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J

Jan Smeıtınk

Radboud Center for Mitochondrial Medicine
H指数:92
被引数:3.1万

个人简介

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教育背景

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荣誉奖项

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Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation

Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation 2b期sonlicromanol项目，用于m.3243A>G突变所致线粒体疾病患者

BRAIN
IF11.7
2024-11-060
OA
Smeitink, Jan; van Es, Just; Bosman, Brigitte; Janssen, Mirian C. H.; Klopstock, Thomas; Gorman, Grainne; Vissing, John; Ruiterkamp, Gerrit; Edgar, Chris J.; Abbink, Evertine J.; van Maanen, Rob; Pogoryelova, Oksana; Stendel, Claudia; Bischoff, Almut; Karin, Ivan; Munshi, Mahtab; Kummel, Anne; Burgert, Lydia; Verhaak, Christianne; Renkema, Herma
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-03-028
OAAI
Wong, Tsz-sum; Belaramani, Kiran M.; Chan, Chun-kong; Chan, Wing-ki; Chan, Wai-lun Larry; Chang, Shek-kwan; Cheung, Sing-ngai; Cheung, Ka-yin; Cheung, Yuk-fai; Chong, Shuk-ching Josephine; Chow, Chi-kwan Jasmine; Chung, Hon-yin Brian; Fan, Sin-ying Florence; Fok, Wai-ming Joshua; Fong, Ka-wing; Fung, Tsui-hang Sharon; Hui, Kwok-fai; Hui, Ting-hin; Hui, Joannie; Ko, Chun-hung; Kwan, Min-chung; Kwok, Mei-kwan Anne; Kwok, Sung-shing Jeffrey; Lai, Moon-sing; Lam, Yau-on; Lam, Ching-wan; Lau, Ming-chung; Law, Chun-yiu Eric; Lee, Wing-cheong; Lee, Han-chih Hencher; Lee, Chin-nam; Leung, Kin-hang; Leung, Kit-yan; Li, Siu-hung; Ling, Tsz-ki Jacky; Liu, Kam-tim Timothy; Lo, Fai-man; Lui, Hiu-tung; Luk, Ching-on; Luk, Ho-ming; Ma, Che-kwan; Ma, Karen; Ma, Kam-hung; Mew, Yuen-ni; Mo, Alex; Ng, Sui-fun; Poon, Wing-kit Grace; Rodenburg, Richard; Sheng, Bun; Smeitink, Jan; Szeto, Cheuk-ling Charing; Tai, Shuk-mui; Tse, Choi-ting Alan; Tsung, Li-yan Lilian; Wong, Ho-ming June; Wong, Wing-yin Winnie; Wong, Kwok-kui; Wong, Suet-na Sheila; Wong, Chun-nei Virginia; Wong, Wai-shan Sammy; Wong, Chi-kin Felix; Wu, Shun-ping; Wu, Hiu-fung Jerome; Yau, Man-mut; Yau, Kin-cheong Eric; Yeung, Wai-lan; Yeung, Hon-ming Jonas; Yip, Kin-keung Edwin; Young, Pui-hong Terence; Yuan, Gao; Yuen, Yuet-ping Liz; Yuen, Chi-lap; Fung, Cheuk-wing
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts

癸基tpp线粒体靶向部分降低了原代人皮肤成纤维细胞中的电子传输链超复合物水平

FREE RADICAL BIOLOGY AND MEDICINE
IF8.2
2022-08-0111
OAAI
Bulthuis, Elianne P.; Einer, Claudia; Distelmaier, Felix; Groh, Laszlo; Van Emst-De Vries, Sjenet E.; Van De Westerlo, Els; Van De Wal, Melissa; Wagenaars, Jori; Rodenburg, Richard J.; Smeitink, Jan A. M.; Riksen, Niels P.; Willems, Peter H. G. M.; Adjobo-Hermans, Merel J. W.; Zischka, Hans; Koopman, Werner J. H.
Exome sequencing in paediatric patients with movement disorders
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-01-1520
OAAI
Kwong, Anna Ka-Yee; Tsang, Mandy Ho-Yin; Fung, Jasmine Lee-Fong; Mak, Christopher Chun-Yu; Chan, Kate Lok-San; Rodenburg, Richard J. T.; Lek, Monkol; Huang, Shushu; Pajusalu, Sander; Yau, Man-Mut; Tsoi, Cheung; Fung, Sharon; Liu, Kam-Tim; Ma, Che-Kwan; Wong, Sheila; Yau, Eric Kin-Cheong; Tai, Shuk-Mui; Fung, Eva Lai-Wah; Wu, Nick Shun-Ping; Tsung, Li-Yan; Smeitink, Jan; Chung, Brian Hon-Yin; Fung, Cheuk-Wing
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
HUMAN GENOMICS
IF4.3
2020-09-1010
OAAI
Tsang, Mandy H. Y.; Kwong, Anna K. Y.; Chan, Kate L. S.; Fung, Jasmine L. F.; Yu, Mullin H. C.; Mak, Christopher C. Y.; Yeung, Kit-San; Rodenburg, Richard J. T.; Smeitink, Jan A. M.; Chan, Rachel; Tsoi, Thomas; Hui, Joannie; Wong, Shelia S. N.; Tai, Shuk-Mui; Chan, Victor C. M.; Ma, Che-Kwan; Fung, Sharon T. H.; Wu, Shun-Ping; Chak, W. K.; Chung, Brian H. Y.; Fung, Cheuk-Wing
NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4-/- mice and Leigh syndrome patients: A stabilizing role for NDUFAF2

NDUFS4缺失触发Ndufs4-/-小鼠和Leigh综合征患者中NDUFA12的丢失: NDUFAF2的稳定作用

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
2020-08-0134
OAAI
Adjobo-Hermans, Merel J. W.; de Haas, Ria; Willems, Peter H. G. M.; Wojtala, Aleksandra; van Emst-de Vries, Sjenet E.; Wagenaars, Jori A.; van den Brand, Mariel; Rodenburg, Richard J.; Smeitink, Jan A. M.; Nijtmans, Leo G.; Sazanov, Leonid A.; Wieckowski, Mariusz R.; Koopman, Werner J. H.

研究方向

暂未获取到该数据
R
Richard J. Rodenburg
H 指数:74论文数:378被引数:1.7万
P
Peter H.G.M. Willems
H 指数:66论文数:344被引数:1.8万
W
Werner J.H. Koopman
H 指数:57论文数:209被引数:1.2万
L
Leo Nijtmans
H 指数:67论文数:210被引数:1.1万
S
Saskia Koene
H 指数:24论文数:90被引数:1,885
L
Lambert P. van den Heuvel
H 指数:44论文数:135被引数:6,851
M
Mirian C. H. Janssen
H 指数:41论文数:252被引数:5,774
J
Julien Beyrath
H 指数:23论文数:65被引数:1,510
S
Saskia B. Wortmann
H 指数:50论文数:260被引数:7,636
P
Paul de Laat
H 指数:16论文数:30被引数:742