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Results: 1 to 20 of 129

1.

Schizophrenia-risk variant rs6994992 in the neuregulin-1 gene on brain developmental trajectories in typically developing children.

Douet V, Chang L, Pritchett A, Lee K, Keating B, Bartsch H, Jernigan TL, Dale A, Akshoomoff N, Murray S, Bloss C, Kennedy DN, Amaral D, Gruen J, Kaufmann WE, Casey BJ, Sowell E, Ernst T.

Transl Psychiatry. 2014 May 27;4:e392. doi: 10.1038/tp.2014.41.

PMID:
24865593
[PubMed - in process]
Free PMC Article
2.

Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey.

Talisa VB, Boyle L, Crafa D, Kaufmann WE.

Am J Med Genet A. 2014 May;164A(5):1198-203. doi: 10.1002/ajmg.a.36468. Epub 2014 Mar 24.

PMID:
24664669
[PubMed - in process]
3.

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.

Khwaja OS, Ho E, Barnes KV, O'Leary HM, Pereira LM, Finkelstein Y, Nelson CA 3rd, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE.

Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):4596-601. doi: 10.1073/pnas.1311141111. Epub 2014 Mar 12.

PMID:
24623853
[PubMed - indexed for MEDLINE]
4.

Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.

Marschik PB, Bartl-Pokorny KD, Sigafoos J, Urlesberger L, Pokorny F, Didden R, Einspieler C, Kaufmann WE.

Res Dev Disabil. 2014 Mar;35(3):597-602. doi: 10.1016/j.ridd.2014.01.004. Epub 2014 Jan 27.

PMID:
24480609
[PubMed - in process]
5.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

PMID:
24399845
[PubMed - in process]
6.

MeCP2 deficiency enhances glutamate release through NF-κB signaling in myeloid derived cells.

O'Driscoll CM, Kaufmann WE, Bressler JP.

J Neuroimmunol. 2013 Dec 15;265(1-2):61-7. doi: 10.1016/j.jneuroim.2013.09.002. Epub 2013 Sep 12.

PMID:
24268627
[PubMed - indexed for MEDLINE]
7.

The NIH Toolbox Cognition Battery: results from a large normative developmental sample (PING).

Akshoomoff N, Newman E, Thompson WK, McCabe C, Bloss CS, Chang L, Amaral DG, Casey BJ, Ernst TM, Frazier JA, Gruen JR, Kaufmann WE, Kenet T, Kennedy DN, Libiger O, Mostofsky S, Murray SS, Sowell ER, Schork N, Dale AM, Jernigan TL.

Neuropsychology. 2014 Jan;28(1):1-10. doi: 10.1037/neu0000001. Epub 2013 Nov 11. Erratum in: Neuropsychology. 2014 Mar;28(2):319.

PMID:
24219608
[PubMed - in process]
Free PMC Article
8.

Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

Marschik PB, Bartl-Pokorny KD, Tager-Flusberg H, Kaufmann WE, Pokorny F, Grossmann T, Windpassinger C, Petek E, Einspieler C.

Dev Neurorehabil. 2014 Feb;17(1):34-8. doi: 10.3109/17518423.2013.837537. Epub 2013 Oct 2.

PMID:
24088025
[PubMed - indexed for MEDLINE]
9.

Genome-wide association study of shared components of reading disability and language impairment.

Eicher JD, Powers NR, Miller LL, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst T, Frazier J, Kaufmann WE, Keating B, Kenet T, Kennedy D, Mostofsky S, Murray SS, Sowell ER, Bartsch H, Kuperman JM, Brown TT, Hagler DJ Jr, Dale AM, Jernigan TL, St Pourcain B, Davey Smith G, Ring SM, Gruen JR; Pediatric Imaging, Neurocognition, and Genetics Study.

Genes Brain Behav. 2013 Nov;12(8):792-801. doi: 10.1111/gbb.12085. Epub 2013 Oct 9.

PMID:
24024963
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Measuring cell-type specific differential methylation in human brain tissue.

Montaño CM, Irizarry RA, Kaufmann WE, Talbot K, Gur RE, Feinberg AP, Taub MA.

Genome Biol. 2013 Aug 30;14(8):R94. doi: 10.1186/gb-2013-14-8-r94.

PMID:
24000956
[PubMed - in process]
Free PMC Article
11.

Common DNA methylation alterations in multiple brain regions in autism.

Ladd-Acosta C, Hansen KD, Briem E, Fallin MD, Kaufmann WE, Feinberg AP.

Mol Psychiatry. 2014 Aug;19(8):862-71. doi: 10.1038/mp.2013.114. Epub 2013 Sep 3.

PMID:
23999529
[PubMed - in process]
12.

Automated MRI parcellation of the frontal lobe.

Ranta ME, Chen M, Crocetti D, Prince JL, Subramaniam K, Fischl B, Kaufmann WE, Mostofsky SH.

Hum Brain Mapp. 2014 May;35(5):2009-26. doi: 10.1002/hbm.22309. Epub 2013 Jul 29.

PMID:
23897577
[PubMed - in process]
13.

Early socio-communicative forms and functions in typical Rett syndrome.

Bartl-Pokorny KD, Marschik PB, Sigafoos J, Tager-Flusberg H, Kaufmann WE, Grossmann T, Einspieler C.

Res Dev Disabil. 2013 Oct;34(10):3133-8. doi: 10.1016/j.ridd.2013.06.040. Epub 2013 Jul 24.

PMID:
23891731
[PubMed - indexed for MEDLINE]
14.

Changing the perspective on early development of Rett syndrome.

Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV.

Res Dev Disabil. 2013 Apr;34(4):1236-9. doi: 10.1016/j.ridd.2013.01.014. Epub 2013 Feb 9.

PMID:
23400005
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Long-term influence of normal variation in neonatal characteristics on human brain development.

Walhovd KB, Fjell AM, Brown TT, Kuperman JM, Chung Y, Hagler DJ Jr, Roddey JC, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst TM, Frazier J, Gruen JR, Kaufmann WE, Murray SS, van Zijl P, Mostofsky S, Dale AM; Pediatric Imaging, Neurocognition, and Genetics Study.

Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20089-94. doi: 10.1073/pnas.1208180109. Epub 2012 Nov 19.

PMID:
23169628
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Multimodal imaging of the self-regulating developing brain.

Fjell AM, Walhovd KB, Brown TT, Kuperman JM, Chung Y, Hagler DJ Jr, Venkatraman V, Roddey JC, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Darst BF, Schork NJ, Casey BJ, Chang L, Ernst TM, Gruen JR, Kaufmann WE, Kenet T, Frazier J, Murray SS, Sowell ER, van Zijl P, Mostofsky S, Jernigan TL, Dale AM; Pediatric Imaging, Neurocognition, and Genetics Study.

Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19620-5. doi: 10.1073/pnas.1208243109. Epub 2012 Nov 12.

PMID:
23150548
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Newborn, carrier, and early childhood screening recommendations for fragile X.

Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E.

Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Review.

PMID:
23129072
[PubMed - indexed for MEDLINE]
Free Article
18.

Relationship between Mecp2 and NFκb signaling during neural differentiation of P19 cells.

O'Driscoll C, Kaufmann WE, Bressler J.

Brain Res. 2013 Jan 15;1490:35-42. doi: 10.1016/j.brainres.2012.10.041. Epub 2012 Nov 2.

PMID:
23123205
[PubMed - indexed for MEDLINE]
19.

Neuroanatomical assessment of biological maturity.

Brown TT, Kuperman JM, Chung Y, Erhart M, McCabe C, Hagler DJ Jr, Venkatraman VK, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, Kaufmann WE, Kenet T, Kennedy DN, Murray SS, Sowell ER, Jernigan TL, Dale AM.

Curr Biol. 2012 Sep 25;22(18):1693-8. doi: 10.1016/j.cub.2012.07.002. Epub 2012 Aug 16.

PMID:
22902750
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome.

Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J.

Res Dev Disabil. 2012 Nov-Dec;33(6):1749-56. doi: 10.1016/j.ridd.2012.04.012. Epub 2012 Jun 13.

PMID:
22699249
[PubMed - indexed for MEDLINE]
Free PMC Article

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