Literature DB >> 31206741

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.

Steven U Walkley1, Leonard Abbeduto2, Mark L Batshaw3, Anita Bhattacharyya4, Susan Y Bookheimer5, Bradley T Christian6, John N Constantino7, Jean de Vellis5, Daniel A Doherty8, David L Nelson9, Joseph Piven10, Annapurna Poduri11, Scott L Pomeroy11, Rodney C Samaco9, Huda Y Zoghbi9, Michael J Guralnick12.   

Abstract

Progress in addressing the origins of intellectual and developmental disabilities accelerated with the establishment 50 years ago of the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health and associated Intellectual and Developmental Disabilities Research Centers. Investigators at these Centers have made seminal contributions to understanding human brain and behavioral development and defining mechanisms and treatments of disorders of the developing brain. ANN NEUROL 2019;86:332-343.
© 2019 American Neurological Association.

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Year:  2019        PMID： 31206741      PMCID： PMC8320680          DOI： 10.1002/ana.25531

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  97 in total

Review 1.  Down syndrome: cognitive phenotype.

Authors:  Wayne Silverman
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2007

2.  Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Authors:  J G Gleeson; K M Allen; J W Fox; E D Lamperti; S Berkovic; I Scheffer; E C Cooper; W B Dobyns; S R Minnerath; M E Ross; C A Walsh
Journal:  Cell       Date:  1998-01-09       Impact factor: 41.582

3.  Enhancing the outcomes of low-birth-weight, premature infants. A multisite, randomized trial. The Infant Health and Development Program.

Authors: 
Journal:  JAMA       Date:  1990-06-13       Impact factor: 56.272

4.  Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome.

Authors:  Alexander Pyronneau; Qionger He; Jee-Yeon Hwang; Morgan Porch; Anis Contractor; R Suzanne Zukin
Journal:  Sci Signal       Date:  2017-11-07       Impact factor: 8.192

5.  A mouse model for Down syndrome exhibits learning and behaviour deficits.

Authors:  R H Reeves; N G Irving; T H Moran; A Wohn; C Kitt; S S Sisodia; C Schmidt; R T Bronson; M T Davisson
Journal:  Nat Genet       Date:  1995-10       Impact factor: 38.330

Review 6.  The twitcher mouse: a model for Krabbe disease and for experimental therapies.

Authors:  K Suzuki; K Suzuki
Journal:  Brain Pathol       Date:  1995-07       Impact factor: 6.508

7.  Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies.

Authors:  S Goldfischer; J Collins; I Rapin; B Coltoff-Schiller; C H Chang; M Nigro; V H Black; N B Javitt; H W Moser; P B Lazarow
Journal:  Science       Date:  1985-01-04       Impact factor: 47.728

8.  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Authors:  Jean-Baptiste Rivière; Ghayda M Mirzaa; Brian J O'Roak; Margaret Beddaoui; Diana Alcantara; Robert L Conway; Judith St-Onge; Jeremy A Schwartzentruber; Karen W Gripp; Sarah M Nikkel; Thea Worthylake; Christopher T Sullivan; Thomas R Ward; Hailly E Butler; Nancy A Kramer; Beate Albrecht; Christine M Armour; Linlea Armstrong; Oana Caluseriu; Cheryl Cytrynbaum; Beth A Drolet; A Micheil Innes; Julie L Lauzon; Angela E Lin; Grazia M S Mancini; Wendy S Meschino; James D Reggin; Anand K Saggar; Tally Lerman-Sagie; Gökhan Uyanik; Rosanna Weksberg; Birgit Zirn; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Jay Shendure; John M Graham; Kym M Boycott; William B Dobyns
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

9.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Authors:  Brian J O'Roak; Laura Vives; Santhosh Girirajan; Emre Karakoc; Niklas Krumm; Bradley P Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D Smith; Emily H Turner; Ian B Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M Akey; Elhanan Borenstein; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Jay Shendure; Evan E Eichler
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

10.  Intranasal epidermal growth factor treatment rescues neonatal brain injury.

Authors:  Joseph Scafidi; Timothy R Hammond; Susanna Scafidi; Jonathan Ritter; Beata Jablonska; Maria Roncal; Klara Szigeti-Buck; Daniel Coman; Yuegao Huang; Robert J McCarter; Fahmeed Hyder; Tamas L Horvath; Vittorio Gallo
Journal:  Nature       Date:  2013-12-25       Impact factor: 49.962
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