Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

462 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Schob C, Hempel M, Safka Brozkova D, Jiang H, Kim SY, Batzir NA, Orenstein N, Bierhals T, Johannsen J, Uhrova Meszarosova A, Chae JH, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J. Schob C, et al. Among authors: chae jh. Ann Neurol. 2021 Nov;90(5):738-750. doi: 10.1002/ana.26228. Epub 2021 Oct 14. Ann Neurol. 2021. PMID: 34564892
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC. Choi SA, et al. Among authors: chae jh. Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516. Ann Lab Med. 2017. PMID: 28840990 Free PMC article.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M. Yoo Y, et al. Among authors: chae jh. Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032. Ann Neurol. 2017. PMID: 28856709
Paroxysmal Dyskinesia in Children: from Genes to the Clinic.
Kim SY, Lee JS, Kim WJ, Kim H, Choi SA, Lim BC, Kim KJ, Chae JH. Kim SY, et al. Among authors: chae jh. J Clin Neurol. 2018 Oct;14(4):492-497. doi: 10.3988/jcn.2018.14.4.492. Epub 2018 Jul 12. J Clin Neurol. 2018. PMID: 30198221 Free PMC article.
462 results