Augustine EF - Search Results

1

Data sharing to advance gene-targeted therapies in rare diseases.

Lekstrom-Himes J, Augustine EF, Brower A, Defay T, Finkel RS, McGuire AL, Skinner MW, Yu TW. Lekstrom-Himes J, et al. Among authors: augustine ef. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):87-98. doi: 10.1002/ajmg.c.32028. Epub 2023 Jan 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 36594517

2

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. Adams HR, et al. Among authors: augustine ef. Dev Med Child Neurol. 2010 Jul;52(7):637-43. doi: 10.1111/j.1469-8749.2010.03628.x. Epub 2010 Feb 19. Dev Med Child Neurol. 2010. PMID: 20187884 Free PMC article.

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. Adams HR, et al. Among authors: augustine ef. Mol Genet Metab. 2014 Feb;111(2):197-202. doi: 10.1016/j.ymgme.2013.10.017. Epub 2013 Nov 4. Mol Genet Metab. 2014. PMID: 24246680 Free PMC article.

4

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

Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW. Cialone J, et al. Among authors: augustine ef. Neurology. 2011 Nov 15;77(20):1808-11. doi: 10.1212/WNL.0b013e3182377e29. Epub 2011 Oct 19. Neurology. 2011. PMID: 22013181 Free PMC article.

5

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

Statland JM, Griggs RC, Augustine EF. Statland JM, et al. Among authors: augustine ef. Neurology. 2012 Sep 25;79(13):e106-8. doi: 10.1212/WNL.0b013e31826c19b4. Neurology. 2012. PMID: 23008225 Free PMC article. No abstract available.

6

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. Augustine EF, et al. JIMD Rep. 2019;43:117-124. doi: 10.1007/8904_2018_113. Epub 2018 Jun 20. JIMD Rep. 2019. PMID: 29923092 Free PMC article.

7

Pediatric Neurology Research in the Twenty-First Century: Status, Challenges, and Future Directions Post-COVID-19.

Bonkowsky JL, deVeber G, Kosofsky BE; Child Neurology Society Research Committee. Bonkowsky JL, et al. Pediatr Neurol. 2020 Dec;113:2-12. doi: 10.1016/j.pediatrneurol.2020.08.012. Epub 2020 Aug 26. Pediatr Neurol. 2020. PMID: 32979654 Free PMC article.

8

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. Drack AV, et al. Among authors: augustine ef. Ophthalmic Genet. 2015;36(4):359-64. doi: 10.3109/13816810.2014.886271. Epub 2014 Feb 19. Ophthalmic Genet. 2015. PMID: 24547931

9

Management of CLN1 Disease: International Clinical Consensus.

Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Augustine EF, et al. Pediatr Neurol. 2021 Jul;120:38-51. doi: 10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. Pediatr Neurol. 2021. PMID: 34000449 Free article.

10

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. Augustine EF, et al. Pediatr Neurol. 2017 Mar;68:49-58.e3. doi: 10.1016/j.pediatrneurol.2016.10.017. Epub 2016 Nov 8. Pediatr Neurol. 2017. PMID: 28254245 Free PMC article.

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