Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hujun, Jiang"'
Autor:
Faisal Fecto, George Gorrie, Kym M. Boycott, Yi Yang, Benjamin Rix Brooks, Robert L. Sufit, Enrico Mugnaini, Jonathan L. Haines, Nailah Siddique, Gerard H. Jansen, Makito Hirano, Wenjie Chen, Hujun Jiang, Seong-Tshool Hong, Evadnie Rampersaud, Kaouther Ajroud, Han Xiang Deng, Yong-Yong Shi, Eileen H. Bigio, Sandra Donkervoort, Margaret A. Pericak-Vance, Hong Zhai, Teepu Siddique
Publikováno v:
Nature. 477(7363)
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about 5-10% are familial. Mutations in superoxide dismutase 1 (SOD1), T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94975c97e04d02ee71d3132342e82c60
https://pubmed.ncbi.nlm.nih.gov/22092048
https://pubmed.ncbi.nlm.nih.gov/22092048
Autor:
Han-Xiang, Deng, Deng, Han-Xiang, Hujun, Jiang, Jiang, Hujun, Ronggen, Fu, Fu, Ronggen, Hong, Zhai, Zhai, Hong, Yong, Shi, Shi, Yong, Erdong, Liu, Liu, Erdong, Makito, Hirano, Hirano, Makito, Mauro C, Dal Canto, C Dal Canto, Mauro, Teepu, Siddique, Siddique, Teepu
Publikováno v:
Human Molecular Genetics
Mutations in Cu,Zn superoxide dismutase (SOD1) are associated with amyotrophic lateral sclerosis (ALS). Among more than 100 ALS-associated SOD1 mutations, premature termination codon (PTC) mutations exclusively occur in exon 5, the last exon of SOD1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2fef4c0d477fb853ff338a0e46c9e6
https://europepmc.org/articles/PMC2766822/
https://europepmc.org/articles/PMC2766822/
Autor:
Chaohong Fan, Zhigao Long, Daping Wang, Qian Pan, He Jun Li, Jiahui Xia, Lei Xu, Hujun Jiang, Jiangnan Zhou, Han Xiang Deng
Publikováno v:
Human genetics. 105(1-2)
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p. EXT1 and EXT2, the two genes responsible for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d3ea57a069b3e15af6b17f60b365ec
https://pubmed.ncbi.nlm.nih.gov/10480354
https://pubmed.ncbi.nlm.nih.gov/10480354
Autor:
Robert L. Sufit, Nailah Siddique, Teepu Siddique, Gerard H. Jansen, Wenjie Chen, Hujun Jiang, Jonathan L. Haines, Yong Shi, Sandra Donkervoort, Han Xiang Deng, Seong-Tshool Hong, Faisal Fecto, Kym M. Boycott, Benjamin Rix Brooks, George Gorrie, Enrico Mugnaini, Evadnie Rampersaud, Hong Zhai, Makito Hirano, Eileen H. Bigio, Yi Yang, Margaret A. Pericak-Vance, Kaouther Ajroud
Publikováno v:
Neurology. 78:S05.006-S05.006
Objective: To identify the genetic defect causing dominant X-linked ALS and ALS/dementia, and characterize the functional and pathological determinants. Background Most cases of ALS are sporadic but about 5-10% are familial. Mutations in SOD1, TDP43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70564c1930d63be837b2f677db1fb2af
https://doi.org/10.1212/wnl.78.1_meetingabstracts.s05.006
https://doi.org/10.1212/wnl.78.1_meetingabstracts.s05.006
Autor:
Deng HX; Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. h-deng@northwestern.edu, Jiang H, Fu R, Zhai H, Shi Y, Liu E, Hirano M, Dal Canto MC, Siddique T
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2008 Aug 01; Vol. 17 (15), pp. 2310-9. Date of Electronic Publication: 2008 Apr 18.