Deep Phenotyping of Parkinson's Disease.
Dorsey ER, Omberg L, Waddell E, Adams JL, Adams R, Ali MR, Amodeo K, Arky A, Augustine EF, Dinesh K, Hoque ME, Glidden AM, Jensen-Roberts S, Kabelac Z, Katabi D, Kieburtz K, Kinel DR, Little MA, Lizarraga KJ, Myers T, Riggare S, Rosero SZ, Saria S, Schifitto G, Schneider RB, Sharma G, Shoulson I, Stevenson EA, Tarolli CG, Luo J, McDermott MP
Journal of Parkinson's disease.. 2020 10 (3):855-873. Epub 1900 01 01.
A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design.
Schneider RB, Myers TL, Rowbotham HM, Luff MK, Amodeo K, Sharma S, Wilson R, Jensen-Roberts S, Auinger P, McDermott MP, Alcalay RN, Biglan K, Kinel D, Tanner C, Winter-Evans R, Augustine EF, Cannon P, , Holloway RG, Dorsey ER
Journal of Parkinson's disease.. 2020 10 (3):1195-1207. Epub 1900 01 01.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW
The New England journal of medicine.. 2019 October 24381 (17):1644-1652. Epub 10/09/2019.
Design of a Multisite Study Assessing the Impact of Tic Disorders on Individuals, Families, and Communities.
Augustine EF, Adams HR, Bitsko RH, van Wijngaarden E, Claussen AH, Thatcher A, Hanks CE, Lewin AB, O'Connor TG, Vierhile A, Danielson ML, Kurlan R, Murphy TK, Mink JW
Pediatric neurology.. 2017 March 68 :49-58.e3. Epub 11/08/2016.
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA
Neurology.. 2016 May 1086 (19):1794-800. Epub 03/30/2016.
SUICIDAL THOUGHTS AND BEHAVIORS IN CHILDREN AND ADOLESCENTS WITH CHRONIC TIC DISORDERS.
Storch EA, Hanks CE, Mink JW, McGuire JF, Adams HR, Augustine EF, Vierhile A, Thatcher A, Bitsko R, Lewin AB, Murphy TK
Depression and anxiety.. 2015 October 32 (10):744-53. Epub 02/24/2015.
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, Marshall F, Block R, Dolan J, Mink JW,
Developmental medicine and child neurology.. 2015 April 57 (4):366-71. Epub 11/11/2014.
Sex Differences in Clinical Features of Early, Treated Parkinson's Disease.
Augustine EF, Pérez A, Dhall R, Umeh CC, Videnovic A, Cambi F, Wills AA, Elm JJ, Zweig RM, Shulman LM, Nance MA, Bainbridge J, Suchowersky O
PloS one.. 2015 10 (7):e0133002. Epub 07/14/2015.
Utility of the diagnostic interview schedule for children for assessing Tourette syndrome in children.
Lewin AB, Mink JW, Bitsko RH, Holbrook JR, Parker-Athill EC, Hanks C, Storch EA, Augustine EF, Adams HR, Vierhile AE, Thatcher AR, Murphy TK
Journal of child and adolescent psychopharmacology.. 2014 June 24 (5):275-84. Epub 05/09/2014.
Experience, knowledge, and opinions about childhood genetic testing in Batten disease.
Adams HR, Rose K, Augustine EF, Kwon JM, Deblieck EA, Marshall FJ, Vierhile A, Mink JW, Nance MA
Molecular genetics and metabolism.. 2014 February 111 (2):197-202. Epub 11/04/2013.
No sex differences in use of dopaminergic medication in early Parkinson disease in the US and Canada - baseline findings of a multicenter trial.
Umeh CC, Pérez A, Augustine EF, Dhall R, Dewey RB, Mari Z, Simon DK, Wills AM, Christine CW, Schneider JS, Suchowersky O
PloS one.. 2014 9 (12):e112287. Epub 12/08/2014.
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW,
Contemporary clinical trials.. 2013 July 35 (2):48-54. Epub 04/26/2013.
Females experience a more severe disease course in Batten disease.
Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW
Journal of inherited metabolic disease.. 2012 May 35 (3):549-55. Epub 12/14/2011.
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW
Neurology.. 2011 November 1577 (20):1801-7. Epub 10/19/2011.
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, DE Blieck EA, Pearce DA, Mink JW
Developmental medicine and child neurology.. 2010 July 52 (7):637-43. Epub 02/19/2010.