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Items: 1 to 20 of 268

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 Jan 11. pii: S0887-8994(15)30314-3. doi: 10.1016/j.pediatrneurol.2015.12.021. [Epub ahead of print]

PMID:
26995066
3.
4.

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.

Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, Munns C, Motil K, Tarquinio D, Shapiro JR, Brismar T, Ben-Zeev B, Bisgaard AM, Coppola G, Ellaway C, Freilinger M, Geerts S, Humphreys P, Jones M, Lane J, Larsson G, Lotan M, Percy A, Pineda M, Skinner S, Syhler B, Thompson S, Weiss B, Witt Engerström I, Downs J.

PLoS One. 2016 Feb 5;11(2):e0146824. doi: 10.1371/journal.pone.0146824. eCollection 2016.

5.

A standardized kit for automated quantitative assessment of candidate protein biomarkers in human plasma.

Percy AJ, Mohammed Y, Yang J, Borchers CH.

Bioanalysis. 2015 Dec;7(23):2991-3004. doi: 10.4155/bio.15.222. Epub 2015 Dec 2.

6.

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Huntington Study Group PHAROS Investigators, Biglan KM, Shoulson I, Kieburtz K, Oakes D, Kayson E, Shinaman MA, Zhao H, Romer M, Young A, Hersch S, Penney J, Marder K, Paulsen J, Quaid K, Siemers E, Tanner C, Mallonee W, Suter G, Dubinsky R, Gray C, Nance M, Bundlie S, Radtke D, Kostyk S, Baic C, Caress J, Walker F, Hunt V, O'Neill C, Chouinard S, Factor S, Greenamyre T, Wood-Siverio C, Corey-Bloom J, Song D, Peavy G, Moskowitz C, Wesson M, Samii A, Bird T, Lipe H, Blindauer K, Marshall F, Zimmerman C, Goldstein J, Rosas D, Novak P, Caviness J, Adler C, Duffy A, Wheelock V, Tempkin T, Richman D, Seeberger L, Albin R, Chou KL, Racette B, Perlmutter JS, Perlman S, Bordelon Y, Martin W, Wieler M, Leavitt B, Raymond L, Decolongon J, Clarke L, Jankovic J, Hunter C, Hauser RA, Sanchez-Ramos J, Furtado S, Suchowersky O, Klimek ML, Guttman M, Sethna R, Feigin A, Cox M, Shannon B, Percy A, Dure L, Harrison M, Johnson W, Higgins D, Molho E, Nickerson C, Evans S, Hobson D, Singer C, Galvez-Jimenez N, Shannon K, Comella C, Ross C, Saint-Hilaire MH, Testa C, Rosenblatt A, Hogarth P, Weiner W, Como P, Kumar R, Cotto C, Stout J, Brocht A, Watts A, Eberly S, Weaver C, Foroud T, Gusella J, MacDonald M, Myers R, Fahn S, Shults C.

JAMA Neurol. 2016 Jan;73(1):102-10. doi: 10.1001/jamaneurol.2015.2736.

PMID:
26569098
7.

Multiple Reaction Monitoring Enables Precise Quantification of 97 Proteins in Dried Blood Spots.

Chambers AG, Percy AJ, Yang J, Borchers CH.

Mol Cell Proteomics. 2015 Nov;14(11):3094-104. doi: 10.1074/mcp.O115.049957. Epub 2015 Sep 4.

PMID:
26342038
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.

The stability of alcohol consumption between age 16 and 26: Evidence from a National Birth Cohort Study.

Percy A, McKay M.

J Adolesc. 2015 Oct;44:57-69. doi: 10.1016/j.adolescence.2015.07.005. Epub 2015 Jul 25.

PMID:
26218601
10.

In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015.

Percy A, Kyllerman M.

Pediatr Neurol. 2015 Aug;53(2):105-7. doi: 10.1016/j.pediatrneurol.2015.04.014. Epub 2015 May 4. No abstract available.

PMID:
26096617
11.

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.

Neul JL, Glaze DG, Percy AK, Feyma T, Beisang A, Dinh T, Suter B, Anagnostou E, Snape M, Horrigan J, Jones NE.

J Child Neurol. 2015 Nov;30(13):1743-8. doi: 10.1177/0883073815579707. Epub 2015 Apr 20.

12.

The effects of the Omagh bomb on adolescent mental health: a school-based study.

Duffy M, McDermott M, Percy A, Ehlers A, Clark DM, Fitzgerald M, Moriarty J.

BMC Psychiatry. 2015 Feb 6;15:18. doi: 10.1186/s12888-015-0398-9.

13.

Rett Syndrome: Reaching for Clinical Trials.

Pozzo-Miller L, Pati S, Percy AK.

Neurotherapeutics. 2015 Jul;12(3):631-40. doi: 10.1007/s13311-015-0353-y. Review.

PMID:
25861995
14.

Precise quantitation of 136 urinary proteins by LC/MRM-MS using stable isotope labeled peptides as internal standards for biomarker discovery and/or verification studies.

Percy AJ, Yang J, Hardie DB, Chambers AG, Tamura-Wells J, Borchers CH.

Methods. 2015 Jun 15;81:24-33. doi: 10.1016/j.ymeth.2015.04.001. Epub 2015 Apr 6.

PMID:
25858257
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.

PMID:
25801175
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.

Qualis-SIS: automated standard curve generation and quality assessment for multiplexed targeted quantitative proteomic experiments with labeled standards.

Mohammed Y, Percy AJ, Chambers AG, Borchers CH.

J Proteome Res. 2015 Feb 6;14(2):1137-46. doi: 10.1021/pr5010955. Epub 2015 Jan 16.

PMID:
25546269
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.

Predictors of serum polychlorinated biphenyl concentrations in Anniston residents.

Pavuk M, Olson JR, Wattigney WA, Dutton ND, Sjödin A, Shelton C, Turner WE, Bartell SM; Anniston Environmental Health Research Consortium Members of Anniston Environmental Health Research Consortium Steering Committee include S Carter, Bartell S, Carpenter DO, Cash J, Foushee R, Percy A, Frumkin H, Lavender M, Moysich K, Olson J, Pavuk M, Rosenbaum P, Silverstone A, Weinstock R, Shelton C.

Sci Total Environ. 2014 Oct 15;496:624-34. doi: 10.1016/j.scitotenv.2014.06.113. Epub 2014 Aug 9.

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.

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