PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Journal of Movement Disorders10.14802/jmd.18062201912163-65Novel Ferritin Light Chain Gene Mutation in a Korean Patient with NeuroferritinopathySo Hoon Yoon, Nan Young Kim, Yun Joong Kim, Chul Hyoung Lyoohttp://e-jmd.org/upload/jmd-18062.pdf, http://e-jmd.org/journal/view.php?doi=10.14802/jmd.18062, http://e-jmd.org/upload/jmd-18062.pdf
Movement Disorders10.1002/mds.224352008243441-445A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlationsAkatsuki Kubota, Ayumi Hida, Yaeko Ichikawa, Yoshio Momose, Jun Goto, Yukifusa Igeta, Hideji Hashida, Kunihiro Yoshida, Syu-Ichi Ikeda, Ichiro Kanazawa, Shoji Tsujihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.22435, https://onlinelibrary.wiley.com/doi/full/10.1002/mds.22435
Journal of the Neurological Sciences10.1016/j.jns.2014.03.06020143421-2173-177A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentationKatsuya Nishida, Holly J. Garringer, Naonobu Futamura, Itaru Funakawa, Kenji Jinnai, Ruben Vidal, Masaki Takaohttps://api.elsevier.com/content/article/PII:S0022510X14002238?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0022510X14002238?httpAccept=text/plain
Best Practice & Research Clinical Haematology10.1016/j.beha.2004.08.0212005182265-276Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutationS LEVI, A COZZI, P AROSIOhttps://api.elsevier.com/content/article/PII:S1521692604000878?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1521692604000878?httpAccept=text/plain
Insect Molecular Biology10.1111/j.1365-2583.2005.00556.x2005143263-270The ferritin light-chain homologue promoter in Aedes aegyptiD. Q.-D. Pham, C. A. Chavezhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2583.2005.00556.x
Clinical Genetics10.1111/j.1399-0004.2005.00535.x2005686561-563Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndromehttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2005.00535.x
Clinical and Experimental Dermatology10.1111/j.1365-2230.2011.04153.x201137128-30A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosisW. Liu, W. Xu, X. Yang, S. Lianhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2230.2011.04153.x
Nature10.1038/307749a019843075953749-752Novel κ light-chain gene rearrangements in mouse λ light chain-producing B lymphocytesJeannine Durdik, Mark W. Moore, Erik Selsinghttp://www.nature.com/articles/307749a0, http://www.nature.com/articles/307749a0.pdf, http://www.nature.com/articles/307749a0.pdf
Movement Disorders10.1002/mds.202802005202243-245Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy genePablo Mir, Mark J. Edwards, Andrew R.J. Curtis, Kailash P. Bhatia, Niall P. Quinnhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.20280, https://onlinelibrary.wiley.com/doi/full/10.1002/mds.20280
Journal of Cellular Biochemistry10.1002/jcb.22879201011161493-1500Insulin stimulates gene expression of ferritin light chain in osteoblast cellsSu Hee Han, Sethuraman Odathurai Saminathan, Sung-Jin Kimhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjcb.22879, https://onlinelibrary.wiley.com/doi/full/10.1002/jcb.22879