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Items: 1 to 50 of 182

1.

Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.

Kidd SA, Berry-Kravis E, Choo TH, Chen C, Esler A, Hoffmann A, Andrews HF, Kaufmann WE.

J Autism Dev Disord. 2019 Jul 24. doi: 10.1007/s10803-019-04148-0. [Epub ahead of print]

PMID:
31342442
2.

Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review.

Sanfeliu A, Kaufmann WE, Gill M, Guasoni P, Tropea D.

Neuroscience. 2019 Aug 10;413:183-205. doi: 10.1016/j.neuroscience.2019.06.013. Epub 2019 Jun 21. Review.

PMID:
31229631
3.

Severity Assessment in CDKL5 Deficiency Disorder.

Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA.

Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27.

PMID:
31147226
4.

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE.

Neurology. 2019 May 28;92(22):e2594-e2603. doi: 10.1212/WNL.0000000000007560. Epub 2019 May 3.

PMID:
31053667
5.

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.

Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group.

Neurology. 2019 Apr 16;92(16):e1912-e1925. doi: 10.1212/WNL.0000000000007316. Epub 2019 Mar 27.

6.

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.

Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15.

PMID:
30788845
7.

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.

Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE.

Brain. 2019 Feb 1;142(2):239-248. doi: 10.1093/brain/awy323.

PMID:
30649225
8.

Best Practices in Fragile X Syndrome Treatment Development.

Erickson CA, Kaufmann WE, Budimirovic DB, Lachiewicz A, Haas-Givler B, Miller RM, Weber JD, Abbeduto L, Hessl D, Hagerman RJ, Berry-Kravis E.

Brain Sci. 2018 Dec 15;8(12). pii: E224. doi: 10.3390/brainsci8120224.

9.

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7.

10.

Behavioral profiles in Rett syndrome: Data from the natural history study.

Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.

Brain Dev. 2019 Feb;41(2):123-134. doi: 10.1016/j.braindev.2018.08.008. Epub 2018 Sep 11.

PMID:
30217666
11.

The course of awake breathing disturbances across the lifespan in Rett syndrome.

Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK.

Brain Dev. 2018 Aug;40(7):515-529. doi: 10.1016/j.braindev.2018.03.010. Epub 2018 Apr 12.

12.

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Poon C, Mayor Torres JM, Nelson CA 3rd, Sahin M.

Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. doi: 10.1002/acn3.533. eCollection 2018 Mar. Erratum in: Ann Clin Transl Neurol. 2018 Jul 13;5(7):895. Poon C [added].

13.

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A.

Eur J Hum Genet. 2018 Mar;26(3):293-302. doi: 10.1038/s41431-017-0042-x. Epub 2018 Jan 22.

14.

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.

Clarkson T, LeBlanc J, DeGregorio G, Vogel-Farley V, Barnes K, Kaufmann WE, Nelson CA.

Intellect Dev Disabil. 2017 Dec;55(6):419-431. doi: 10.1352/1934-9556-55.6.419.

PMID:
29194024
15.

Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.

O'Leary HM, Mayor JM, Chi-Sang Poon, Kaufmann WE, Sahin M.

Conf Proc IEEE Eng Med Biol Soc. 2017 Jul;2017:442-445. doi: 10.1109/EMBC.2017.8036857.

PMID:
29059905
16.

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE.

Pediatr Neurol. 2017 Oct;75:91-95. doi: 10.1016/j.pediatrneurol.2017.05.025. Epub 2017 Jun 2.

17.

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.

Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown WT, Berry-Kravis E.

Pediatrics. 2017 Jun;139(Suppl 3):S194-S206. doi: 10.1542/peds.2016-1159F.

18.

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.

Pediatrics. 2017 Jun;139(Suppl 3):S183-S193. doi: 10.1542/peds.2016-1159E.

19.

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.

Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, King MK, Abbeduto L, Kaufmann WE.

J Neurodev Disord. 2017 Jun 12;9:14. doi: 10.1186/s11689-017-9193-x. eCollection 2017. Review.

20.

Fragile X targeted pharmacotherapy: lessons learned and future directions.

Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E.

J Neurodev Disord. 2017 Jun 12;9:7. doi: 10.1186/s11689-017-9186-9. eCollection 2017. Review.

21.

Arbaclofen in fragile X syndrome: results of phase 3 trials.

Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL.

J Neurodev Disord. 2017 Jun 12;9:3. doi: 10.1186/s11689-016-9181-6. eCollection 2017.

22.

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.

Marschik PB, Pokorny FB, Peharz R, Zhang D, O'Muircheartaigh J, Roeyers H, Bölte S, Spittle AJ, Urlesberger B, Schuller B, Poustka L, Ozonoff S, Pernkopf F, Pock T, Tammimies K, Enzinger C, Krieber M, Tomantschger I, Bartl-Pokorny KD, Sigafoos J, Roche L, Esposito G, Gugatschka M, Nielsen-Saines K, Einspieler C, Kaufmann WE; BEE-PRI Study Group.

Curr Neurol Neurosci Rep. 2017 May;17(5):43. doi: 10.1007/s11910-017-0748-8. Review.

23.

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.

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

Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.

24.

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. Epub 2016 Sep 10. Review.

25.

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 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3.

26.

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

Zhang D, Kaufmann WE, Sigafoos J, Bartl-Pokorny KD, Krieber M, Marschik PB, Einspieler C.

J Intellect Dev Disabil. 2017;42(2):114-122. doi: 10.3109/13668250.2016.1228858. Epub 2016 Sep 18.

27.

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(2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.

28.

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. eCollection 2016.

29.

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
30.

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. Epub 2016 Jul 13.

31.

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. Epub 2016 May 12.

32.

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.

33.

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. Epub 2015 Oct 12.

PMID:
26457613
34.

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.

35.

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
36.

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
37.

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.

38.

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.

39.

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.

40.

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
41.

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.

42.

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):1149-1154. doi: 10.1016/j.neuroimage.2015.04.057. Epub 2015 May 1.

43.

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.

44.

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.

45.

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.

46.

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.

47.

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
48.

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.

49.

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
50.

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.

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