Maegawa GH - Search Results

1

Clinical neurogenetics: neuropathic lysosomal storage disorders.

Pastores GM, Maegawa GH. Pastores GM, et al. Among authors: maegawa gh. Neurol Clin. 2013 Nov;31(4):1051-71. doi: 10.1016/j.ncl.2013.04.007. Neurol Clin. 2013. PMID: 24176423 Free PMC article. Review.

2

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.

Maegawa GHB. Maegawa GHB. J Child Neurol. 2019 May;34(6):339-358. doi: 10.1177/0883073819828587. Epub 2019 Feb 13. J Child Neurol. 2019. PMID: 30757954 Free PMC article. Review.

3

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.

Jiang W, Yi M, Maegawa GHB, Zhang H. Jiang W, et al. J Hum Genet. 2020 Mar;65(3):345-349. doi: 10.1038/s10038-019-0704-3. Epub 2019 Dec 11. J Hum Genet. 2020. PMID: 31822786

4

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.

Geng H, Whiteley G, Ribbens J, Zheng W, Southall N, Hu X, Marugan JJ, Ferrer M, Maegawa GH. Geng H, et al. Among authors: maegawa gh. PLoS One. 2011;6(12):e29504. doi: 10.1371/journal.pone.0029504. Epub 2011 Dec 21. PLoS One. 2011. PMID: 22216298 Free PMC article.

5

CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.

Edelmann MJ, Maegawa GHB. Edelmann MJ, et al. Front Mol Biosci. 2020 Nov 12;7:559804. doi: 10.3389/fmolb.2020.559804. eCollection 2020. Front Mol Biosci. 2020. PMID: 33304924 Free PMC article. Review.

6

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. Metz KA, et al. Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8. Ann Neurol. 2018. PMID: 30295347 Free PMC article.

7

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB, Zhang H. Yi M, et al. Among authors: maegawa ghb. J Inherit Metab Dis. 2022 May;45(3):593-604. doi: 10.1002/jimd.12491. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35212421

8

Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1.

Han S, Zhang H, Yi M, Liu X, Maegawa GHB, Zou Y, Wang Q, Wu D, Ye Z. Han S, et al. Among authors: maegawa ghb. Front Pharmacol. 2021 Jun 9;12:667361. doi: 10.3389/fphar.2021.667361. eCollection 2021. Front Pharmacol. 2021. PMID: 34177581 Free PMC article.

9

A high-throughput screening assay using Krabbe disease patient cells.

Ribbens J, Whiteley G, Furuya H, Southall N, Hu X, Marugan J, Ferrer M, Maegawa GH. Ribbens J, et al. Among authors: maegawa gh. Anal Biochem. 2013 Mar 1;434(1):15-25. doi: 10.1016/j.ab.2012.10.034. Epub 2012 Nov 5. Anal Biochem. 2013. PMID: 23138179 Free PMC article.

10

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.

Ribbens JJ, Moser AB, Hubbard WC, Bongarzone ER, Maegawa GH. Ribbens JJ, et al. Among authors: maegawa gh. Mol Genet Metab. 2014 Feb;111(2):172-83. doi: 10.1016/j.ymgme.2013.09.011. Epub 2013 Sep 21. Mol Genet Metab. 2014. PMID: 24094551 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

56 results

Search Page