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Items: 1 to 20 of 156

1.

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.

Kaufmann WE, Stallworth JL, Everman DB, Skinner SA.

Expert Opin Orphan Drugs. 2016 Oct 2;4(10):1043-1055. doi: 10.1080/21678707.2016.1229181. Review.

2.

Assessment of Caregiver Inventory for Rett Syndrome.

Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

J Autism Dev Disord. 2017 Jan 28. doi: 10.1007/s10803-017-3034-3. [Epub ahead of print]

PMID:
28132121
3.

Longitudinal course of epilepsy in Rett syndrome and related disorders.

Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.

Brain. 2017 Feb;140(Pt 2):306-318. doi: 10.1093/brain/aww302.

PMID:
28007990
4.

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

Ward CS, Huang TW, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL.

PLoS One. 2016 Nov 9;11(11):e0165550. doi: 10.1371/journal.pone.0165550.

5.

Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.

Kaufmann WE.

Curr Neurol Neurosci Rep. 2016 Dec;16(12):103. Review.

PMID:
27815692
6.

Gray matter maturation and cognition in children with different APOE ε genotypes.

Chang L, Douet V, Bloss C, Lee K, Pritchett A, Jernigan TL, Akshoomoff N, Murray SS, Frazier J, Kennedy DN, Amaral DG, Gruen J, Kaufmann WE, Casey BJ, Sowell E, Ernst T; Pediatric Imaging, Neurocognition, and Genetics (PING) Study Consortium..

Neurology. 2016 Aug 9;87(6):585-94. doi: 10.1212/WNL.0000000000002939.

PMID:
27412137
7.

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. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42.

8.

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.

PMID:
26995066
9.

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. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437.

PMID:
26457613
10.

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.

11.

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.

PMID:
26332183
12.

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
13.

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.

14.

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.

15.

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.

16.

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.

PMID:
26004152
17.

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.

18.

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.

19.

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.

PMID:
25914188
20.

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.

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