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by Gillberg, Christopher and Kolevzon, Alexander and Nelson, Stanley F and Sansom, Katherine and Casallo, Guillermo and Miller, Judith and Brennan, Sean and Leboyer, Marion and Bacchelli, Elena and Delorme, Richard and Fombonne, Eric and Hallmayer, Joachim and Green, Jonathan and Pickles, Andrew and Heron, Elizabeth A and Salt, Jeff and Battaglia, Agatino and Klauck, Sabine M and McDougle, Christopher J and Mahoney, William and Noor, Abdul and Cytrynbaum, Cheryl and Sato, Daisuke and Almeida, Joana and Korvatska, Olena and Dawson, Geraldine and Bierut, Laura J and Coon, Hilary and Rickaby, Jessica and Freitag, Christine M and Roeder, Kathryn and Bader, Gary D and Wijsman, Ellen M and Vincent, John B and Hakonarson, Hakon and Segurado, Ricardo and Paton, Tara and Roge, Bernadette and Ennis, Sean and Kim, Cecilia and Monaco, Anthony P and Paterson, Andrew D and Crossett, Andrew and McGrath, Jane and Carson, Andrew R and Le Couteur, Ann and Cook, Edwin H and Chung, Brian H.Y and Cuccaro, Michael L and Van Engeland, Herman and Conroy, Judith and Holt, Richard and Strawbridge, Christina and Kustanovich, Vlad and Migita, Ohsuke and Stoppioni, Vera and Igliozzi, Roberta and Poustka, Fritz and Stein, Olaf and Posey, David J and Sheffield, Val C and Duque, Frederico and Parrini, Barbara and Berney, Tom and Hus, Vanessa and Baird, Gillian and Duketis, Eftichia and Soorya, Latha and Corsello, Christina and Drmic, Irene and Sousa, Inês and Abrahams, Brett S and Thomson, Susanne and Lajonchere, Clara M and Tsiantis, John and Pinto, Dalila and Green, Andrew and Hughes, Gillian and Mantoulan, Carine and Betancur, Catalina and Volkmar, Fred and Poustka, Annemarie and Shah, Naisha and Bryson, Susan E and Munson, Jeff and Tancredi, Raffaella and Nygren, Gudrun and Wittemeyer, Kerstin and Merikangas, Alison and Oliveira, Guiomar and Farrar, Penny and Maestrini, Elena and Liu, Xiao-Qing and Gallagher, Louise and McConachie, Helen and Zurawiecki, Danielle and Schellenberg, Gerard D and Glessner, Joseph T and Lord, Catherine and Piven, Joseph and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article
by Pinto, Dalila and Delaby, Elsa and Merico, Daniele and Barbosa, Mafalda and Merikangas, Alison and Klei, Lambertus and Thiruvahindrapuram, Bhooma and Xu, Xiao and Ziman, Robert and Wang, Zhuozhi and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Guiomar and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Howe, Jennifer L and Griswold, Anthony J and Gilbert, John and Duketis, Eftichia and Dombroski, Beth A and De Jonge, Maretha V and Cuccaro, Michael and Crawford, Emily L and Correia, Catarina T and Conroy, Judith and Conceição, Inês C and Chiocchetti, Andreas G and Casey, Graham and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and Wallace, Simon and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McInnes, L. Alison and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jiménez González, Patricia and Jacob, Suma and Holt, Richard and Guter, Stephen and Green, Jonathan and Green, Andrew and Gillberg, Christopher and Fernandez, Bridget A and Duque, Frederico and Delorme, Richard and Dawson, Geraldine and Chaste, Pauline and Café, Cátia and Brennan, Sean and Bourgeron, Thomas and Bolton, Patrick F and Bölte, Sven and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Anagnostou, Evdokia and Almeida, Joana and Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Hakonarson, Hakon and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Journal Article
by Anney, Richard and Klei, Lambertus and Pinto, Dalila and Almeida, Joana and Bacchelli, Elena and Baird, Gillian and Bolshakova, Nadia and Bölte, Sven and Bolton, Patrick F and Bourgeron, Thomas and Brennan, Sean and Brian, Jessica and Casey, Jillian and Conroy, Judith and Correia, Catarina and Corsello, Christina and Crawford, Emily L and De jonge, Maretha and Delorme, Richard and Duketis, Eftichia and Duque, Frederico and Estes, Annette and Farrar, Penny and Fernandez, Bridget A and Folstein, Susan E and Fombonne, Eric and Gilbert, John and Gillberg, Christopher and Glessner, Joseph T and Green, Andrew and Green, Jonathan and Guter, Stephen J and Heron, Elizabeth A and Holt, Richard and Howe, Jennifer L and Hughes, Gillian and Hus, Vanessa and Igliozzi, Roberta and Jacob, Suma and Kenny, Graham P and Kim, Cecilia and Kolevzon, Alexander and Kustanovich, Vlad and Lajonchere, Clara M and Lamb, Janine A and Law-Smith, Miriam and Leboyer, Marion and Le couteur, Ann and Leventhal, Bennett L and Liu, Xiao-Qing and Lombard, Frances and Lord, Catherine and Lotspeich, Linda and Lund, Sabata C and Magalhaes, Tiago R and Mantoulan, Carine and McDougle, Christopher J and Melhem, Nadine M and Merikangas, Alison and Minshew, Nancy J and Mirza, Ghazala K and Munson, Jeff and Noakes, Carolyn and Nygren, Gudrun and Papanikolaou, Katerina and Pagnamenta, Alistair T and Parrini, Barbara and Paton, Tara and Pickles, Andrew and Posey, David J and Poustka, Fritz and Ragoussis, Jiannis and Regan, Regina and Roberts, Wendy and Roeder, Kathryn and Roge, Bernadette and Rutter, Michael L and Schlitt, Sabine and Shah, Naisha and Sheffield, Val C and Soorya, Latha and Sousa, Inês and Stoppioni, Vera and Sykes, Nuala and Tancredi, Raffaella and Thompson, Ann P and Thomson, Susanne and Tryfon, Ana and Tsiantis, John and Van Engeland, Herman and Vincent, John B and Volkmar, Fred and Vorstman, J.A.S and Wallace, Simon and Wing, Kirsty and Wittemeyer, Kerstin and Wood, Shawn and Zurawiecki, Danielle and Zwaigenbaum, Lonnie and Bailey, Anthony J and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Human Molecular Genetics, ISSN 0964-6906, 11/2012, Volume 21, Issue 21, pp. 4781 - 4792
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2010, Volume 19, Issue 24, pp. 4837 - 4847
Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most... 
DIAGNOSIS | DATABASE | LEIGH-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | TRANSDUCTION | DISORDERS | GENERATION | MUTATIONS | DEFICIENCY | PREDICTION
Journal Article
by Weiner, Daniel J and Wigdor, Emilie M and Ripke, Stephan and Walters, Raymond K and Kosmicki, Jack A and Grove, Jakob and Samocha, Kaitlin E and Goldstein, Jacqueline I and Okbay, Aysu and Bybjerg-Grauholm, Jonas and Werge, Thomas and Hougaard, David M and Taylor, Jacob and Skuse, David and Devlin, Bernie and Anney, Richard and Sanders, Stephan J and Bishop, Somer and Mortensen, Preben Bo and Børglum, Anders D and Smith, George Davey and Daly, Mark J and Robinson, Elise B and Bækvad-Hansen, Marie and Dumont, Ashley and Hansen, Christine and Hansen, Thomas F and Howrigan, Daniel and Mattheisen, Manuel and Moran, Jennifer and Mors, Ole and Nordentoft, Merete and Nørgaard-Pedersen, Bent and Poterba, Timothy and Poulsen, Jesper and Stevens, Christine and Anttila, Verneri and Holmans, Peter and Huang, Hailiang and Klei, Lambertus and Lee, Phil H and Medland, Sarah E and Neale, Benjamin and Weiss, Lauren A and Zwaigenbaum, Lonnie and Yu, Timothy W and Wittemeyer, Kerstin and Willsey, A Jeremy and Wijsman, Ellen M and Wassink, Thomas H and Waltes, Regina and Walsh, Christopher A and Wallace, Simon and Vorstman, Jacob A. S and Vieland, Veronica J and Vicente, Astrid M and Van Engeland, Herman and Tsang, Kathryn and Thompson, Ann P and Szatmari, Peter and Svantesson, Oscar and Steinberg, Stacy and Stefansson, Kari and Stefansson, Hreinn and State, Matthew W and Soorya, Latha and Silagadze, Teimuraz and Scherer, Stephen W and Schellenberg, Gerard D and Sandin, Sven and Saemundsen, Evald and Rouleau, Guy A and Rogé, Bernadette and Roeder, Kathryn and Roberts, Wendy and Reichert, Jennifer and Reichenberg, Abraham and Rehnström, Karola and Regan, Regina and Poustka, Fritz and Poultney, Christopher S and Piven, Joseph and Pinto, Dalila and Pericak-Vance, Margaret A and Pejovic-Milovancevic, Milica and Pedersen, Marianne G and Pedersen, Carsten B and Paterson, Andrew D and Parr, Jeremy R and Pagnamenta, Alistair T and Oliveira, Guiomar and Nurnberger, John I and Murtha, Michael T and Mouga, Susana and Morrow, Eric M and DeLuca, Daniel Moreno and Monaco, Anthony P and Minshew, Nancy and Merikangas, Alison and McMahon, William M and ... and Psychiat Genomics Consortium and iPSYCH-Broad Autism Grp and iPSYCH-Broad Autism Group and Psychiatric Genomics Consortium Autism Group and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 978 - 985
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 278 - 287
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 12, pp. 3200 - 3211
Journal Article