Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 150

1.

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL.

Genet Med. 2016 May 12. doi: 10.1038/gim.2016.42. [Epub ahead of print]

PMID:
27171548
2.

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.

Killian JT Jr, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Pediatr Neurol. 2016 May;58:67-74. doi: 10.1016/j.pediatrneurol.2015.12.021. Epub 2016 Jan 11.

PMID:
26995066
3.

Detecting autonomic response to pain in Rett syndrome.

O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE.

Dev Neurorehabil. 2015 Oct 12:1-7. [Epub ahead of print]

PMID:
26457613
4.

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales.

Barnes KV, Coughlin FR, O'Leary HM, Bruck N, Bazin GA, Beinecke EB, Walco AC, Cantwell NG, Kaufmann WE.

J Neurodev Disord. 2015;7(1):30. doi: 10.1186/s11689-015-9127-4. Epub 2015 Sep 15.

5.

Visual evoked potentials detect cortical processing deficits in Rett syndrome.

LeBlanc JJ, DeGregorio G, Centofante E, Vogel-Farley VK, Barnes K, Kaufmann WE, Fagiolini M, Nelson CA.

Ann Neurol. 2015 Nov;78(5):775-86. doi: 10.1002/ana.24513. Epub 2015 Sep 18.

PMID:
26332183
6.

Medical and ethical challenges in the case of a prenatally undiagnosed massive congenital brain tumor.

Olischar M, Stavroudis T, Karp JK, Kaufmann WE, Theda C.

J Perinatol. 2015 Sep;35(9):773-5. doi: 10.1038/jp.2015.80.

PMID:
26310316
7.

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE.

Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9.

8.

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK.

Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26.

PMID:
26278631
9.

Anxiety is related to indices of cortical maturation in typically developing children and adolescents.

Newman E, Thompson WK, Bartsch H, Hagler DJ Jr, Chen CH, Brown TT, Kuperman JM, McCabe C, Chung Y, Libiger O, Akshoomoff N, Bloss CS, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, Kennedy DN, Murray SS, Sowell ER, Schork N, Kenet T, Kaufmann WE, Mostofsky S, Amaral DG, Dale AM, Jernigan TL.

Brain Struct Funct. 2016 Jul;221(6):3013-25. doi: 10.1007/s00429-015-1085-9. Epub 2015 Jul 17.

PMID:
26183468
10.

Methyl CpG binding protein 2 deficiency enhances expression of inflammatory cytokines by sustaining NF-κB signaling in myeloid derived cells.

O'Driscoll CM, Lima MP, Kaufmann WE, Bressler JP.

J Neuroimmunol. 2015 Jun 15;283:23-9. doi: 10.1016/j.jneuroim.2015.04.005. Epub 2015 Apr 9.

PMID:
26004152
11.

Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.

Eicher JD, Montgomery AM, 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, Gruen JR; Pediatric Imaging Neurocognition Genetics study.

Brain Imaging Behav. 2016 Mar;10(1):272-82. doi: 10.1007/s11682-015-9392-6.

12.

The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository.

Jernigan TL, Brown TT, Hagler DJ Jr, Akshoomoff N, Bartsch H, Newman E, Thompson WK, Bloss CS, Murray SS, Schork N, Kennedy DN, Kuperman JM, McCabe C, Chung Y, Libiger O, Maddox M, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, Sowell ER, Kenet T, Kaufmann WE, Mostofsky S, Amaral DG, Dale AM; Pediatric Imaging, Neurocognition and Genetics Study.

Neuroimage. 2016 Jan 1;124(Pt B):1149-54. doi: 10.1016/j.neuroimage.2015.04.057. Epub 2015 May 1.

PMID:
25937488
13.

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A.

Am J Med Genet A. 2015 Sep;167A(9):2017-25. doi: 10.1002/ajmg.a.37132. Epub 2015 Apr 25.

PMID:
25914188
14.

Family income, parental education and brain structure in children and adolescents.

Noble KG, Houston SM, Brito NH, Bartsch H, Kan E, Kuperman JM, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Murray SS, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, Kennedy DN, Van Zijl P, Mostofsky S, Kaufmann WE, Kenet T, Dale AM, Jernigan TL, Sowell ER.

Nat Neurosci. 2015 May;18(5):773-8. doi: 10.1038/nn.3983. Epub 2015 Mar 30.

15.

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.

Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK.

Pediatr Neurol. 2015 Jun;52(6):585-91.e2. doi: 10.1016/j.pediatrneurol.2015.02.007. Epub 2015 Feb 16.

16.

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL.

Dis Model Mech. 2015 Apr;8(4):363-71. doi: 10.1242/dmm.020131. Epub 2015 Feb 20.

17.

En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome.

Marschik PB, Kaufmann WE, Bölte S, Sigafoos J, Einspieler C.

Behav Brain Sci. 2014 Dec;37(6):562-3; discussion 577-604. doi: 10.1017/S0140525X1300410X.

PMID:
25514952
18.

Pubertal development in Rett syndrome deviates from typical females.

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK.

Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29.

19.

Psychiatric disorders and left-handedness in children living in an urban environment.

Logue DD, Logue RT, Kaufmann WE, Belcher HM.

Laterality. 2015;20(2):249-56. doi: 10.1080/1357650X.2014.961927. Epub 2014 Oct 3.

PMID:
25280263
20.

Developmental delay in Rett syndrome: data from the natural history study.

Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK.

J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22.

Items per page

Supplemental Content

Loading ...
Write to the Help Desk