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Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia Go to Link

Kim, Eun-Joo; Kim, Young-Eun; Jang, Ja-Hyun; Cho, Eun-Hae; Na, Duk L.; Seo, Sang Won; Jung, Na-Yeon; Jeong, Jee H.; Kwon, Jay C.; Park, Kee Hyung, et al.

ArticleIssue Date2018CitationNEUROBIOLOGY OF AGING, v.72, pp.186.e1 - 186.e7PublisherELSEVIER SCIENCE INC

SCISCIESCOPUS

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis Go to Link

Jang, Ja-Hyun; Kwon, Min-Jung; Choi, Won Jun; Oh, Ki-Wook; Koh, Seong-Ho; Ki, Chang-Seok; Kim, Seung Hyun

ArticleIssue Date2013CitationNeurobiology of Aging, v.34, no.4, pp e7 - e9PublisherElsevier BV

SCIESCOPUSKCI

Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach Go to Link open access

Park, Kyung Sun; Shin, Sunghwan; Park, Jong-Ho; Kim, Young-Eun; Kwon, Won Kyung; So, Min-Kyung; Ha, Changhee; Jang, Ja-Hyun; Lee, Taeheon; Ki, Chang-Seok, et al.

ArticleIssue Date2026CitationANNALS OF LABORATORY MEDICINE, v.46, no.1, pp 94 - 103PublisherKOREAN SOC LABORATORY MEDICINE

SCIESCOPUS

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia Go to Link open access

Chun, Min Young; Heo, Nam Jin; Seo, Sang Won; Jang, Hyemin; Suh, Yeon-Lim; Jang, Ja-Hyun; Kim, Young-Eun; Kim, Eun-Joo; Moon, So Young; Jung, Na-Yeon, et al.

ArticleIssue Date2023CitationFRONTIERS IN NEUROLOGY, v.14, pp.1 - 7PublisherFRONTIERS MEDIA SA

SCIESCOPUS

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years Go to Link

Hwang, Narae; Kim, Sang-Mi; Kim, Young-Gon; Ha, Changhee; Lee, Jeehun; Choi, Byung-Ok; Sung, Won Jae; Kim, Seung Hyun; Kim, Young Mi; Lee, Yong-Wha, et al.

ArticleIssue Date2024CitationClinical Genetics, v.106, no.2, pp 150 - 160PublisherBlackwell Publishing Inc.

SCIESCOPUS

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis Go to Link

Kim, Young-Eun; Oh, Ki-Wook; Noh, Min-Young; Nahm, Minyeop; Park, Jinseok; Lim, Su Min; Jang, Ja-Hyun; Cho, Eun-Hae; Ki, Chang-Seok; Lee, Seungbok, et al.

ArticleIssue Date2017CitationNeurobiology of Aging, v.50, pp 170.e1 - 170.e6PublisherElsevier BV

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Browsing by Jang, Ja-HyunAuthor

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