Page 92 - 22-0424

The International Journal of the Royal Society of Thailand
Volume XI - 2019

Maetzel D, Sarkar S, Wang H, Abi-Mosleh L, Xu P, Cheng AW, et al. Genetic and
chemical correction of cholesterol accumulation and impaired autophagy
in hepatic and neural cells derived from Niemann-Pick Type C patient-

specific iPS cells. Stem Cell Reports. 2014;2:866–880. doi:10.1016/j.stemcr.
2014.03.014.

Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, et al. Pathogenesis
of ELANE-mutant severe neutropenia revealed by induced pluripotent
stem cells. J Clin Invest. 2015;125:3103–3116. doi:10.1172/JCI80924.
Norbnop P, Ingrungruanglert P, Israsena N, Suphapeetiporn K, Shotelersuk V.
Generation and characterization of HLA-universal platelets derived from
induced pluripotent stem cells. Sci Rep. 2020;10:8472. doi:10.1038/s41598-
020-65577-x

Panmontha W, Amarinthnukrowh P, Damrongphol P, Desudchit T, Suphapeetiporn
K, Shotelersuk V. Novel mutations in the FUCA1 gene that cause fucosidosis.

Genet Mol Res. 2016;15(3). doi:10.4238/gmr.15038733.
Park CY, Kim DH, Son JS, Sung JJ, Lee J, Bae S, et al. Functional Correction of
Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-
Derived iPSCs Using CRISPR-Cas9. Cell Stem Cell. 2015;17(2):213–20.
doi:10.1016/j.stem.2015.07.001.

Pergande M, Motameny S, Ozdemir O, Kreutzer M, Wang H, Daimaguler HS, et al.
The genomic and clinical landscape of fetal akinesia. Genet Med.
2020;22(3):511–523. doi:10.1038/s41436-019-0680-1.

Rexach J, Lee H, Martinez-Agosto JA, Nemeth AH, Fogel BL. Clinical application
of next-generation sequencing to the practice of neurology. Lancet Neurol.
2019;18:492–503. doi:10.1016/S1474-4422(19)30033-X.

Stein CA and Castanotto D. FDA-approved oligonucleotide therapies in 2017.
Mol Ther. 2017;25:1069–1075. doi:10.1016/j.ymthe.2017.03.023.

Strafella C, Caputo V, Galota MR, Zampatti S, Marella G, Mauriello S, et al.
Application of precision medicine in neurodegenerative diseases. Front
Neurol. 2018;9:701. doi:10.3389/fneur.2018.00701.

Striano P and Minassian BA. From genetic testing to precision medicine in epilepsy.
Neurotherapeutics. 2020;17: 609–615. doi:10.1007/s13311-020-00835-4.

86 Precision Medicine in Hereditary Neurological Disorders:
From Diagnosis to Treatment

11/7/2565 BE 13:30
_22-0424(077-088)8.indd 86
_22-0424(077-088)8.indd 86 11/7/2565 BE 13:30