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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2014, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Repressor Proteins | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epilepsy Phenome/Genome Project and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project
American journal of human genetics, ISSN 0002-9297, 2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
Journal Article
PLoS genetics, ISSN 1553-7404, 2008, Volume 4, Issue 2, pp. e1000022 - e1000022
The C. elegans eat-3 gene encodes a mitochondrial dynamin family member homologous to Opa1 in humans and Mgm1 in yeast. We find that mutations in the C.... 
CYTOCHROME-C | APOPTOSIS | DOMINANT OPTIC ATROPHY | YEAST REQUIRES | MITOCHONDRIAL OUTER-MEMBRANE | CAENORHABDITIS-ELEGANS | FUSION | COMPLEX-I | GENETICS & HEREDITY | DYNAMIN-RELATED GTPASE | RHOMBOID PROTEASE | Dynamins - metabolism | Superoxide Dismutase - genetics | Caenorhabditis elegans Proteins - chemistry | Humans | Optic Atrophy, Autosomal Dominant - metabolism | Genes, Helminth | Caenorhabditis elegans Proteins - metabolism | Molecular Sequence Data | Mitochondrial Proteins - genetics | GTP-Binding Proteins - genetics | Mitochondria - ultrastructure | RNA Interference | Free Radicals - metabolism | Superoxide Dismutase - metabolism | Amino Acid Sequence | Caenorhabditis elegans - metabolism | Free Radicals - toxicity | Optic Atrophy, Autosomal Dominant - etiology | Caenorhabditis elegans - genetics | Oxidative Phosphorylation | Dynamins - genetics | Models, Molecular | Mitochondria - metabolism | Saccharomyces cerevisiae Proteins - genetics | Sequence Homology, Amino Acid | Drug Resistance - genetics | Phenotype | Animals | Caenorhabditis elegans - drug effects | GTP Phosphohydrolases - metabolism | Dynamins - chemistry | GTP Phosphohydrolases - genetics | Optic Atrophy, Autosomal Dominant - genetics | Mutation | Paraquat - toxicity | Caenorhabditis elegans Proteins - genetics | Index Medicus | Proteins | Free radicals | Genes | Nematodes | Genetics | Mitochondrial DNA
Journal Article
The Journal of physiology, ISSN 0022-3751, 10/2014, Volume 592, Issue 20, pp. 4575 - 4589
Key points Oxidative stress is widely considered a major cause of muscle loss not only in disuse but also in most chronic diseases, triggering carbonylation of... 
TIBIALIS ANTERIOR | SKELETAL-MUSCLE | GAMMA COACTIVATOR 1-ALPHA | OXIDATIVE STRESS | PHYSIOLOGY | MITOCHONDRIAL BIOGENESIS | GENE-EXPRESSION | TRANSCRIPTIONAL COACTIVATOR | UBIQUITIN LIGASES | PROTEIN-SYNTHESIS | NEUROSCIENCES | ANTIOXIDANT CAPACITY | Up-Regulation | Dynamins - metabolism | Superoxide Dismutase - genetics | Oxidative Stress | SKP Cullin F-Box Protein Ligases - genetics | Mitochondria, Muscle - metabolism | Male | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | RNA, Messenger - metabolism | Autophagy | Tripartite Motif Proteins | Chromans - pharmacology | Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha | Muscle Proteins - metabolism | Apoptosis Regulatory Proteins - genetics | NF-E2-Related Factor 2 - genetics | Muscular Atrophy - prevention & control | Muscle Fibers, Skeletal - physiology | Superoxide Dismutase - metabolism | Beclin-1 | Muscular Atrophy - metabolism | Catalase - genetics | Mice, Inbred C57BL | RNA, Messenger - genetics | Ubiquitin-Protein Ligases - metabolism | Dynamins - genetics | SKP Cullin F-Box Protein Ligases - metabolism | Antioxidants - pharmacology | Transcription Factors - genetics | Apoptosis Regulatory Proteins - metabolism | Catalase - metabolism | Muscle Proteins - genetics | Transcription Factors - metabolism | Antioxidants - therapeutic use | Animals | Chromans - therapeutic use | Hindlimb Suspension - adverse effects | NF-E2-Related Factor 2 - metabolism | Mice | Mitochondria, Muscle - drug effects | Superoxide Dismutase-1 | Ubiquitin-Protein Ligases - genetics | Muscle
Journal Article
Journal Article
Journal Article
PLoS genetics, ISSN 1553-7404, 2010, Volume 6, Issue 6, pp. e1001000 - 18
Journal Article