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Items: 33


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.

N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9.


A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder.

Adams HR, Defendorf S, Vierhile A, Mink JW, Marshall FJ, Augustine EF.

Clin Trials. 2019 Oct;16(5):555-560. doi: 10.1177/1740774519855715. Epub 2019 Jun 11.


Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).

Augustine EF, Beck CA, Adams HR, Defendorf S, Vierhile A, Timm D, Weimer JM, Mink JW, Marshall FJ.

JIMD Rep. 2019;43:117-124. doi: 10.1007/8904_2018_113. Epub 2018 Jun 20.


The Care Continuum: An Evolving Model for Care and Research in Rare Diseases.

Augustine EF, Dorsey ER, Saltonstall PL.

Pediatrics. 2017 Sep;140(3). pii: e20170108. doi: 10.1542/peds.2017-0108. Epub 2017 Aug 17. No abstract available.


Screening tools for tic disorders-Focus on development or implementation?

Augustine EF, Adams HR, Mink JW.

Mov Disord. 2017 Jun;32(6):946. doi: 10.1002/mds.26981. Epub 2017 Apr 24. No abstract available.


Clinical pearls and scientific advancement: Reconciling tradition with new knowledge.

Augustine EF, Gilbert DL.

Neurology. 2017 May 9;88(19):1786-1787. doi: 10.1212/WNL.0000000000003896. Epub 2017 Apr 7. No abstract available.


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.

Pediatr Neurol. 2017 Mar;68:49-58.e3. doi: 10.1016/j.pediatrneurol.2016.10.017. Epub 2016 Nov 8.


Communicating with participants during the conduct of multi-center clinical trials.

Augustine EF, Dorsey ER, Hauser RA, Elm JJ, Tilley BC, Kieburtz KK.

Clin Trials. 2016 Dec;13(6):592-596. Epub 2016 Aug 29.


Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.

Augustine EF, Mink JW.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:655-62. Review.


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 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.


Neonatal dentate nucleus T2 hyperintensity after in utero metronidazole exposure.

Bates JE, Almast J, Augustine EF.

Neurology. 2015 Sep 15;85(11):1006. doi: 10.1212/WNL.0000000000001932. No abstract available.


Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.

Ragbeer SN, Augustine EF, Mink JW, Thatcher AR, Vierhile AE, Adams HR.

J Child Neurol. 2016 Mar;31(4):481-7. doi: 10.1177/0883073815600863. Epub 2015 Sep 2.


Sex Differences in Clinical Features of Early, Treated Parkinson's Disease.

Augustine EF, Pérez A, Dhall R, Umeh CC, Videnovic A, Cambi F, Wills AM, Elm JJ, Zweig RM, Shulman LM, Nance MA, Bainbridge J, Suchowersky O.

PLoS One. 2015 Jul 14;10(7):e0133002. doi: 10.1371/journal.pone.0133002. eCollection 2015.



Storch EA, Hanks CE, Mink JW, McGuire JF, Adams HR, Augustine EF, Vierhile A, Thatcher A, Bitsko R, Lewin AB, Murphy TK.

Depress Anxiety. 2015 Oct;32(10):744-53. doi: 10.1002/da.22357. Epub 2015 Feb 24.


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 Jr, Mari Z, Simon DK, Wills AM, Christine CW, Schneider JS, Suchowersky O.

PLoS One. 2014 Dec 8;9(12):e112287. doi: 10.1371/journal.pone.0112287. eCollection 2014.


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; Batten Study Group.

Dev Med Child Neurol. 2015 Apr;57(4):366-71. doi: 10.1111/dmcn.12634. Epub 2014 Nov 11.


Pearls & Oy-sters: cough headache secondary to Chiari malformation type I.

Bates JE, Augustine EF.

Neurology. 2014 Oct 14;83(16):e149-51. doi: 10.1212/WNL.0000000000000889. No abstract available.


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.

J Child Adolesc Psychopharmacol. 2014 Jun;24(5):275-84. doi: 10.1089/cap.2013.0128. Epub 2014 May 9.


Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).

Drack AV, Mullins RF, Pfeifer WL, Augustine EF, Stasheff SF, Hong SD.

Ophthalmic Genet. 2015;36(4):359-64. doi: 10.3109/13816810.2014.886271. Epub 2014 Feb 19.


Malignant melanoma in early-treated Parkinson's disease: the NET-PD trial.

Constantinescu R, Elm J, Auinger P, Sharma S, Augustine EF, Khadim L, Kieburtz K; NET-PD Investigators.

Mov Disord. 2014 Feb;29(2):263-5. doi: 10.1002/mds.25734. Epub 2013 Dec 3.


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.

Mol Genet Metab. 2014 Feb;111(2):197-202. doi: 10.1016/j.ymgme.2013.10.017. Epub 2013 Nov 4.


Clinical trials in rare disease: challenges and opportunities.

Augustine EF, Adams HR, Mink JW.

J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.


Enzyme replacement in neuronal storage disorders in the pediatric population.

Augustine EF, Mink JW.

Curr Treat Options Neurol. 2013 Oct;15(5):634-51. doi: 10.1007/s11940-013-0256-3.


Classification and natural history of the neuronal ceroid lipofuscinoses.

Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM.

J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9. Review.


Myoclonus-dystonia syndrome associated with Russell Silver syndrome.

Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW.

Mov Disord. 2013 Jun;28(6):841-2. doi: 10.1002/mds.25483. Epub 2013 May 23. No abstract available.


Pediatric movement disorders: Five new things.

Blackburn JS, Mink JW, Augustine EF.

Neurol Clin Pract. 2012 Dec;2(4):311-318.


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; Batten Study Group.

Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26.


Emerging subspecialties in neurology: fellowship in experimental therapeutics of neurologic disease.

Statland JM, Griggs RC, Augustine EF.

Neurology. 2012 Sep 25;79(13):e106-8. No abstract available.


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.

J Inherit Metab Dis. 2012 May;35(3):549-55. doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14. Erratum in: J Inherit Metab Dis. 2012 May;35(3):559.


Quantitative telemedicine ratings in Batten disease: implications for rare disease research.

Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW.

Neurology. 2011 Nov 15;77(20):1808-11. doi: 10.1212/WNL.0b013e3182377e29. Epub 2011 Oct 19.


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 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.


Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.

Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW.

J Inherit Metab Dis. 2011 Oct;34(5):1075-81. doi: 10.1007/s10545-011-9346-0. Epub 2011 May 10.


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.

Dev Med Child Neurol. 2010 Jul;52(7):637-43. doi: 10.1111/j.1469-8749.2010.03628.x. Epub 2010 Feb 19. Erratum in: Dev Med Child Neurol. 2010 Oct;52(10):890.

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