Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)-Reference-Cited by-同舟云学术

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Published:2003-11-02 Issue:4 Volume:35 Page:318-321
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Yamada Koki,Andrews Caroline,Chan Wai-Man,McKeown Craig A,Magli Adriano,de Berardinis Teresa,Loewenstein Anat,Lazar Moshe,O'Keefe Michael,Letson Robert,London Arnold,Ruttum Mark,Matsumoto Naomichi,Saito Nakamichi,Morris Lisa,Monte Monte Del,Johnson Roger H,Uyama Eiichiro,Houtman Willem A,de Vries Berendina,Carlow Thomas J,Hart Blaine L,Krawiecki Nicolas,Shoffner John,Vogel Marlene C,Katowitz James,Goldstein Scott M,Levin Alex V,Sener Emin C,Ozturk Banu T,Akarsu A Nurten,Brodsky Michael C,Hanisch Frank,Cruse Robert P,Zubcov Alina A,Robb Richard M,Roggenkäemper Peter,Gottlob Irene,Kowal Lionel,Battu Ravi,Traboulsi Elias I,Franceschini Piergiorgio,Newlin Anna,Demer Joseph L,Engle Elizabeth C

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1261.pdf

Reference15 articles.

1. Engle, E.C. et al. Ann. Neurol. 41, 314–325 (1997).

2. Engle, E.C., Kunkel, L.M., Specht, L.A. & Beggs, A.H. Nat. Genet. 7, 69–73 (1994).

3. Engle, E.C. et al. Am. J. Hum. Genet. 57, 1086–1094 (1995).

4. Engle, E.C. et al. BMC Genet. 3, 3 (2002).

5. Uyama, E. et al. Neuromuscul. Disord. 13, 472–478 (2003).

Cited by 231 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles;Orphanet Journal of Rare Diseases;2024-08-15

2. Congenital cranial dysinnervation disorder with homozygous KIF26A variant;Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-08

3. Evolution and development of extraocular motor neurons, nerves and muscles in vertebrates;Annals of Anatomy - Anatomischer Anzeiger;2024-04

4. MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis;Graefe's Archive for Clinical and Experimental Ophthalmology;2024-03-26

5. Tubulin CFEOM mutations both inhibit or activate kinesin motor activity;Molecular Biology of the Cell;2024-03-01