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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
Journal of Neurology, ISSN 0340-5354, 07/2017, Volume 264, Issue 7, p. 1444
We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant... 
Calcium signalling | Pathogenicity | Calcium (intracellular) | Genotyping | Gait | Ataxia | Children | Mutation | Motor task performance | Inositol 1,4,5-trisphosphate | Inositol 1,4,5-trisphosphate receptors
Journal Article
Journal of Neurology, ISSN 0340-5354, 07/2017, Volume 264, Issue 7, p. 1444
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00415-017-8545-5 
Psychological aspects | Care and treatment | Gene mutations | Genetic susceptibility | Spinocerebellar ataxia | Development and progression | Microsatellites (Genetics) | Genetic aspects | Health aspects
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. i - i
The cover image, by James J. O'Byrne et al., is based on the Clinical Report Bicoronal and metopic craniosynostosis in association with a de novo unbalanced... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2012, Volume 106, Issue 3, pp. 351 - 358
Journal Article
by Casey, Jillian P and Magalhaes, Tiago and Conroy, Judith M and Regan, Regina and Shah, Naisha and Anney, Richard and Shields, Denis C and Abrahams, Brett S and Almeida, Joana and Bacchelli, Elena and Bailey, Anthony J and Baird, Gillian and Battaglia, Agatino and Berney, Tom and Bolshakova, Nadia and Bolton, Patrick F and Bourgeron, Thomas and Brennan, Sean and Cali, Phil and Correia, Catarina and Corsello, Christina and Coutanche, Marc and Dawson, Geraldine 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 Foley, Suzanne and Fombonne, Eric and Freitag, Christine M and Gilbert, John and Gillberg, Christopher and Glessner, Joseph T and Green, Jonathan and Guter, Stephen J and Hakonarson, Hakon and Holt, Richard and Hughes, Gillian and Hus, Vanessa and Igliozzi, Roberta and Kim, Cecilia and Klauck, Sabine M and Kolevzon, Alexander and Lamb, Janine A and Leboyer, Marion and Le Couteur, Ann and Leventhal, Bennett L and Lord, Catherine and Lund, Sabata C and Maestrini, Elena and Mantoulan, Carine and Marshall, Christian R and McConachie, Helen and McDougle, Christopher J and McGrath, Jane and McMahon, William M and Merikangas, Alison and Miller, Judith and Minopoli, Fiorella and Mirza, Ghazala K and Munson, Jeff and Nelson, Stanley F and Nygren, Gudrun and Oliveira, Guiomar and Pagnamenta, Alistair T and Papanikolaou, Katerina and Parr, Jeremy R and Parrini, Barbara and Pickles, Andrew and Pinto, Dalila and Piven, Joseph and Posey, David J and Poustka, Annemarie and Poustka, Fritz and Ragoussis, Jiannis and Roge, Bernadette and Rutter, Michael L and Sequeira, Ana F and Soorya, Latha and Sousa, Inês and Sykes, Nuala and Stoppioni, Vera and Tancredi, Raffaella and Tauber, Maïté and Thompson, Ann P and Thomson, Susanne and Tsiantis, John and Van Engeland, Herman and Vincent, John B and Volkmar, Fred and Vorstman, Jacob A. S and Wallace, Simon and Wang, Kai and Wassink, Thomas H and White, Kathy and Wing, Kirsty and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Human Genetics, ISSN 0340-6717, 4/2012, Volume 131, Issue 4, pp. 565 - 579
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2012, Volume 49, Issue 4, pp. 242 - 245
Journal Article
by Hadley, Dexter and Wu, Zhi-Liang and Kao, Charlly and Kini, Akshata and Mohamed-Hadley, Alisha and Thomas, Kelly and Vazquez, Lyam and Qiu, Haijun and Mentch, Frank and Pellegrino, Renata and Kim, Cecilia and Connolly, John and Glessner, Joseph and Hakonarson, Hakon and Pinto, Dalila and Merikangas, Alison and Klei, Lambertus and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pagnamenta, Alistair T and Oliveira, Bárbara and Magalhaes, Tiago R and Gilbert, John and Duketis, Eftichia and De Jonge, Maretha V and Cuccaro, Michael and Correia, Catarina T and Conroy, Judith and Conceiça, Inês C and Chiocchetti, Andreas G and Casey, Jillian P and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wallace, Simon and Van Engeland, Herman and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jacob, Suma 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 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 Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Erard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Oliveira, Guiomar and Almeida, Joana and Café, Cátia and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and Coon, Hilary and Battaglia, Agatino and Szatmari, Peter and Sutcliffe, James S and Hallmayer, Joachim and Gill, Michael and Cook, Edwin H and Buxbaum, Joseph D and Devlin, Bernie and Gallagher, Louise and Betancur, Catalina and Scherer, Stephen W and AGP Consortium and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Nature Communications, ISSN 2041-1723, 06/2014, Volume 5, Issue 1, p. 4074
Journal Article
Journal Article