Helping You Find Full Text Journal Articles

Search Results:

Author: Roberto Toro (47)


Dec
1969

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from a deletion of the distal part of chromosome 22q13 that in most cases includes thegene.is considered a major gene for PMS, but the factors that modulate the severity of the syndrome remain largely unknown.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

The neuroanatomical bases of autism spectrum disorder remain largely unknown. Among the most widely discussed candidate endophenotypes, differences in cerebellar volume have been often reported as statistically significant.
We aimed at objectifying this possible alteration by performing a systematic meta-analysis of the literature and an analysis of the ABIDE (Autism Brain Imaging Data Exchange) cohort.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes the clinical characteristics of the LEAP cohort and examines age, sex and IQ differences in ASD core symptoms and common co-occurring psychiatric symptoms. A companion paper describes the overall design and experimental protocol and outlines the strategy to identify stratification biomarkers.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular subgroups. Precision medicine approaches aim to overcome this challenge by combining pathophysiologically based treatments with stratification biomarkers that predict which treatment may be most beneficial for particular individuals. However, so far, we have no single validated stratification biomarker for ASD.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2017

The fundamental role of the brain-specific myelin transcription factor 1-like (MYT1L) gene in cases of intellectual disability and in the etiology of neurodevelopmental disorders is increasingly recognized. Yet, its function remains under-investigated. Here, we identify a network of helix-loop-helix (HLH) transcriptional regulators controlled by MYT1L, as indicated by our analyses in human neural stem cells and in the human brain.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

The second iteration of the Autism Brain Imaging Data Exchange (ABIDE II) aims to enhance the scope of brain connectomics research in Autism Spectrum Disorder (ASD). Consistent with the initial ABIDE effort (ABIDE I), that released 1112 datasets in 2012, this new multisite open-data resource is an aggregate of resting state functional magnetic resonance imaging (MRI) and corresponding structural MRI and phenotypic datasets. ABIDE II includes datasets from an additional 487 individuals with ASD and 557 controls previously collected across 16 international institutions.

View Full Text PDF Listings View primary source full text article PDFs.

Jan
2017

Novel genetic loci associated with hippocampal volume.

Nat Commun 2017 Jan 18;8:13624. Epub 2017 Jan 18.
Derrek P Hibar, Hieab H H Adams, Neda Jahanshad, Ganesh Chauhan, Jason L Stein, Edith Hofer, Miguel E Renteria, Joshua C Bis, Alejandro Arias-Vasquez, M Kamran Ikram, Sylvane Desrivières, Meike W Vernooij, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Ashley H Beecham, Alexa Beiser, Manon Bernard, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Qiang Chen, Christopher R K Ching, Vincent Chouraki, Gabriel Cuellar-Partida, Fabrice Crivello, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Boris A Gutman, Johanna Hass, Unn K Haukvik, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Kjetil N Jørgensen, Nazanin Karbalai, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre F Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, David R McKay, Yuri Milaneschi, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Paul Nyquist, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Lukas Pirpamer, Benno Pütz, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Stefan Ropele, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Arvin Saremi, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Stella Trompet, Dhananjay Vaidya, Jeroen Van der Grond, Sven J Van der Lee, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Katharina Wittfeld, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Anton J M De Craen, Eco J C De Geus, Philip L De Jager, Greig I De Zubicaray, Ian J Deary, Stéphanie Debette, Charles DeCarli, Norman Delanty, Chantal Depondt, Anita DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Christian Enzinger, Susanne Erk, Thomas Espeseth, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Myriam Fornage, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Asta K Håberg, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Matthew Huentelman, Hilleke E Hulshoff Pol, Masashi Ikeda, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Helena Schmidt, Peter R Schofield, Sigurdur Sigursson, Andrew Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Magda Tsolaki, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad van der Lugt, Nic J A van der Wee, Neeltje E M Van Haren, Dennis van 't Ent, Marie-Jose Van Tol, Badri N Vardarajan, Bruno Vellas, Dick J Veltman, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, Ronald H Zielke, Alan B Zonderman, Nicholas G Martin, Cornelia M Van Duijn, Margaret J Wright, W T Longstreth, Gunter Schumann, Hans J Grabe, Barbara Franke, Lenore J Launer, Sarah E Medland, Sudha Seshadri, Paul M Thompson, M Arfan Ikram
The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.
Hieab H H Adams, Derrek P Hibar, Vincent Chouraki, Jason L Stein, Paul A Nyquist, Miguel E Rentería, Stella Trompet, Alejandro Arias-Vasquez, Sudha Seshadri, Sylvane Desrivières, Ashley H Beecham, Neda Jahanshad, Katharina Wittfeld, Sven J Van der Lee, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Alexa Beiser, Manon Bernard, Joshua C Bis, Laura M E Blanken, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Ganesh Chauhan, Qiang Chen, Christopher R K Ching, Gabriel Cuellar-Partida, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Irina Filippi, Tian Ge, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Corina U Greven, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Johanna Hass, Unn K Haukvik, Saima Hilal, Edith Hofer, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, Jiemin Liao, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, Bernard Mazoyer, David R McKay, Rebekah McWhirter, Yuri Milaneschi, Nazanin Mirza-Schreiber, Ryan L Muetzel, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Irene Pappa, Lukas Pirpamer, Sara Pudas, Benno Pütz, Kumar B Rajan, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Russell Thomson, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Dhananjay Vaidya, Jeroen Van der Grond, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Bing Xu, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Neelum T Aggarwal, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Christopher Chen, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Eco J C De Geus, Philip L De Jager, Greig I de Zubicaray, Norman Delanty, Chantal Depondt, Anita L DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Thomas Espeseth, Denis A Evans, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Hans J Grabe, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Hilleke E Hulshoff Pol, Masashi Ikeda, M Kamran Ikram, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, W T Longstreth, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Katie L McMahon, Francis J McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Peter R Schofield, Sigurdur Sigurdsson, Andy Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Velandai Srikanth, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Henning Tiemeier, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Jessica A Turner, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad Van der Lugt, Nic J A Van der Wee, Cornelia M Van Duijn, Neeltje E M Van Haren, Dennis Van T Ent, Marie-Jose Van Tol, Badri N Vardarajan, Dick J Veltman, Meike W Vernooij, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, H Ronald Zielke, Alan B Zonderman, Ian J Deary, Charles DeCarli, Helena Schmidt, Nicholas G Martin, Anton J M De Craen, Margaret J Wright, Lenore J Launer, Gunter Schumann, Myriam Fornage, Barbara Franke, Stéphanie Debette, Sarah E Medland, M Arfan Ikram, Paul M Thompson
Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2017

Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex.

Brain Imaging Behav 2017 Oct;11(5):1497-1514
Tulio Guadalupe, Samuel R Mathias, Theo G M vanErp, Christopher D Whelan, Marcel P Zwiers, Yoshinari Abe, Lucija Abramovic, Ingrid Agartz, Ole A Andreassen, Alejandro Arias-Vásquez, Benjamin S Aribisala, Nicola J Armstrong, Volker Arolt, Eric Artiges, Rosa Ayesa-Arriola, Vatche G Baboyan, Tobias Banaschewski, Gareth Barker, Mark E Bastin, Bernhard T Baune, John Blangero, Arun L W Bokde, Premika S W Boedhoe, Anushree Bose, Silvia Brem, Henry Brodaty, Uli Bromberg, Samantha Brooks, Christian Büchel, Jan Buitelaar, Vince D Calhoun, Dara M Cannon, Anna Cattrell, Yuqi Cheng, Patricia J Conrod, Annette Conzelmann, Aiden Corvin, Benedicto Crespo-Facorro, Fabrice Crivello, Udo Dannlowski, Greig I de Zubicaray, Sonja M C de Zwarte, Ian J Deary, Sylvane Desrivières, Nhat Trung Doan, Gary Donohoe, Erlend S Dørum, Stefan Ehrlich, Thomas Espeseth, Guillén Fernández, Herta Flor, Jean-Paul Fouche, Vincent Frouin, Masaki Fukunaga, Jürgen Gallinat, Hugh Garavan, Michael Gill, Andrea Gonzalez Suarez, Penny Gowland, Hans J Grabe, Dominik Grotegerd, Oliver Gruber, Saskia Hagenaars, Ryota Hashimoto, Tobias U Hauser, Andreas Heinz, Derrek P Hibar, Pieter J Hoekstra, Martine Hoogman, Fleur M Howells, Hao Hu, Hilleke E Hulshoff Pol, Chaim Huyser, Bernd Ittermann, Neda Jahanshad, Erik G Jönsson, Sarah Jurk, Rene S Kahn, Sinead Kelly, Bernd Kraemer, Harald Kugel, Jun Soo Kwon, Herve Lemaitre, Klaus-Peter Lesch, Christine Lochner, Michelle Luciano, Andre F Marquand, Nicholas G Martin, Ignacio Martínez-Zalacaín, Jean-Luc Martinot, David Mataix-Cols, Karen Mather, Colm McDonald, Katie L McMahon, Sarah E Medland, José M Menchón, Derek W Morris, Omar Mothersill, Susana Munoz Maniega, Benson Mwangi, Takashi Nakamae, Tomohiro Nakao, Janardhanan C Narayanaswaamy, Frauke Nees, Jan E Nordvik, A Marten H Onnink, Nils Opel, Roel Ophoff, Marie-Laure Paillère Martinot, Dimitri Papadopoulos Orfanos, Paul Pauli, Tomáš Paus, Luise Poustka, Janardhan Yc Reddy, Miguel E Renteria, Roberto Roiz-Santiáñez, Annerine Roos, Natalie A Royle, Perminder Sachdev, Pascual Sánchez-Juan, Lianne Schmaal, Gunter Schumann, Elena Shumskaya, Michael N Smolka, Jair C Soares, Carles Soriano-Mas, Dan J Stein, Lachlan T Strike, Roberto Toro, Jessica A Turner, Nathalie Tzourio-Mazoyer, Anne Uhlmann, Maria Valdés Hernández, Odile A van den Heuvel, Dennis van der Meer, Neeltje E M van Haren, Dick J Veltman, Ganesan Venkatasubramanian, Nora C Vetter, Daniella Vuletic, Susanne Walitza, Henrik Walter, Esther Walton, Zhen Wang, Joanna Wardlaw, Wei Wen, Lars T Westlye, Robert Whelan, Katharina Wittfeld, Thomas Wolfers, Margaret J Wright, Jian Xu, Xiufeng Xu, Je-Yeon Yun, JingJing Zhao, Barbara Franke, Paul M Thompson, David C Glahn, Bernard Mazoyer, Simon E Fisher, Clyde Francks
The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Brainhack events offer a novel workshop format with participant-generated content that caters to the rapidly growing open neuroscience community. Including components from hackathons and unconferences, as well as parallel educational sessions, Brainhack fosters novel collaborations around the interests of its attendees. Here we provide an overview of its structure, past events, and example projects.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

The incomplete-hippocampal-inversion (IHI), also known as malrotation, is an atypical anatomical pattern of the hippocampus, which has been reported in healthy subjects in different studies. However, extensive characterization of IHI in a large sample has not yet been performed. Furthermore, it is unclear whether IHI are restricted to the medial-temporal lobe or are associated with more extensive anatomical changes.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2015

Jacobsen syndrome (JS) is characterized by intellectual disability and higher risk for autism spectrum disorders (ASD). All patients with JS are carriers of contiguous de novo deletions of 11q24.2-25, but the causative genes remain unknown.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2015

Patients with autism have been often reported to have a smaller corpus callosum (CC) than control subjects.
We conducted a meta-analysis of the literature, analyzed the CC in 694 subjects of the Autism Brain Imaging Data Exchange project, and performed computer simulations to study the effect of different analysis strategies.
Our meta-analysis suggested a group difference in CC size; however, the studies were heavily underpowered (20% power to detect Cohen's d = .

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2015

Common genetic variants influence human subcortical brain structures.

Nature 2015 Apr 21;520(7546):224-9. Epub 2015 Jan 21.
Derrek P Hibar, Jason L Stein, Miguel E Renteria, Alejandro Arias-Vasquez, Sylvane Desrivières, Neda Jahanshad, Roberto Toro, Katharina Wittfeld, Lucija Abramovic, Micael Andersson, Benjamin S Aribisala, Nicola J Armstrong, Manon Bernard, Marc M Bohlken, Marco P Boks, Janita Bralten, Andrew A Brown, M Mallar Chakravarty, Qiang Chen, Christopher R K Ching, Gabriel Cuellar-Partida, Anouk den Braber, Sudheer Giddaluru, Aaron L Goldman, Oliver Grimm, Tulio Guadalupe, Johanna Hass, Girma Woldehawariat, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, Loes M Olde Loohuis, Michelle Luciano, Christine Macare, Karen A Mather, Manuel Mattheisen, Yuri Milaneschi, Kwangsik Nho, Martina Papmeyer, Adaikalavan Ramasamy, Shannon L Risacher, Roberto Roiz-Santiañez, Emma J Rose, Alireza Salami, Philipp G Sämann, Lianne Schmaal, Andrew J Schork, Jean Shin, Lachlan T Strike, Alexander Teumer, Marjolein M J van Donkelaar, Kristel R van Eijk, Raymond K Walters, Lars T Westlye, Christopher D Whelan, Anderson M Winkler, Marcel P Zwiers, Saud Alhusaini, Lavinia Athanasiu, Stefan Ehrlich, Marina M H Hakobjan, Cecilie B Hartberg, Unn K Haukvik, Angelien J G A M Heister, David Hoehn, Dalia Kasperaviciute, David C M Liewald, Lorna M Lopez, Remco R R Makkinje, Mar Matarin, Marlies A M Naber, D Reese McKay, Margaret Needham, Allison C Nugent, Benno Pütz, Natalie A Royle, Li Shen, Emma Sprooten, Daniah Trabzuni, Saskia S L van der Marel, Kimm J E van Hulzen, Esther Walton, Christiane Wolf, Laura Almasy, David Ames, Sampath Arepalli, Amelia A Assareh, Mark E Bastin, Henry Brodaty, Kazima B Bulayeva, Melanie A Carless, Sven Cichon, Aiden Corvin, Joanne E Curran, Michael Czisch, Greig I de Zubicaray, Allissa Dillman, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Iryna O Fedko, Luigi Ferrucci, Tatiana M Foroud, Peter T Fox, Masaki Fukunaga, J Raphael Gibbs, Harald H H Göring, Robert C Green, Sebastian Guelfi, Narelle K Hansell, Catharina A Hartman, Katrin Hegenscheid, Andreas Heinz, Dena G Hernandez, Dirk J Heslenfeld, Pieter J Hoekstra, Florian Holsboer, Georg Homuth, Jouke-Jan Hottenga, Masashi Ikeda, Clifford R Jack, Mark Jenkinson, Robert Johnson, Ryota Kanai, Maria Keil, Jack W Kent, Peter Kochunov, John B Kwok, Stephen M Lawrie, Xinmin Liu, Dan L Longo, Katie L McMahon, Eva Meisenzahl, Ingrid Melle, Sebastian Mohnke, Grant W Montgomery, Jeanette C Mostert, Thomas W Mühleisen, Michael A Nalls, Thomas E Nichols, Lars G Nilsson, Markus M Nöthen, Kazutaka Ohi, Rene L Olvera, Rocio Perez-Iglesias, G Bruce Pike, Steven G Potkin, Ivar Reinvang, Simone Reppermund, Marcella Rietschel, Nina Romanczuk-Seiferth, Glenn D Rosen, Dan Rujescu, Knut Schnell, Peter R Schofield, Colin Smith, Vidar M Steen, Jessika E Sussmann, Anbupalam Thalamuthu, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Jessica A Turner, Maria C Valdés Hernández, Dennis van 't Ent, Marcel van der Brug, Nic J A van der Wee, Marie-Jose van Tol, Dick J Veltman, Thomas H Wassink, Eric Westman, Ronald H Zielke, Alan B Zonderman, David G Ashbrook, Reinmar Hager, Lu Lu, Francis J McMahon, Derek W Morris, Robert W Williams, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Wiepke Cahn, Vince D Calhoun, Gianpiero L Cavalleri, Benedicto Crespo-Facorro, Anders M Dale, Gareth E Davies, Norman Delanty, Chantal Depondt, Srdjan Djurovic, Wayne C Drevets, Thomas Espeseth, Randy L Gollub, Beng-Choon Ho, Wolfgang Hoffmann, Norbert Hosten, René S Kahn, Stephanie Le Hellard, Andreas Meyer-Lindenberg, Bertram Müller-Myhsok, Matthias Nauck, Lars Nyberg, Massimo Pandolfo, Brenda W J H Penninx, Joshua L Roffman, Sanjay M Sisodiya, Jordan W Smoller, Hans van Bokhoven, Neeltje E M van Haren, Henry Völzke, Henrik Walter, Michael W Weiner, Wei Wen, Tonya White, Ingrid Agartz, Ole A Andreassen, John Blangero, Dorret I Boomsma, Rachel M Brouwer, Dara M Cannon, Mark R Cookson, Eco J C de Geus, Ian J Deary, Gary Donohoe, Guillén Fernández, Simon E Fisher, Clyde Francks, David C Glahn, Hans J Grabe, Oliver Gruber, John Hardy, Ryota Hashimoto, Hilleke E Hulshoff Pol, Erik G Jönsson, Iwona Kloszewska, Simon Lovestone, Venkata S Mattay, Patrizia Mecocci, Colm McDonald, Andrew M McIntosh, Roel A Ophoff, Tomas Paus, Zdenka Pausova, Mina Ryten, Perminder S Sachdev, Andrew J Saykin, Andy Simmons, Andrew Singleton, Hilkka Soininen, Joanna M Wardlaw, Michael E Weale, Daniel R Weinberger, Hieab H H Adams, Lenore J Launer, Stephan Seiler, Reinhold Schmidt, Ganesh Chauhan, Claudia L Satizabal, James T Becker, Lisa Yanek, Sven J van der Lee, Maritza Ebling, Bruce Fischl, W T Longstreth, Douglas Greve, Helena Schmidt, Paul Nyquist, Louis N Vinke, Cornelia M van Duijn, Luting Xue, Bernard Mazoyer, Joshua C Bis, Vilmundur Gudnason, Sudha Seshadri, M Arfan Ikram, , , , , , Nicholas G Martin, Margaret J Wright, Gunter Schumann, Barbara Franke, Paul M Thompson, Sarah E Medland
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2014

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2014

Face expressions are a rich source of social signals. Here we estimated the proportion of phenotypic variance in the brain response to facial expressions explained by common genetic variance captured by ∼ 500,000 single nucleotide polymorphisms. Using genomic-relationship-matrix restricted maximum likelihood (GREML), we related this global genetic variance to that in the brain response to facial expressions, as assessed with functional magnetic resonance imaging (fMRI) in a community-based sample of adolescents (n = 1,620).

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2014

Neurodevelopmental disorders affect a substantial minority of the general population. Their origins are still largely unknown, but a complex interplay of genetic and environmental factors causing disturbances of the central nervous system's maturation and a variety of higher cognitive skills is presumed. Only limited research of rather small sample size and narrow scope has been conducted in neurodevelopmental disorders using a twin-differences design.

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2014

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

Brain Imaging Behav 2014 Jun;8(2):153-82
Paul M Thompson, Jason L Stein, Sarah E Medland, Derrek P Hibar, Alejandro Arias Vasquez, Miguel E Renteria, Roberto Toro, Neda Jahanshad, Gunter Schumann, Barbara Franke, Margaret J Wright, Nicholas G Martin, Ingrid Agartz, Martin Alda, Saud Alhusaini, Laura Almasy, Jorge Almeida, Kathryn Alpert, Nancy C Andreasen, Ole A Andreassen, Liana G Apostolova, Katja Appel, Nicola J Armstrong, Benjamin Aribisala, Mark E Bastin, Michael Bauer, Carrie E Bearden, Orjan Bergmann, Elisabeth B Binder, John Blangero, Henry J Bockholt, Erlend Bøen, Catherine Bois, Dorret I Boomsma, Tom Booth, Ian J Bowman, Janita Bralten, Rachel M Brouwer, Han G Brunner, David G Brohawn, Randy L Buckner, Jan Buitelaar, Kazima Bulayeva, Juan R Bustillo, Vince D Calhoun, Dara M Cannon, Rita M Cantor, Melanie A Carless, Xavier Caseras, Gianpiero L Cavalleri, M Mallar Chakravarty, Kiki D Chang, Christopher R K Ching, Andrea Christoforou, Sven Cichon, Vincent P Clark, Patricia Conrod, Giovanni Coppola, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Ian J Deary, Eco J C de Geus, Anouk den Braber, Giuseppe Delvecchio, Chantal Depondt, Lieuwe de Haan, Greig I de Zubicaray, Danai Dima, Rali Dimitrova, Srdjan Djurovic, Hongwei Dong, Gary Donohoe, Ravindranath Duggirala, Thomas D Dyer, Stefan Ehrlich, Carl Johan Ekman, Torbjørn Elvsåshagen, Louise Emsell, Susanne Erk, Thomas Espeseth, Jesen Fagerness, Scott Fears, Iryna Fedko, Guillén Fernández, Simon E Fisher, Tatiana Foroud, Peter T Fox, Clyde Francks, Sophia Frangou, Eva Maria Frey, Thomas Frodl, Vincent Frouin, Hugh Garavan, Sudheer Giddaluru, David C Glahn, Beata Godlewska, Rita Z Goldstein, Randy L Gollub, Hans J Grabe, Oliver Grimm, Oliver Gruber, Tulio Guadalupe, Raquel E Gur, Ruben C Gur, Harald H H Göring, Saskia Hagenaars, Tomas Hajek, Geoffrey B Hall, Jeremy Hall, John Hardy, Catharina A Hartman, Johanna Hass, Sean N Hatton, Unn K Haukvik, Katrin Hegenscheid, Andreas Heinz, Ian B Hickie, Beng-Choon Ho, David Hoehn, Pieter J Hoekstra, Marisa Hollinshead, Avram J Holmes, Georg Homuth, Martine Hoogman, L Elliot Hong, Norbert Hosten, Jouke-Jan Hottenga, Hilleke E Hulshoff Pol, Kristy S Hwang, Clifford R Jack, Mark Jenkinson, Caroline Johnston, Erik G Jönsson, René S Kahn, Dalia Kasperaviciute, Sinead Kelly, Sungeun Kim, Peter Kochunov, Laura Koenders, Bernd Krämer, John B J Kwok, Jim Lagopoulos, Gonzalo Laje, Mikael Landen, Bennett A Landman, John Lauriello, Stephen M Lawrie, Phil H Lee, Stephanie Le Hellard, Herve Lemaître, Cassandra D Leonardo, Chiang-Shan Li, Benny Liberg, David C Liewald, Xinmin Liu, Lorna M Lopez, Eva Loth, Anbarasu Lourdusamy, Michelle Luciano, Fabio Macciardi, Marise W J Machielsen, Glenda M Macqueen, Ulrik F Malt, René Mandl, Dara S Manoach, Jean-Luc Martinot, Mar Matarin, Karen A Mather, Manuel Mattheisen, Morten Mattingsdal, Andreas Meyer-Lindenberg, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Eva Meisenzahl, Ingrid Melle, Yuri Milaneschi, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Eric K Moses, Bryon A Mueller, Susana Muñoz Maniega, Thomas W Mühleisen, Bertram Müller-Myhsok, Benson Mwangi, Matthias Nauck, Kwangsik Nho, Thomas E Nichols, Lars-Göran Nilsson, Allison C Nugent, Lars Nyberg, Rene L Olvera, Jaap Oosterlaan, Roel A Ophoff, Massimo Pandolfo, Melina Papalampropoulou-Tsiridou, Martina Papmeyer, Tomas Paus, Zdenka Pausova, Godfrey D Pearlson, Brenda W Penninx, Charles P Peterson, Andrea Pfennig, Mary Phillips, G Bruce Pike, Jean-Baptiste Poline, Steven G Potkin, Benno Pütz, Adaikalavan Ramasamy, Jerod Rasmussen, Marcella Rietschel, Mark Rijpkema, Shannon L Risacher, Joshua L Roffman, Roberto Roiz-Santiañez, Nina Romanczuk-Seiferth, Emma J Rose, Natalie A Royle, Dan Rujescu, Mina Ryten, Perminder S Sachdev, Alireza Salami, Theodore D Satterthwaite, Jonathan Savitz, Andrew J Saykin, Cathy Scanlon, Lianne Schmaal, Hugo G Schnack, Andrew J Schork, S Charles Schulz, Remmelt Schür, Larry Seidman, Li Shen, Jody M Shoemaker, Andrew Simmons, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Jair C Soares, Scott R Sponheim, Emma Sprooten, John M Starr, Vidar M Steen, Stephen Strakowski, Lachlan Strike, Jessika Sussmann, Philipp G Sämann, Alexander Teumer, Arthur W Toga, Diana Tordesillas-Gutierrez, Daniah Trabzuni, Sarah Trost, Jessica Turner, Martijn Van den Heuvel, Nic J van der Wee, Kristel van Eijk, Theo G M van Erp, Neeltje E M van Haren, Dennis van 't Ent, Marie-Jose van Tol, Maria C Valdés Hernández, Dick J Veltman, Amelia Versace, Henry Völzke, Robert Walker, Henrik Walter, Lei Wang, Joanna M Wardlaw, Michael E Weale, Michael W Weiner, Wei Wen, Lars T Westlye, Heather C Whalley, Christopher D Whelan, Tonya White, Anderson M Winkler, Katharina Wittfeld, Girma Woldehawariat, Christiane Wolf, David Zilles, Marcel P Zwiers, Anbupalam Thalamuthu, Peter R Schofield, Nelson B Freimer, Natalia S Lawrence, Wayne Drevets,
The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

How does the brain integrate multiple sources of information to support normal sensorimotor and cognitive functions? To investigate this question we present an overall brain architecture (called "the dual intertwined rings architecture") that relates the functional specialization of cortical networks to their spatial distribution over the cerebral cortex (or "corticotopy"). Recent results suggest that the resting state networks (RSNs) are organized into two large families: 1) a sensorimotor family that includes visual, somatic, and auditory areas and 2) a large association family that comprises parietal, temporal, and frontal regions and also includes the default mode network. We used two large databases of resting state fMRI data, from which we extracted 32 robust RSNs.

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2013

Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized by social and communication deficits and repetitive behaviors. For the majority of affected individuals, the cause of ASD remains unknown, but in at least 20% of the cases, a genetic cause can be identified. There is currently no cure for ASD; however, results from mouse models indicate that some forms of the disorder could be alleviated even at the adult stage.

View Full Text PDF Listings View primary source full text article PDFs.

Feb
2013

The purpose of this investigation was to evaluate an association between duration of exclusive breastfeeding and structure of cortical regions implicated in general intelligence.
We studied adolescents (n = 571; aged 12-18 years) participating in the Saguenay Youth Study; half of the participants were exposed to maternal cigarette smoking during pregnancy. Hierarchical linear modelling was used to assess whether breastfeeding is an important predictor of cortical thickness when other predictors, such as age, sex, parental education and exposure to maternal smoking during pregnancy, are also considered.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2012

The description of cortical folding pattern (CFP) is challenging because of geometric complexity and inter-subject variability. On a cortical surface mesh, curvature estimation provides a good scalar proxy of CFP. The oscillations of this function can be studied using a Fourier-like analysis to produce a power spectrum representative of the spatial frequency composition of CFP.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2012

Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized by deficits in social interaction and communication, and by repetitive behaviour. Mutations in synaptic proteins such as neuroligins, neurexins, GKAPs/SAPAPs and ProSAPs/Shanks were identified in patients with autism spectrum disorder, but the causative mechanisms remain largely unknown. ProSAPs/Shanks build large homo- and heteromeric protein complexes at excitatory synapses and organize the complex protein machinery of the postsynaptic density in a laminar fashion.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2012

Identification of common variants associated with human hippocampal and intracranial volumes.

Nat Genet 2012 Apr 15;44(5):552-61. Epub 2012 Apr 15.
Jason L Stein, Sarah E Medland, Alejandro Arias Vasquez, Derrek P Hibar, Rudy E Senstad, Anderson M Winkler, Roberto Toro, Katja Appel, Richard Bartecek, Ørjan Bergmann, Manon Bernard, Andrew A Brown, Dara M Cannon, M Mallar Chakravarty, Andrea Christoforou, Martin Domin, Oliver Grimm, Marisa Hollinshead, Avram J Holmes, Georg Homuth, Jouke-Jan Hottenga, Camilla Langan, Lorna M Lopez, Narelle K Hansell, Kristy S Hwang, Sungeun Kim, Gonzalo Laje, Phil H Lee, Xinmin Liu, Eva Loth, Anbarasu Lourdusamy, Morten Mattingsdal, Sebastian Mohnke, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Carol O'Brien, Martina Papmeyer, Benno Pütz, Adaikalavan Ramasamy, Jerod Rasmussen, Mark Rijpkema, Shannon L Risacher, J Cooper Roddey, Emma J Rose, Mina Ryten, Li Shen, Emma Sprooten, Eric Strengman, Alexander Teumer, Daniah Trabzuni, Jessica Turner, Kristel van Eijk, Theo G M van Erp, Marie-Jose van Tol, Katharina Wittfeld, Christiane Wolf, Saskia Woudstra, Andre Aleman, Saud Alhusaini, Laura Almasy, Elisabeth B Binder, David G Brohawn, Rita M Cantor, Melanie A Carless, Aiden Corvin, Michael Czisch, Joanne E Curran, Gail Davies, Marcio A A de Almeida, Norman Delanty, Chantal Depondt, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Jesen Fagerness, Peter T Fox, Nelson B Freimer, Michael Gill, Harald H H Göring, Donald J Hagler, David Hoehn, Florian Holsboer, Martine Hoogman, Norbert Hosten, Neda Jahanshad, Matthew P Johnson, Dalia Kasperaviciute, Jack W Kent, Peter Kochunov, Jack L Lancaster, Stephen M Lawrie, David C Liewald, René Mandl, Mar Matarin, Manuel Mattheisen, Eva Meisenzahl, Ingrid Melle, Eric K Moses, Thomas W Mühleisen, Matthias Nauck, Markus M Nöthen, Rene L Olvera, Massimo Pandolfo, G Bruce Pike, Ralf Puls, Ivar Reinvang, Miguel E Rentería, Marcella Rietschel, Joshua L Roffman, Natalie A Royle, Dan Rujescu, Jonathan Savitz, Hugo G Schnack, Knut Schnell, Nina Seiferth, Colin Smith, Vidar M Steen, Maria C Valdés Hernández, Martijn Van den Heuvel, Nic J van der Wee, Neeltje E M Van Haren, Joris A Veltman, Henry Völzke, Robert Walker, Lars T Westlye, Christopher D Whelan, Ingrid Agartz, Dorret I Boomsma, Gianpiero L Cavalleri, Anders M Dale, Srdjan Djurovic, Wayne C Drevets, Peter Hagoort, Jeremy Hall, Andreas Heinz, Clifford R Jack, Tatiana M Foroud, Stephanie Le Hellard, Fabio Macciardi, Grant W Montgomery, Jean Baptiste Poline, David J Porteous, Sanjay M Sisodiya, John M Starr, Jessika Sussmann, Arthur W Toga, Dick J Veltman, Henrik Walter, Michael W Weiner, , , , , Joshua C Bis, M Arfan Ikram, Albert V Smith, Vilmundur Gudnason, Christophe Tzourio, Meike W Vernooij, Lenore J Launer, Charles DeCarli, Sudha Seshadri, , Ole A Andreassen, Liana G Apostolova, Mark E Bastin, John Blangero, Han G Brunner, Randy L Buckner, Sven Cichon, Giovanni Coppola, Greig I de Zubicaray, Ian J Deary, Gary Donohoe, Eco J C de Geus, Thomas Espeseth, Guillén Fernández, David C Glahn, Hans J Grabe, John Hardy, Hilleke E Hulshoff Pol, Mark Jenkinson, René S Kahn, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Andreas Meyer-Lindenberg, Derek W Morris, Bertram Müller-Myhsok, Thomas E Nichols, Roel A Ophoff, Tomas Paus, Zdenka Pausova, Brenda W Penninx, Steven G Potkin, Philipp G Sämann, Andrew J Saykin, Gunter Schumann, Jordan W Smoller, Joanna M Wardlaw, Michael E Weale, Nicholas G Martin, Barbara Franke, Margaret J Wright, Paul M Thompson,
Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2012

Empirical evidence increasingly supports the hypothesis that patterns of intrinsic functional connectivity (iFC) are sculpted by a history of evoked coactivation within distinct neuronal networks. This, together with evidence of strong correspondence among the networks defined by iFC and those delineated using a variety of other neuroimaging techniques, suggests a fundamental brain architecture detectable across multiple functional and structural imaging modalities. Here, we leverage this insight to examine the functional organization of the human insula.

View Full Text PDF Listings View primary source full text article PDFs.

Feb
2012

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2012

The most dramatic growth of the human brain occurs in utero and during the first 2 years of postnatal life. Genesis of the cerebral cortex involves cell proliferation, migration, and apoptosis, all of which may be influenced by prenatal environment. Here, we show that variation in KCTD8 (potassium channel tetramerization domain 8) is associated with brain size in female adolescents (rs716890, P = 5.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2011

Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population.

View Full Text PDF Listings View primary source full text article PDFs.

Mar
2011

Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2010

Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and repetitive, stereotyped verbal and non-verbal behaviors. Genetic studies have provided a relatively large number of genes that constitute a comprehensive framework to better understand this complex and heterogeneous syndrome. Based on the most robust findings, three observations can be made.

View Full Text PDF Listings View primary source full text article PDFs.

View Full Text PDF Listings View primary source full text article PDFs.

Mar
2010

Previous studies have shown smaller brain volume and less gray matter in children with attention-deficit/hyperactivity disorder (ADHD). Relatively few morphological studies have examined structures thought to subserve inhibitory control, one of the diagnostic features of ADHD. We examined one such region, the pars opercularis, predicting a thinner cortex of the inferior frontal gyrus (IFG) in children with ADHD.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2009

Prenatal exposure to maternal cigarette smoking (PEMCS) may affect brain development and behavior in adolescent offspring.
To evaluate the involvement of the orbitofrontal cortex (OFC) in mediating the relationship between PEMCS and substance use.
Cross-sectional analyses from the Saguenay Youth Study aimed at evaluating the effects of PEMCS on brain development and behavior among adolescents.

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2010

There is increasing evidence that children with autism spectrum disorder (ASD) have age-related differences from controls in cortical volume (CV). It is less clear, however, if these persist in adulthood and whether these reflect alterations in cortical thickness (CT) or cortical surface area (SA). Hence, we used magnetic resonance imaging to investigate the relationship between age and CV, CT, and SA in 127 males aged 10 through 60 years (76 with ASD and 51 healthy controls).

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Recent studies with magnetic resonance imaging suggest that age-related changes in white matter during male adolescence may indicate an increase in g ratio wherein the radial growth of an axon outpaces a corresponding increase in myelin thickness. We review the original Rushton (1951) model where a g ratio of approximately 0.6 represents an optimal relationship between the axon and fibre diameters vis-à-vis conduction velocity, and point out evidence indicating slightly higher g ratio in large-diameter fibres.

View Full Text PDF Listings View primary source full text article PDFs.

Sep
2009

Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD.

View Full Text PDF Listings View primary source full text article PDFs.

Aug
2009

Neural connections, providing the substrate for functional networks, exist whether or not they are functionally active at any given moment. However, it is not known to what extent brain regions are continuously interacting when the brain is "at rest." In this work, we identify the major explicit activation networks by carrying out an image-based activation network analysis of thousands of separate activation maps derived from the BrainMap database of functional imaging studies, involving nearly 30,000 human subjects.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2009

A common Single-Nucleotide Polymorphism in the Brain-Derived Neurotrophic Factor (BDNF) gene coding the Val66Met substitution in the pro-BDNF protein has been associated with a number of behavioural and neuroanatomical phenotypes; the latter include, for example, regional differences in volumes of the hippocampus and prefrontal grey matter. Here, we show that the observed regional differences may not stem from a localised effect of this gene. Our analysis of regional brain volume in a cohort of 331 adolescents indicates that the Val66Met substitution has a global effect on brain volume, and that the observed local differences are to be expected if brain allometry-the covariance pattern of regional brain volumes-is taken into account.

View Full Text PDF Listings View primary source full text article PDFs.

Dec
1969

Children with high resistance to peer influences differ from their low-resistance counterparts in the degree of functional connectivity in fronto-parietal and prefrontal cortical networks. Here we explored the possibility that the degree of morphological similarities across the same cortical regions also varies as a function of this behavioral trait. Using structural magnetic-resonance (MR) images, we measured cortical thickness in a total of 295 adolescents (12 to 18 years of age).

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2008

Functional coactivation map of the human brain.

Cereb Cortex 2008 Nov 21;18(11):2553-9. Epub 2008 Feb 21.
Roberto Toro, Peter T Fox, Tomás Paus
Understanding the interactions among different brain regions is fundamental to our understanding of brain function. Here we describe a complete map of functional connections in the human brain derived by an automatic meta-analysis of 825 neuroimaging articles, representing 3402 experiments. The likelihood of a functional connection between regions was estimated by studying the interdependence of their "activity," as reported in each experiment, across all experiments.

View Full Text PDF Listings View primary source full text article PDFs.

Oct
2008

During evolution, the mammalian cerebral cortex has expanded disproportionately to brain volume. As a consequence, most mammals with large brains have profusely convoluted cortices. The human cortex is a good example of this trend, however, given the large variability in human brain size, it is not clear how cortical folding varies from the smallest to the largest brains.

View Full Text PDF Listings View primary source full text article PDFs.

Jul
2007

During the shift from a parent-dependent child to a fully autonomous adult, peers take on a significant role in shaping the adolescent's behavior. Peer-derived influences are not always positive, however. Here, we explore neural correlates of interindividual differences in the probability of resisting peer influence in early adolescence.

View Full Text PDF Listings View primary source full text article PDFs.

Apr
2008

Smoking during pregnancy is associated with long-term consequences on offspring behavior. We measured thickness of the cerebral cortex using magnetic resonance images obtained in 155 adolescents exposed in utero to maternal smoking and compared them with 159 non-exposed subjects matched by maternal education. Orbitofrontal, middle frontal, and parahippocampal cortices were thinner in exposed, as compared with non-exposed, individuals; these differences were more pronounced in female adolescents.

View Full Text PDF Listings View primary source full text article PDFs.

Jun
2007

The search for genes of complex traits is aided by the availability of multiple quantitative phenotypes collected in geographically isolated populations. Here we provide rationale for a large-scale study of gene-environment interactions influencing brain and behavior and cardiovascular and metabolic health in adolescence, namely the Saguenay Youth Study (SYS). The SYS is a retrospective study of long-term consequences of prenatal exposure to maternal cigarette smoking (PEMCS) in which multiple quantitative phenotypes are acquired over five sessions (telephone interview, home, hospital, laboratory, and school).

View Full Text PDF Listings View primary source full text article PDFs.

Dec
2005

A morphogenetic model for the development of cortical convolutions.

Cereb Cortex 2005 Dec 9;15(12):1900-13. Epub 2005 Mar 9.
Roberto Toro, Yves Burnod
The convolutions of the mammalian cortex are one of its most intriguing characteristics. Their pattern is very distinctive for different species, and there seems to be a remarkable relationship between convolutions and the architectonic and functional regionalization of the cerebral cortex. Yet the mechanisms behind the development of convolutions and their association with the cortical regionalization are poorly understood.

View Full Text PDF Listings View primary source full text article PDFs.

Nov
2003

Recent atlases of the cortical surface are based on a modelization of the cerebral cortex as a topological sphere. This captures effectively its organization as a regular bidimensional sheet of layers parallel to the surface and with perpendicular cortical columns. Yet, while in the vertical direction cortices are almost the same throughout phylia, in the sense of its surface the cerebral cortex is one of the most variable and distinctive parts of the nervous system.

View Full Text PDF Listings View primary source full text article PDFs.

Back to top