;
    • Goldblatt, Jack;
    • DiMauro, Salvatore;
    • Thorburn, David R.;
    • Mootha, Vamsi K.
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14

    Family satisfaction following spinal fusion in Rett syndrome.

    Published in:
    Developmental Neurorehabilitation, 2016, v. 19, n. 1, p. 31, doi. 10.3109/17518423.2014.898107
    By:
    • Downs, Jenny;
    • Torode, Ian;
    • Ellaway, Carolyn;
    • Jacoby, Peter;
    • Bunting, Catherine;
    • Wong, Kingsley;
    • Christodoulou, John;
    • Leonard, Helen
    Publication type:
    Article
    15
    16
    17
    18
    19
    20
    21
    22

    Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
    By:
    • Morton, Sarah U.;
    • Christodoulou, John;
    • Costain, Gregory;
    • Muntoni, Francesco;
    • Wakeling, Emma;
    • Wojcik, Monica H.;
    • French, Courtney E.;
    • Szuto, Anna;
    • Dowling, James J.;
    • Cohn, Ronald D.;
    • Raymond, F. Lucy;
    • Darras, Basil T.;
    • Williams, David A.;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Rowitch, David H.;
    • Agrawal, Pankaj B.
    Publication type:
    Article
    23
    24
    25
    26
    27
    28
    29

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 3, p. 403, doi. 10.1111/cge.13473
    By:
    • Bisgaard, Anne‐Marie;
    • Schönewolf‐Greulich, Bitten;
    • Jespersgaard, Cathrine;
    • Tümer, Zeynep;
    • Dunø, Morten;
    • Brøndum‐Nielsen, Karen;
    • Rokkjær, Mette;
    • Hansen, Lars K.;
    • Tsoutsou, Eirini;
    • Sofokleous, Christalena;
    • Topcu, Meral;
    • Kaur, Simran;
    • Van Bergen, Nicole J.;
    • Christodoulou, John;
    • Larsen, Martin J.;
    • Sørensen, Kristina P.;
    • Fagerberg, Christina R.
    Publication type:
    Article
    30
    31
    32
    33
    34
    35

    p.R270X MECP2 mutation and mortality in Rett syndrome.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1235, doi. 10.1038/sj.ejhg.5201479
    By:
    • Le Jian;
    • Archer, Hayley L.;
    • Ravine, David;
    • Kerr, Alison;
    • de Klerk, Nick;
    • Christodoulou, John;
    • Bailey, Mark E. S.;
    • Laurvick, Crystal;
    • Leonard, Helen
    Publication type:
    Article
    36

    Early onset seizures and Rett-like features associated with mutations in CDKL5.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1113, doi. 10.1038/sj.ejhg.5201451
    By:
    • Evans, Julie C.;
    • Archer, Hayley L.;
    • Colley, James P.;
    • Ravn, Kirstine;
    • Nielsen, Jytte Bieber;
    • Kerr, Alison;
    • Williams, Elizabeth;
    • Christodoulou, John;
    • G&écz, Jozef;
    • Jardine, Philip E.;
    • Wright, Michael J.;
    • Pilz, Daniela T.;
    • Lazarou, Lazarus;
    • Cooper, David N.;
    • Sampson, Julian R.;
    • Butler, Rachel;
    • Whatley, Sharon D.;
    • Clarke, Angus J.
    Publication type:
    Article
    37
    38

    Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.

    Published in:
    Cellular & Molecular Biology Letters, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s11658-024-00681-8
    By:
    • Walvekar, Adhish S.;
    • Warmoes, Marc;
    • Cheung, Dean;
    • Sikora, Tim;
    • Seyedkatouli, Najmesadat;
    • Gomez-Giro, Gemma;
    • Perrone, Sebastian;
    • Dengler, Lisa;
    • Unger, François;
    • Santos, Bruno F. R.;
    • Gavotto, Floriane;
    • Dong, Xiangyi;
    • Becker-Kettern, Julia;
    • Kwon, Yong-Jun;
    • Jäger, Christian;
    • Schwamborn, Jens C.;
    • Van Bergen, Nicole J.;
    • Christodoulou, John;
    • Linster, Carole L.
    Publication type:
    Article
    39

    Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome <i>b</i> Protein Expression.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004034
    By:
    • Tucker, Elena J.;
    • Wanschers, Bas F. J.;
    • Szklarczyk, Radek;
    • Mountford, Hayley S.;
    • Wijeyeratne, Xiaonan W.;
    • van den Brand, Mariël A. M.;
    • Leenders, Anne M.;
    • Rodenburg, Richard J.;
    • Reljić, Boris;
    • Compton, Alison G.;
    • Frazier, Ann E.;
    • Bruno, Damien L.;
    • Christodoulou, John;
    • Endo, Hitoshi;
    • Ryan, Michael T.;
    • Nijtmans, Leo G.;
    • Huynen, Martijn A.;
    • Thorburn, David R.
    Publication type:
    Article
    40
    41
    42
    43

    Volumetric bone mineral density and bone geometry assessed by peripheral quantitative computed tomography in women with differentiated thyroid cancer under TSH suppression.

    Published in:
    Clinical Endocrinology, 2015, v. 82, n. 2, p. 197, doi. 10.1111/cen.12560
    By:
    • Tournis, Symeon;
    • Antoniou, Julia D.;
    • Liakou, Chrysoula G.;
    • Christodoulou, John;
    • Papakitsou, Evangellia;
    • Galanos, Antonios;
    • Makris, Konstantinos;
    • Marketos, Helen;
    • Nikopoulou, Stamatina;
    • Tzavara, Ioanna;
    • Triantafyllopoulos, Ioannis K.;
    • Dontas, Ismene;
    • Papaioannou, Nikolaos;
    • Lyritis, Georgios P.;
    • Alevizaki, Maria
    Publication type:
    Article
    44

    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
    By:
    • Amarasekera, Sumudu S C;
    • Hock, Daniella H;
    • Lake, Nicole J;
    • Calvo, Sarah E;
    • Grønborg, Sabine W;
    • Krzesinski, Emma I;
    • Amor, David J;
    • Fahey, Michael C;
    • Simons, Cas;
    • Wibrand, Flemming;
    • Mootha, Vamsi K;
    • Lek, Monkol;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Østergaard, Elsebet;
    • Christodoulou, John;
    • Thorburn, David R;
    • Stroud, David A;
    • Compton, Alison G
    Publication type:
    Article
    45

    Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
    By:
    • Sleiman, Sophie;
    • Marshall, Aren E;
    • Dong, Xiaomin;
    • Mhanni, Aziz;
    • Alidou-D'Anjou, Ismaël;
    • Frosk, Patrick;
    • Marin, Samantha E;
    • Stark, Zornitza;
    • Bigio, Marc R Del;
    • McBride, Arran;
    • Sadedin, Simon;
    • Gallacher, Lyndon;
    • Consortium, Care4Rare Canada;
    • Christodoulou, John;
    • Boycott, Kym M;
    • Dragon, François;
    • Kernohan, Kristin D
    Publication type:
    Article
    46

    Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 3, p. 362, doi. 10.1093/hmg/ddab248
    By:
    • Bergen, Nicole J Van;
    • Bell, Katrina M;
    • Carey, Kirsty;
    • Gear, Russell;
    • Massey, Sean;
    • Murrell, Edward K;
    • Gallacher, Lyndon;
    • Pope, Kate;
    • Lockhart, Paul J;
    • Kornberg, Andrew;
    • Pais, Lynn;
    • Walkiewicz, Marzena;
    • Simons, Cas;
    • Flagship, MCRI Rare Diseases;
    • Wickramasinghe, Vihandha O;
    • White, Susan M;
    • Christodoulou, John
    Publication type:
    Article
    47
    48
    49
    50