Tifft CJ - Search Results

1

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.

Maegawa GH, van Giersbergen PL, Yang S, Banwell B, Morgan CP, Dingemanse J, Tifft CJ, Clarke JT. Maegawa GH, et al. Among authors: tifft cj. Mol Genet Metab. 2009 Aug;97(4):284-91. doi: 10.1016/j.ymgme.2009.04.013. Epub 2009 May 3. Mol Genet Metab. 2009. PMID: 19447653 Clinical Trial.

2

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Regier DS, Kwon HJ, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH, Tifft CJ. Regier DS, et al. Among authors: tifft cj. Am J Med Genet A. 2016 Mar;170(3):634-44. doi: 10.1002/ajmg.a.37468. Epub 2015 Dec 8. Am J Med Genet A. 2016. PMID: 26646981

3

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. Ferreira CR, et al. Among authors: tifft cj. Bone. 2020 Feb;131:115142. doi: 10.1016/j.bone.2019.115142. Epub 2019 Nov 6. Bone. 2020. PMID: 31704340 Free PMC article.

4

The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.

Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ. Lang FM, et al. Among authors: tifft cj. Mol Genet Metab. 2020 Mar;129(3):228-235. doi: 10.1016/j.ymgme.2019.12.012. Epub 2019 Dec 30. Mol Genet Metab. 2020. PMID: 31937438 Free PMC article. Review.

5

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

6

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

Regier DS, Leon E, Counts DR, Tifft CJ, Zand DJ. Regier DS, et al. Among authors: tifft cj. Am J Med Genet A. 2015 Aug;167A(8):1944-8. doi: 10.1002/ajmg.a.37090. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900722 No abstract available.

7

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis.

Latour YL, Yoon R, Thomas SE, Grant C, Li C, Sena-Esteves M, Allende ML, Proia RL, Tifft CJ. Latour YL, et al. Among authors: tifft cj. Mol Genet Metab Rep. 2019 Sep 11;21:100513. doi: 10.1016/j.ymgmr.2019.100513. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31534909 Free PMC article.

8

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Davids M, et al. Among authors: tifft cj. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10. Mol Genet Metab. 2020. PMID: 32165008 Free PMC article.

9

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM. Nicoli ER, et al. Among authors: tifft cj. Front Genet. 2021 Sep 3;12:734878. doi: 10.3389/fgene.2021.734878. eCollection 2021. Front Genet. 2021. PMID: 34539759 Free PMC article. Review.

10

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.

Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ. Nicoli ER, et al. Among authors: tifft cj. Mol Genet Metab. 2023 Feb;138(2):107508. doi: 10.1016/j.ymgme.2023.107508. Epub 2023 Jan 13. Mol Genet Metab. 2023. PMID: 36709532 Free PMC article.

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