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  1. Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile ...

    Authors: Anne C Wheeler, Donald B Bailey Jr, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M Olichney, Laia Rodriguez-Revenga, Stephanie Sherman, Leann Smith, Scott Summers, Jin-Chen Yang and Randi Hagerman
    Citation: Journal of Neurodevelopmental Disorders 2014 6:30
  2. The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expressio...

    Authors: Jim Grigsby, Kim Cornish, Darren Hocking, Claudine Kraan, John M Olichney, Susan M Rivera, Andrea Schneider, Stephanie Sherman, Jun Yi Wang and Jin-Chen Yang
    Citation: Journal of Neurodevelopmental Disorders 2014 6:28
  3. The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk...

    Authors: Carolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, Montserrat Naudo, Jordi Genoves, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, Abigail Rupchock, Brenda Finucane, Gary J Latham, Andrew Hadd, Elizabeth Berry-Kravis and Flora Tassone
    Citation: Journal of Neurodevelopmental Disorders 2014 6:24
  4. Developmental disorders of oral and written language have been linked to deficits in the processing of auditory information. However, findings have been inconsistent, both for behavioural and electrophysiologi...

    Authors: Lorna F Halliday, Johanna G Barry, Mervyn J Hardiman and Dorothy VM Bishop
    Citation: Journal of Neurodevelopmental Disorders 2014 6:21
  5. Early development appears normal in Rett syndrome (OMIM #312750) and may be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History Study (NHS) was to examine achievement of develop...

    Authors: Jeffrey L Neul, Jane B Lane, Hye-Seung Lee, Suzanne Geerts, Judy O Barrish, Fran Annese, Lauren McNair Baggett, Katherine Barnes, Steven A Skinner, Kathleen J Motil, Daniel G Glaze, Walter E Kaufmann and Alan K Percy
    Citation: Journal of Neurodevelopmental Disorders 2014 6:20
  6. Research on the neural bases of cognitive deficits in autism spectrum disorder (ASD) has shown that working memory (WM) difficulties are associated with abnormalities in the prefrontal cortex. However, cogniti...

    Authors: Vanessa M Vogan, Benjamin R Morgan, Wayne Lee, Tamara L Powell, Mary Lou Smith and Margot J Taylor
    Citation: Journal of Neurodevelopmental Disorders 2014 6:19
  7. Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile,...

    Authors: Hannah Broadbent, Emily K Farran, Esther Chin, Kay Metcalfe, May Tassabehji, Peter Turnpenny, Francis Sansbury, Emma Meaburn and Annette Karmiloff-Smith
    Citation: Journal of Neurodevelopmental Disorders 2014 6:18
  8. Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, play...

    Authors: Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D'Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia and Elena Maestrini
    Citation: Journal of Neurodevelopmental Disorders 2014 6:17
  9. Intellectual disability (ID) is characterized by global cognitive deficits, yet the very IQ tests used to assess ID have limited range and precision in this population, especially for more impaired individuals.

    Authors: Stephanie M Sansone, Andrea Schneider, Erika Bickel, Elizabeth Berry-Kravis, Christina Prescott and David Hessl
    Citation: Journal of Neurodevelopmental Disorders 2014 6:16
  10. Gaze processing deficits are a seminal, early, and enduring behavioral deficit in autism spectrum disorder (ASD); however, a comprehensive characterization of the neural processes mediating abnormal gaze proce...

    Authors: Renée Lajiness-O’Neill, Annette E Richard, John E Moran, Amy Olszewski, Lesley Pawluk, Daniel Jacobson, Alfred Mansour, Kelly Vogt, Laszlo A Erdodi, Aimee M Moore and Susan M Bowyer
    Citation: Journal of Neurodevelopmental Disorders 2014 6:15
  11. Individuals with autism are often reported to have difficulty with emotion processing. However, clinical and experimental data show that they are sensitive to familiarity; for example, they show normative atta...

    Authors: Heather J Nuske, Giacomo Vivanti and Cheryl Dissanayake
    Citation: Journal of Neurodevelopmental Disorders 2014 6:14
  12. Christianson syndrome (CS) is an X-linked neurodevelopmental disorder caused by deleterious mutations in SLC9A6. Affected families organized the inaugural Christianson Syndrome Association conference to advance C...

    Authors: David M Stein, Alan Gerber and Eric M Morrow
    Citation: Journal of Neurodevelopmental Disorders 2014 6:13
  13. It is commonly reported that children with autism spectrum disorder (ASD) exhibit hyper-reactivity or hypo-reactivity to sensory stimuli. Electroencephalography (EEG) is commonly used to study neural sensory r...

    Authors: Justin Eldridge, Alison E Lane, Mikhail Belkin and Simon Dennis
    Citation: Journal of Neurodevelopmental Disorders 2014 6:12
  14. Children with early symptomatic psychiatric disorders such as Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) have been found to have high rates of motor and/or perception di...

    Authors: Peik Gustafsson, Nóra Kerekes, Henrik Anckarsäter, Paul Lichtenstein, Christopher Gillberg and Maria Råstam
    Citation: Journal of Neurodevelopmental Disorders 2014 6:11
  15. Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those i...

    Authors: Kate E Eden, Petrus J de Vries, Jo Moss, Caroline Richards and Chris Oliver
    Citation: Journal of Neurodevelopmental Disorders 2014 6:10
  16. The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 prot...

    Authors: Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C Lionel, Christian R Marshall, Andrea K Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W Scherer…
    Citation: Journal of Neurodevelopmental Disorders 2014 6:9
  17. Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes migh...

    Authors: Mary Ellen I Koran, Timothy J Hohman, Courtney M Edwards, Jennifer N Vega, Jennifer R Pryweller, Laura E Slosky, Genea Crockett, Lynette Villa de Rey, Shashwath A Meda, Nathan Dankner, Suzanne N Avery, Jennifer U Blackford, Elisabeth M Dykens and Tricia A Thornton-Wells
    Citation: Journal of Neurodevelopmental Disorders 2014 6:8
  18. During the neurodevelopmental period, the brain is potentially more susceptible to environmental exposure to pollutants. The aim was to determine if neonatal exposure to permethrin (PERM) pesticide, at a low d...

    Authors: Cinzia Nasuti, Patrizia Fattoretti, Manuel Carloni, Donatella Fedeli, Massimo Ubaldi, Roberto Ciccocioppo and Rosita Gabbianelli
    Citation: Journal of Neurodevelopmental Disorders 2014 6:7
  19. Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have p...

    Authors: Thomas H Wassink, Heather C Hazlett, Lea K Davis, Allan L Reiss and Joseph Piven
    Citation: Journal of Neurodevelopmental Disorders 2014 6:6
  20. Chromosome 22q11.2 deletion syndrome (22q11.2DS), fragile X syndrome (FXS), and Turner syndrome (TS) are complex and variable developmental syndromes caused by different genetic abnormalities; yet, they share ...

    Authors: Andrea I Quintero, Elliott A Beaton, Danielle J Harvey, Judith L Ross and Tony J Simon
    Citation: Journal of Neurodevelopmental Disorders 2014 6:5
  21. Neurofibromatosis type 1 (NF1) affects several areas of cognitive function including visual processing and attention. We investigated the neural mechanisms underlying the visual deficits of children and adoles...

    Authors: Maria J Ribeiro, Otília C d’Almeida, Fabiana Ramos, Jorge Saraiva, Eduardo D Silva and Miguel Castelo-Branco
    Citation: Journal of Neurodevelopmental Disorders 2014 6:4
  22. 22q11.2 deletion syndrome (22q11.2DS) is a common neurogenetic syndrome associated with high rates of psychosis. The aims of the present study were to identify the unique temperament traits that characterize c...

    Authors: Yael Schonherz, Maayan Davidov, Ariel Knafo, Hadas Zilkha, Gal Shoval, Gil Zalsman, Amos Frisch, Abraham Weizman and Doron Gothelf
    Citation: Journal of Neurodevelopmental Disorders 2014 6:3
  23. Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loc...

    Authors: Ron Nudel, Nuala H Simpson, Gillian Baird, Anne O’Hare, Gina Conti-Ramsden, Patrick F Bolton, Elizabeth R Hennessy, Anthony P Monaco, Julian C Knight, Bruce Winney, Simon E Fisher and Dianne F Newbury
    Citation: Journal of Neurodevelopmental Disorders 2014 6:1
  24. Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about dev...

    Authors: Akvile Lukoshe, Tonya White, Marcus N Schmidt, Aad van der Lugt and Anita C Hokken-Koelega
    Citation: Journal of Neurodevelopmental Disorders 2013 5:31
  25. Efforts to uncover the risk genotypes associated with the familial nature of autism spectrum disorder (ASD) have had limited success. The study of extended pedigrees, incorporating additional ASD-related pheno...

    Authors: Joseph Piven, Veronica J Vieland, Morgan Parlier, Ann Thompson, Irene O’Conner, Mark Woodbury-Smith, Yungui Huang, Kimberly A Walters, Bridget Fernandez and Peter Szatmari
    Citation: Journal of Neurodevelopmental Disorders 2013 5:30
  26. Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neur...

    Authors: Elizabeth A Worthey, Gordana Raca, Jennifer J Laffin, Brandon M Wilk, Jeremy M Harris, Kathy J Jakielski, David P Dimmock, Edythe A Strand and Lawrence D Shriberg
    Citation: Journal of Neurodevelopmental Disorders 2013 5:29
  27. Eye tracking has the potential to characterize autism at a unique intermediate level, with links ‘down’ to underlying neurocognitive networks, as well as ‘up’ to everyday function and dysfunction. Because it i...

    Authors: Terje Falck-Ytter, Sven Bölte and Gustaf Gredebäck
    Citation: Journal of Neurodevelopmental Disorders 2013 5:28
  28. Originally described as a disorder of childhood, evidence now demonstrates the lifelong nature of autism spectrum disorder (ASD). Despite the increase of the population over age 65, older adults with ASD remai...

    Authors: Dmitry Kats, Leslie Payne, Morgan Parlier and Joseph Piven
    Citation: Journal of Neurodevelopmental Disorders 2013 5:27
  29. Broad autism phenotype (BAP) is a milder expression of the social and communication impairments seen in autism spectrum disorders (ASD). While prior studies characterized the BAP in unaffected family members o...

    Authors: Christina R Maxwell, Julia Parish-Morris, Olivia Hsin, Jennifer C Bush and Robert T Schultz
    Citation: Journal of Neurodevelopmental Disorders 2013 5:25
  30. Autism spectrum disorders (ASD) are a group of complex and heterogeneous developmental disorders involving multiple neural system dysfunctions. In an effort to understand neurophysiological substrates, identif...

    Authors: Jun Wang, Jamie Barstein, Lauren E Ethridge, Matthew W Mosconi, Yukari Takarae and John A Sweeney
    Citation: Journal of Neurodevelopmental Disorders 2013 5:24
  31. Fragile X syndrome is caused by the loss of FMRP expression due to methylation of the FMR1 promoter. Treatment of fragile X syndrome patients’ lymphoblastoid cells with 5-azadeoxycytidine results in demethylation...

    Authors: Cornelia Brendel, Benjamin Mielke, Merle Hillebrand, Jutta Gärtner and Peter Huppke
    Citation: Journal of Neurodevelopmental Disorders 2013 5:23
  32. Intracranial arachnoid cysts have been shown to yield cognitive impairment over a range of basic mental functions, and these functions normalize after surgical cyst decompression. We wanted to investigate whet...

    Authors: Priyanthi B Gjerde, Marit Schmid, Ã…sa Hammar and Knut Wester
    Citation: Journal of Neurodevelopmental Disorders 2013 5:21
  33. The profile of cognitive and behavioral variation observed in individuals with fragile X syndrome (FXS), the most common known cause of inherited intellectual impairment, suggests aberrant functioning of speci...

    Authors: Jennifer Lynn Bruno, Elizabeth Walter Shelly, Eve-Marie Quintin, Maryam Rostami, Sweta Patnaik, Daniel Spielman, Dirk Mayer, Meng Gu, Amy A Lightbody and Allan L Reiss
    Citation: Journal of Neurodevelopmental Disorders 2013 5:20
  34. Down’s syndrome (DS) is the most common genetic cause of intellectual disability. People with DS are at an increased risk of Alzheimer’s disease (AD) compared to the general population. Neuroimaging studies of...

    Authors: Diane Mullins, Eileen Daly, Andrew Simmons, Felix Beacher, Catherine ML Foy, Simon Lovestone, Brian Hallahan, Kieran C Murphy and Declan G Murphy
    Citation: Journal of Neurodevelopmental Disorders 2013 5:19
  35. Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different...

    Authors: Joseba Jauregi, Virginie Laurier, Pierre Copet, Maithé Tauber and Denise Thuilleaux
    Citation: Journal of Neurodevelopmental Disorders 2013 5:18
  36. Adverse intrauterine circumstances can result in abnormal brain development, and can contribute to many neurological disorders such as cerebral palsy and cognitive and behavioral deficits. These neurological p...

    Authors: Keumyoung So, Yoonyoung Chung, Hyunyoung Lee, Eunyoung Kim and Yonghyun Jeon
    Citation: Journal of Neurodevelopmental Disorders 2013 5:17
  37. The dimensional approach to autism spectrum disorder (ASD) considers ASD as the extreme of a dimension traversing through the entire population. We explored the potential utility of electroencephalography (EEG...

    Authors: Pablo Barttfeld, Lucía Amoruso, Joaquín Ais, Sebastián Cukier, Luz Bavassi, Ailin Tomio, Facundo Manes, Agustín Ibanez and Mariano Sigman
    Citation: Journal of Neurodevelopmental Disorders 2013 5:16
  38. Several proteins involved in epigenetic regulation cause syndromic neurodevelopmental disorders when human genes are mutated. More general involvement of epigenetic mechanisms in neurodevelopmental phenotypes ...

    Authors: Kimberly A Aldinger, Jasmine T Plummer and Pat Levitt
    Citation: Journal of Neurodevelopmental Disorders 2013 5:15
  39. Working memory is a temporary storage system under attentional control. It is believed to play a central role in online processing of complex cognitive information and may also play a role in social cognition ...

    Authors: Evelien M Barendse, Marc PH Hendriks, Jacobus FA Jansen, Walter H Backes, Paul AM Hofman, Geert Thoonen, Roy PC Kessels and Albert P Aldenkamp
    Citation: Journal of Neurodevelopmental Disorders 2013 5:14
  40. From a young age the typical development of social functioning relies upon the allocation of attention to socially relevant information, which in turn allows experience at processing such information and thus ...

    Authors: Deborah M Riby, Peter JB Hancock, Nicola Jones and Mary Hanley
    Citation: Journal of Neurodevelopmental Disorders 2013 5:13
  41. Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stere...

    Authors: Jason J Wolff, Heather C Hazlett, Amy A Lightbody, Allan L Reiss and Joseph Piven
    Citation: Journal of Neurodevelopmental Disorders 2013 5:12
  42. Features of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the p...

    Authors: Noah J Sasson, Kristen SL Lam, Morgan Parlier, Julie L Daniels and Joseph Piven
    Citation: Journal of Neurodevelopmental Disorders 2013 5:11
  43. Death receptor 6 (DR6) is highly expressed in the human brain: it has been shown to induce axon pruning and neuron death via distinct caspases and to mediate axonal degeneration through binding to N-terminal β...

    Authors: Anand Iyer, Jackelien van Scheppingen, Jasper Anink, Ivan Milenkovic, Gabor G Kovács and Eleonora Aronica
    Citation: Journal of Neurodevelopmental Disorders 2013 5:10
  44. Minocycline is a tetracycline derivative that readily crosses the blood brain barrier and appears to have beneficial effects on neuroinflammation, microglial activation and neuroprotection in a variety of neur...

    Authors: Carlos A Pardo, Ashura Buckley, Audrey Thurm, Li-Ching Lee, Arun Azhagiri, David M Neville and Susan E Swedo
    Citation: Journal of Neurodevelopmental Disorders 2013 5:9
  45. Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder char...

    Authors: Gabi Schutzius, Dorothee Bleckmann, Sandra Kapps-Fouthier, Francesco di Giorgio, Bernd Gerhartz and Andreas Weiss
    Citation: Journal of Neurodevelopmental Disorders 2013 5:8

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