Ausgabe 1/2014
Inhalt (57 Artikel)
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Holly N Cukier, Nicole D Dueker, Susan H Slifer, Joycelyn M Lee, Patrice L Whitehead, Eminisha Lalanne, Natalia Leyva, Ioanna Konidari, Ryan C Gentry, William F Hulme, Derek Van Booven, Vera Mayo, Natalia K Hofmann, Michael A Schmidt, Eden R Martin, Jonathan L Haines, Michael L Cuccaro, John R Gilbert, Margaret A Pericak-Vance
Reliability of self, parental, and researcher measurements of head circumference
Jillian C Sullivan, Teresa Tavassoli, Kimberly Armstrong, Simon Baron-Cohen, Ayla Humphrey
Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome
Hannah Steeb, Jordan M Ramsey, Paul C Guest, Pawel Stocki, Jason D Cooper, Hassan Rahmoune, Erin Ingudomnukul, Bonnie Auyeung, Liliana Ruta, Simon Baron-Cohen, Sabine Bahn
Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards
Cara R Damiano, Joseph Aloi, Kaitlyn Dunlap, Caley J Burrus, Maya G Mosner, Rachel V Kozink, Ralph Edward McLaurin, O’Dhaniel A Mullette-Gillman, Ronald McKell Carter, Scott A Huettel, Francis Joseph McClernon, Allison Ashley-Koch, Gabriel S Dichter
Abnormal lateralization of functional connectivity between language and default mode regions in autism
Jared A Nielsen, Brandon A Zielinski, P Thomas Fletcher, Andrew L Alexander, Nicholas Lange, Erin D Bigler, Janet E Lainhart, Jeffrey S Anderson
Individual differences in autistic traits predict the perception of direct gaze for males, but not for females
Daisuke Matsuyoshi, Kana Kuraguchi, Yumiko Tanaka, Seina Uchida, Hiroshi Ashida, Katsumi Watanabe
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population
Nori Matsunami, Charles H Hensel, Lisa Baird, Jeff Stevens, Brith Otterud, Tami Leppert, Tena Varvil, Dexter Hadley, Joseph T Glessner, Renata Pellegrino, Cecilia Kim, Kelly Thomas, Fengxiang Wang, Frederick G Otieno, Karen Ho, Gerald B Christensen, Dongying Li, Rytis Prekeris, Christophe G Lambert, Hakon Hakonarson, Mark F Leppert
Protein signatures of oxidative stress response in a patient specific cell line model for autism
Andreas G Chiocchetti, Denise Haslinger, Maximilian Boesch, Thomas Karl, Stefan Wiemann, Christine M Freitag, Fritz Poustka, Burghardt Scheibe, Johann W Bauer, Helmut Hintner, Michael Breitenbach, Josef Kellermann, Friedrich Lottspeich, Sabine M Klauck, Lore Breitenbach-Koller
Engrailed2 modulates cerebellar granule neuron precursor proliferation, differentiation and insulin-like growth factor 1 signaling during postnatal development
Ian T Rossman, Lulu Lin, Katherine M Morgan, Marissa DiGiovine, Elise K Van Buskirk, Silky Kamdar, James H Millonig, Emanuel DiCicco-Bloom
STX1A and Asperger syndrome: a replication study
Jaroslava Durdiaková, Varun Warrier, Sharmila Banerjee-Basu, Simon Baron-Cohen, Bhismadev Chakrabarti
Behavioral signatures related to genetic disorders in autism
Hilgo Bruining, Marinus JC Eijkemans, Martien JH Kas, Sarah R Curran, Jacob AS Vorstman, Patrick F Bolton
Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism
Neha Uppal, Isabella Gianatiempo, Bridget Wicinski, James Schmeidler, Helmut Heinsen, Christoph Schmitz, Joseph D Buxbaum, Patrick R Hof
Is inhibitory control a ‘no-go’ in adolescents with autism spectrum disorder?
Anji S Vara, Elizabeth W Pang, Krissy AR Doyle-Thomas, Julie Vidal, Margot J Taylor, Evdokia Anagnostou
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Sek Won Kong, Mustafa Sahin, Christin D Collins, Mary H Wertz, Malcolm G Campbell, Jarrett D Leech, Dilja Krueger, Mark F Bear, Louis M Kunkel, Isaac S Kohane
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence
Beate St Pourcain, David H Skuse, William P Mandy, Kai Wang, Hakon Hakonarson, Nicholas J Timpson, David M Evans, John P Kemp, Susan M Ring, Wendy L McArdle, Jean Golding, George Davey Smith
Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder
Donna M Werling, Jennifer K Lowe, Rui Luo, Rita M Cantor, Daniel H Geschwind
Gender differences in emotionality and sociability in children with autism spectrum disorders
Alexandra M Head, Jane A McGillivray, Mark A Stokes
Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder
Simon Trent, Jonathan P Fry, Obah A Ojarikre, William Davies
Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome
Jaroslava Durdiaková, Varun Warrier, Simon Baron-Cohen, Bhismadev Chakrabarti
Rating scale measures are associated with Noldus EthoVision-XT video tracking of behaviors of children on the autism spectrum
Ira L Cohen, Judith M Gardner, Bernard Z Karmel, Soh-Yule Kim
The effect of intranasal oxytocin versus placebo treatment on the autonomic responses to human sounds in autism: a single-blind, randomized, placebo-controlled, crossover design study
I-Fan Lin, Makio Kashino, Haruhisa Ohta, Takashi Yamada, Masayuki Tani, Hiromi Watanabe, Chieko Kanai, Taisei Ohno, Yuko Takayama, Akira Iwanami, Nobumasa Kato
First evidence of sensory atypicality in mothers of children with Autism Spectrum Disorder (ASD)
Mirko Uljarević, Margot R Prior, Susan R Leekam
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Catarina T Correia, Inês C Conceição, Bárbara Oliveira, Joana Coelho, Inês Sousa, Ana F Sequeira, Joana Almeida, Cátia Café, Frederico Duque, Susana Mouga, Wendy Roberts, Kun Gao, Jennifer K Lowe, Bhooma Thiruvahindrapuram, Susan Walker, Christian R Marshall, Dalila Pinto, John I Nurnberger, Stephen W Scherer, Daniel H Geschwind, Guiomar Oliveira, Astrid M Vicente
The Sensory Perception Quotient (SPQ): development and validation of a new sensory questionnaire for adults with and without autism
Teresa Tavassoli, Rosa A Hoekstra, Simon Baron-Cohen
Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits
Li-Feng Jiang-Xie, Hsiao-Mei Liao, Chia-Hsiang Chen, Yuh-Tarng Chen, Shih-Yin Ho, Dai-Hua Lu, Li-Jen Lee, Horng-Huei Liou, Wen-Mei Fu, Susan Shur-Fen Gau
Uncovering steroidopathy in women with autism: a latent class analysis
Alexa Pohl, Sarah Cassidy, Bonnie Auyeung, Simon Baron-Cohen
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
Xiaoming Wang, Qiong Xu, Alexandra L Bey, Yoonji Lee, Yong-hui Jiang
N-ethylmaleimide-sensitive factor interacts with the serotonin transporter and modulates its trafficking: implications for pathophysiology in autism
Keiko Iwata, Hideo Matsuzaki, Taro Tachibana, Koji Ohno, Saori Yoshimura, Hironori Takamura, Kohei Yamada, Shinsuke Matsuzaki, Kazuhiko Nakamura, Kenji J Tsuchiya, Kaori Matsumoto, Masatsugu Tsujii, Toshirou Sugiyama, Taiichi Katayama, Norio Mori
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Abha R Gupta, Michelle Pirruccello, Feng Cheng, Hyo Jung Kang, Thomas V Fernandez, Jeremy M Baskin, Murim Choi, Li Liu, Adife Gulhan Ercan-Sencicek, John D Murdoch, Lambertus Klei, Benjamin M Neale, Daniel Franjic, Mark J Daly, Richard P Lifton, Pietro De Camilli, Hongyu Zhao, Nenad Šestan, Matthew W State
Default mode network in young male adults with autism spectrum disorder: relationship with autism spectrum traits
Minyoung Jung, Hirotaka Kosaka, Daisuke N Saito, Makoto Ishitobi, Tomoyo Morita, Keisuke Inohara, Mizuki Asano, Sumiyoshi Arai, Toshio Munesue, Akemi Tomoda, Yuji Wada, Norihiro Sadato, Hidehiko Okazawa, Tetsuya Iidaka
Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders
Chia-Hsiang Chen, Chia-Chun Huang, Min-Chih Cheng, Yen-Nan Chiu, Wen-Che Tsai, Yu-Yu Wu, Shih-Kai Liu, Susan Shur-Fen Gau
Facing the challenge of teaching emotions to individuals with low- and high-functioning autism using a new Serious game: a pilot study
Sylvie Serret, Stephanie Hun, Galina Iakimova, Jose Lozada, Margarita Anastassova, Andreia Santos, Stephanie Vesperini, Florence Askenazy
Functional autonomic nervous system profile in children with autism spectrum disorder
Azadeh Kushki, Jessica Brian, Annie Dupuis, Evdokia Anagnostou
Integrative proteomic analysis of the NMDA NR1 knockdown mouse model reveals effects on central and peripheral pathways associated with schizophrenia and autism spectrum disorders
Hendrik Wesseling, Paul C Guest, Chi-Ming Lee, Erik HF Wong, Hassan Rahmoune, Sabine Bahn
The latent structure of cognitive and emotional empathy in individuals with autism, first-degree relatives and typical individuals
Rachel Grove, Andrew Baillie, Carrie Allison, Simon Baron-Cohen, Rosa A Hoekstra
Proteomic analysis of post mortem brain tissue from autism patients: evidence for opposite changes in prefrontal cortex and cerebellum in synaptic connectivity-related proteins
Jantine AC Broek, Paul C Guest, Hassan Rahmoune, Sabine Bahn
Serum microRNA profiles in children with autism
Mahesh Mundalil Vasu, Ayyappan Anitha, Ismail Thanseem, Katsuaki Suzuki, Kohei Yamada, Taro Takahashi, Tomoyasu Wakuda, Keiko Iwata, Masatsugu Tsujii, Toshirou Sugiyama, Norio Mori
Ubiquitin-proteasome dependent degradation of GABAAα1 in autism spectrum disorder
Amanda Crider, Chirayu D Pandya, Diya Peter, Anthony O Ahmed, Anilkumar Pillai
Dysregulation of estrogen receptor beta (ERβ), aromatase (CYP19A1), and ER co-activators in the middle frontal gyrus of autism spectrum disorder subjects
Amanda Crider, Roshni Thakkar, Anthony O Ahmed, Anilkumar Pillai
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses
Joseph D Buxbaum, Nadia Bolshakova, Jessica M Brownfeld, Richard JL Anney, Patrick Bender, Raphael Bernier, Edwin H Cook, Hilary Coon, Michael Cuccaro, Christine M Freitag, Joachim Hallmayer, Daniel Geschwind, Sabine M Klauck, John I Nurnberger, Guiomar Oliveira, Dalila Pinto, Fritz Poustka, Stephen W Scherer, Andy Shih, James S Sutcliffe, Peter Szatmari, Astrid M Vicente, Veronica Vieland, Louise Gallagher
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome
Agnese Di Napoli, Varun Warrier, Simon Baron-Cohen, Bhismadev Chakrabarti
The role of mirroring and mentalizing networks in mediating action intentions in autism
Lauren E Libero, Jose O Maximo, Hrishikesh D Deshpande, Laura G Klinger, Mark R Klinger, Rajesh K Kana
Reduced beta connectivity during emotional face processing in adolescents with autism
Rachel C Leung, Annette X Ye, Simeon M Wong, Margot J Taylor, Sam M Doesburg
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene
Dea Adamsen, Vincent Ramaekers, Horace TB Ho, Corinne Britschgi, Véronique Rüfenacht, David Meili, Elise Bobrowski, Paule Philippe, Caroline Nava, Lionel Van Maldergem, Rémy Bruggmann, Susanne Walitza, Joanne Wang, Edna Grünblatt, Beat Thöny
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
Noelle D Germain, Pin-Fang Chen, Alex M Plocik, Heather Glatt-Deeley, Judith Brown, James J Fink, Kaitlyn A Bolduc, Tiwanna M Robinson, Eric S Levine, Lawrence T Reiter, Brenton R Graveley, Marc Lalande, Stormy J Chamberlain
Saccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem
Lauren M Schmitt, Edwin H Cook, John A Sweeney, Matthew W Mosconi
Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects
Shabeesh Balan, Yoshimi Iwayama, Motoko Maekawa, Tomoko Toyota, Tetsuo Ohnishi, Manabu Toyoshima, Chie Shimamoto, Kayoko Esaki, Kazuo Yamada, Yasuhide Iwata, Katsuaki Suzuki, Masayuki Ide, Motonori Ota, Satoshi Fukuchi, Masatsugu Tsujii, Norio Mori, Yoichi Shinkai, Takeo Yoshikawa
Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10
Lina Jonsson, Anna Zettergren, Erik Pettersson, Daniel Hovey, Henrik Anckarsäter, Lars Westberg, Paul Lichtenstein, Sebastian Lundström, Jonas Melke
An examination of autism spectrum traits in adolescents with anorexia nervosa and their parents
Charlotte Rhind, Elena Bonfioli, Rebecca Hibbs, Elizabeth Goddard, Pamela Macdonald, Simon Gowers, Ulrike Schmidt, Kate Tchanturia, Nadia Micali, Janet Treasure
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome
Alexander Kolevzon, Lauren Bush, A Ting Wang, Danielle Halpern, Yitzchak Frank, David Grodberg, Robert Rapaport, Teresa Tavassoli, William Chaplin, Latha Soorya, Joseph D Buxbaum
Statistical analysis of twenty years (1993 to 2012) of data from mainland China’s first intervention center for children with autism spectrum disorder
Wei-Zhen Zhou, Adam Yongxin Ye, Zhong-Kai Sun, Hope Huiping Tian, Tad Zhengzhang Pu, Yu-Yu Wu, Dan-Dan Wang, Ming-Zhen Zhao, Shu-Juan Lu, Chang-Hong Yang, Liping Wei
Enhanced olfactory sensitivity in autism spectrum conditions
Chris Ashwin, Emma Chapman, Jessica Howells, Danielle Rhydderch, Ian Walker, Simon Baron-Cohen
Mapk/Erk activation in an animal model of social deficits shows a possible link to autism
Alireza Faridar, Dorothy Jones-Davis, Eric Rider, Jiang Li, Ilan Gobius, Laura Morcom, Linda J Richards, Saunak Sen, Elliott H Sherr
Altered glial marker expression in autistic post-mortem prefrontal cortex and cerebellum
Catherine Edmonson, Mark N Ziats, Owen M Rennert
DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics
Li Liu, Jing Lei, Stephan J Sanders, Arthur Jeremy Willsey, Yan Kou, Abdullah Ercument Cicek, Lambertus Klei, Cong Lu, Xin He, Mingfeng Li, Rebecca A Muhle, Avi Ma’ayan, James P Noonan, Nenad Šestan, Kathryn A McFadden, Matthew W State, Joseph D Buxbaum, Bernie Devlin, Kathryn Roeder
Hyperreactivity to weak acoustic stimuli and prolonged acoustic startle latency in children with autism spectrum disorders
Hidetoshi Takahashi, Takayuki Nakahachi, Sahoko Komatsu, Kazuo Ogino, Yukako Iida, Yoko Kamio
Transcriptomic changes in the frontal cortex associated with paternal age
Rebecca G Smith, Cathy Fernandes, Rachel Kember, Leonard C Schalkwyk, Joseph Buxbaum, Abraham Reichenberg, Jonathan Mill