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  1. Content type: Research

    Reelin plays a pivotal role in neurodevelopment and in post-natal synaptic plasticity and has been implicated in the pathogenesis of autism spectrum disorder (ASD). The reelin (RELN) gene expression is significan...

    Authors: Carla Lintas, Roberto Sacco and Antonio M. Persico

    Citation: Journal of Neurodevelopmental Disorders 2016 8:18

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  2. Content type: Research

    Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behaviour...

    Authors: Renée J. Zwanenburg, Selma A.J. Ruiter, Edwin R. van den Heuvel, Boudien C.T. Flapper and Conny M.A. Van Ravenswaaij-Arts

    Citation: Journal of Neurodevelopmental Disorders 2016 8:16

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  3. Content type: Research

    The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of ...

    Authors: Madita Schumann, Andrea Hofmann, Sophia K. Krutzke, Alina C. Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M. Merz and Heiko Reutter

    Citation: Journal of Neurodevelopmental Disorders 2016 8:11

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  4. Content type: Research

    While autism spectrum disorder (ASD) is characterized by both social communication deficits and restricted and repetitive patterns of behavior and interest, literature examining possible neural bases of the la...

    Authors: Jennifer H. Foss-Feig, Rankin W. McGugin, Isabel Gauthier, Lisa E. Mash, Pamela Ventola and Carissa J. Cascio

    Citation: Journal of Neurodevelopmental Disorders 2016 8:15

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  5. Content type: Research

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydr...

    Authors: Audrey Thurm, Elaine Tierney, Cristan Farmer, Phebe Albert, Lisa Joseph, Susan Swedo, Simona Bianconi, Irena Bukelis, Courtney Wheeler, Geeta Sarphare, Diane Lanham, Christopher A. Wassif and Forbes D. Porter

    Citation: Journal of Neurodevelopmental Disorders 2016 8:12

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  6. Content type: Research

    Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathwa...

    Authors: Angelika Mühlebner, Anand M. Iyer, Jackelien van Scheppingen, Jasper J. Anink, Floor E. Jansen, Tim J. Veersema, Kees P. Braun, Wim G. M. Spliet, Wim van Hecke, Figen Söylemezoğlu, Martha Feucht, Pavel Krsek, Josef Zamecnik, Christian G. Bien, Tilman Polster, Roland Coras…

    Citation: Journal of Neurodevelopmental Disorders 2016 8:9

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  7. Content type: Research

    22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions (EF) are reported as a relative weakness in this...

    Authors: Johanna Maeder, Maude Schneider, Mathilde Bostelmann, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Marie Schaer and Stephan Eliez

    Citation: Journal of Neurodevelopmental Disorders 2016 8:10

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  8. Content type: Research

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1 % of the population and close to 20 % of prospectively studied infants with an older sibling with ASD. Although signific...

    Authors: E. J. H. Jones, K. Venema, R. Earl, R. Lowy, K. Barnes, A. Estes, G. Dawson and S. J. Webb

    Citation: Journal of Neurodevelopmental Disorders 2016 8:7

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  9. Content type: Research

    Mouse models offer an essential tool to unravel the impact of genetic mutations on autism-related phenotypes. The behavioral impact of some important candidate gene models for autism spectrum disorder (ASD) ha...

    Authors: Remco T. Molenhuis, Hilgo Bruining, Esther Remmelink, Leonie de Visser, Maarten Loos, J. Peter H. Burbach and Martien J. H. Kas

    Citation: Journal of Neurodevelopmental Disorders 2016 8:6

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  10. Content type: Research

    Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by deletion or mutation in the SHANK3 gene, is one of the more common single-locus causes of autism spectrum disorder (ASD). PMS is characteriz...

    Authors: A. Ting Wang, Teresa Lim, Jesslyn Jamison, Lauren Bush, Latha V. Soorya, Teresa Tavassoli, Paige M. Siper, Joseph D. Buxbaum and Alexander Kolevzon

    Citation: Journal of Neurodevelopmental Disorders 2016 8:5

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    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2016 8:8

  11. Content type: Research

    The DYX5 locus for developmental dyslexia was mapped to chromosome 3 by linkage study of a large Finnish family, and later, roundabout guidance receptor 1 (ROBO1) was implicated as a candidate gene at DYX5 with s...

    Authors: Satu Massinen, Jingwen Wang, Krista Laivuori, Andrea Bieder, Isabel Tapia Paez, Hong Jiao and Juha Kere

    Citation: Journal of Neurodevelopmental Disorders 2016 8:4

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  12. Content type: Research

    22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with deficits in neuropsychological functioning and psychiatric disorders. This deletion confers a high risk for the development of ps...

    Authors: Leah M. Mattiaccio, Ioana L. Coman, Matthew J. Schreiner, Kevin M. Antshel, Wanda P. Fremont, Carrie E. Bearden and Wendy R. Kates

    Citation: Journal of Neurodevelopmental Disorders 2016 8:2

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  13. Content type: Research

    A phase II randomized, placebo-controlled, double-blind study and subsequent open-label extension study evaluated the efficacy, safety, and tolerability of mavoglurant (AFQ056), a selective metabotropic glutam...

    Authors: Donald B. Bailey Jr., Elizabeth Berry-Kravis, Anne Wheeler, Melissa Raspa, Florence Merrien, Javier Ricart, Barbara Koumaras, Gerd Rosenkranz, Mark Tomlinson, Florian von Raison and George Apostol

    Citation: Journal of Neurodevelopmental Disorders 2015 8:1

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  14. Content type: Research

    Individuals with Down syndrome (DS) and individuals with Williams syndrome (WS) have poor navigation skills, which impact their potential to become independent. Two aspects of navigation were investigated in t...

    Authors: Emily K. Farran, Harry R. M. Purser, Yannick Courbois, Marine Ballé, Pascal Sockeel, Daniel Mellier and Mark Blades

    Citation: Journal of Neurodevelopmental Disorders 2015 7:37

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  15. Content type: Research

    Internationally adopted children have often experienced early adversity and growth suppression as a consequence of institutional care. Furthermore, these children are at risk for impaired cognitive development...

    Authors: Maria G. Kroupina, Judith K. Eckerle, Anita J. Fuglestad, Liza Toemen, Stephanie Moberg, John H. Himes, Bradley S. Miller, Anna Petryk and Dana E. Johnson

    Citation: Journal of Neurodevelopmental Disorders 2015 7:36

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  16. Content type: Research

    Our laboratory discovered that the gene encoding the receptor tyrosine kinase, MET, contributes to autism risk. Expression of MET is reduced in human postmortem temporal lobe in autism and Rett Syndrome. Subseque...

    Authors: Barbara L. Thompson and Pat Levitt

    Citation: Journal of Neurodevelopmental Disorders 2015 7:35

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  17. Content type: Research

    Altered sensory sensitivity is generally linked to seizure-susceptibility in childhood epilepsy but may also be associated to the highly prevalent problems in behavioral adaptation. This association is further...

    Authors: Jolien S. van Campen, Floor E. Jansen, Nienke J. Kleinrensink, Marian Joëls, Kees PJ Braun and Hilgo Bruining

    Citation: Journal of Neurodevelopmental Disorders 2015 7:34

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  18. Content type: Research

    Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in...

    Authors: Stephan CJ Huijbregts, Marisa Loitfelder, Serge A Rombouts, Hanna Swaab, Berit M Verbist, Enrico B Arkink, Mark A Van Buchem and Ilya M Veer

    Citation: Journal of Neurodevelopmental Disorders 2015 7:32

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  19. Content type: Research

    Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD ...

    Authors: Charlotte Tye, Teresa Farroni, Ágnes Volein, Evelyne Mercure, Leslie Tucker, Mark H. Johnson and Patrick F. Bolton

    Citation: Journal of Neurodevelopmental Disorders 2015 7:33

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  20. Content type: Research

    Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on comm...

    Authors: Katherine V. Barnes, Francesca R. Coughlin, Heather M. O’Leary, Natalie Bruck, Grace A. Bazin, Emily B. Beinecke, Alexandra C. Walco, Nicole G. Cantwell and Walter E. Kaufmann

    Citation: Journal of Neurodevelopmental Disorders 2015 7:30

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  21. Content type: Research

    Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm fu...

    Authors: Rachel A. Mumford, Louise V. Mahon, Simon Jones, Brian Bigger, Maria Canal and Dougal Julian Hare

    Citation: Journal of Neurodevelopmental Disorders 2015 7:31

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  22. Content type: Research

    While it is now recognized that autism spectrum disorder (ASD) is typically a life-long condition, there exist only a handful of systematic studies on middle-aged and older adults with this condition.

    Authors: Sergio Starkstein, Scott Gellar, Morgan Parlier, Leslie Payne and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2015 7:29

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  23. Content type: Research

    Developmental stuttering is a multi-factorial disorder. Measures of neural activity while children processed the phonological (language sound unit) properties of words have revealed neurodevelopmental differen...

    Authors: Ranjini Mohan and Christine Weber

    Citation: Journal of Neurodevelopmental Disorders 2015 7:28

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  24. Content type: Research

    Recent studies link autism spectrum disorders (ASD) with an altered balance between excitation and inhibition (E/I balance) in cortical networks. The brain oscillations in high gamma-band (50–120 Hz) are sensi...

    Authors: Tatiana A. Stroganova, Anna V. Butorina, Olga V. Sysoeva, Andrey O. Prokofyev, Anastasia Yu. Nikolaeva, Marina M. Tsetlin and Elena V. Orekhova

    Citation: Journal of Neurodevelopmental Disorders 2015 7:21

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  25. Content type: Research

    Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been sug...

    Authors: Jie Hu, Jun Liao, Malini Sathanoori, Sally Kochmar, Jessica Sebastian, Svetlana A. Yatsenko and Urvashi Surti

    Citation: Journal of Neurodevelopmental Disorders 2015 7:26

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  26. Content type: Research

    The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fM...

    Authors: Maria Carmela Padula, Marie Schaer, Elisa Scariati, Maude Schneider, Dimitri Van De Ville, Martin Debbané and Stephan Eliez

    Citation: Journal of Neurodevelopmental Disorders 2015 7:23

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  27. Content type: Research

    Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetica...

    Authors: Hayley Crawford, Joanna Moss, Joseph P. McCleery, Giles M. Anderson and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2015 7:22

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  28. Content type: Research

    Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little i...

    Authors: Caitlin M. Hudac, Anna Kresse, Benjamin Aaronson, Trent D. DesChamps, Sara Jane Webb and Raphael A. Bernier

    Citation: Journal of Neurodevelopmental Disorders 2015 7:25

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  29. Content type: Research

    To delineate the early progression of autism spectrum disorder (ASD) symptoms, this study investigated developmental characteristics of infants at high familial risk for ASD (HR), and infants at low risk (LR).

    Authors: Annette Estes, Lonnie Zwaigenbaum, Hongbin Gu, Tanya St. John, Sarah Paterson, Jed T. Elison, Heather Hazlett, Kelly Botteron, Stephen R. Dager, Robert T. Schultz, Penelope Kostopoulos, Alan Evans, Geraldine Dawson, Jordana Eliason, Shanna Alvarez and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2015 7:24

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  30. Content type: Research

    Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the stu...

    Authors: Liisa E. Paavola, Anne M. Remes, Marika J. Harila, Tarja T. Varho, Tapio T. Korhonen and Kari Majamaa

    Citation: Journal of Neurodevelopmental Disorders 2015 7:20

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  31. Content type: Research

    A subgroup of young children with autism spectrum disorders (ASD) have significant language impairments (phonology, grammar, vocabulary), although such impairments are not considered to be core symptoms of and...

    Authors: Alison Presmanes Hill, Jan van Santen, Kyle Gorman, Beth Hoover Langhorst and Eric Fombonne

    Citation: Journal of Neurodevelopmental Disorders 2015 7:19

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  32. Content type: Research

    Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits,...

    Authors: Esha S. L. Jamnadass, Jeffrey A. Keelan, Lauren P. Hollier, Martha Hickey, Murray T. Maybery and Andrew J. O. Whitehouse

    Citation: Journal of Neurodevelopmental Disorders 2015 7:17

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  33. Content type: Research

    The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural r...

    Authors: Jeffrey S. Anderson, Scott M. Treiman, Michael A. Ferguson, Jared A. Nielsen, Jamie O. Edgin, Li Dai, Guido Gerig and Julie R. Korenberg

    Citation: Journal of Neurodevelopmental Disorders 2015 7:15

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  34. Content type: Erratum

    Citation: Journal of Neurodevelopmental Disorders 2015 7:16

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    The original article was published in Journal of Neurodevelopmental Disorders 2012 4:3

  35. Content type: Research

    In a recent study, Bejerot et al. observed that several physical features (including faces) of individuals with an autism spectrum disorder (ASD) were more androgynous than those of their typically developed coun...

    Authors: Syed Zulqarnain Gilani, Diana Weiting Tan, Suzanna N Russell-Smith, Murray T Maybery, Ajmal Mian, Peter R Eastwood, Faisal Shafait, Mithran Goonewardene and Andrew JO Whitehouse

    Citation: Journal of Neurodevelopmental Disorders 2015 7:14

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  36. Content type: Erratum

    Authors: Deborah A Hall, Rachael C Birch, Mathieu Anheim, Aia E Jønch, Elizabeth Pintado, Joan A O’Keefe, Julian N Trollor, Glenn T Stebbins, Randi J Hagerman, Stanley Fahn, Elizabeth Berry-Kravis and Maureen A Leehey

    Citation: Journal of Neurodevelopmental Disorders 2015 7:13

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    The original article was published in Journal of Neurodevelopmental Disorders 2014 6:31

  37. Content type: Research

    Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largel...

    Authors: Cara R Damiano, Dillon C Cockrell, Kaitlyn Dunlap, Eleanor K Hanna, Stephanie Miller, Joshua Bizzell, Megan Kovac, Lauren Turner-Brown, John Sideris, Jessica Kinard and Gabriel S Dichter

    Citation: Journal of Neurodevelopmental Disorders 2015 7:12

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  38. Content type: Research

    Alcohol-related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD). Diagnosis of ARND is difficult because individuals do not demonstrate the characteristic f...

    Authors: Carrie R O’Conaill, Krisztina L Malisza, Joan L Buss, R Bruce Bolster, Christine Clancy, Patricia Dreessen de Gervai, Albert E Chudley and Sally Longstaffe

    Citation: Journal of Neurodevelopmental Disorders 2015 7:10

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  39. Content type: Research

    The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast g...

    Authors: Rina Cianfaglione, Angus Clarke, Michael Kerr, Richard P Hastings, Chris Oliver, Jo Moss, Mary Heald and David Felce

    Citation: Journal of Neurodevelopmental Disorders 2015 7:11

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  40. Content type: Research

    Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with inte...

    Authors: Elisabeth M Dykens, Bhavik Shah, Bruce Davis, Courtney Baker, Taylor Fife and Jeri Fitzpatrick

    Citation: Journal of Neurodevelopmental Disorders 2015 7:9

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  41. Content type: Research

    Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However,...

    Authors: Kate Baker, Gaia Scerif, Duncan E Astle, Paul C Fletcher and F Lucy Raymond

    Citation: Journal of Neurodevelopmental Disorders 2015 7:8

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  42. Content type: Research

    New competencies may be learned through active experience (learning by doing) or observation of others’ experience (learning by observation). Observing another person performing a complex action accelerates th...

    Authors: Francesca Foti, Deny Menghini, Enzo Orlandi, Cristina Rufini, Antonino Crinò, Sabrina Spera, Stefano Vicari, Laura Petrosini and Laura Mandolesi

    Citation: Journal of Neurodevelopmental Disorders 2015 7:6

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  43. Content type: Research

    Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a...

    Authors: Marie Moore Channell, B Allyson Phillips, Susan J Loveall, Frances A Conners, Paige M Bussanich and Laura Grofer Klinger

    Citation: Journal of Neurodevelopmental Disorders 2015 7:5

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