Recurrent Mutation of the KIF21A Gene in Japanese Patients with Congenital Fibrosis of the Extraocular Muscles

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

Koki Yamada, Caroline Andrews, Wai‐Man Chan et al. · Nature Genetics · 2003 · 262 citations

Medicine, Genetics, Molecular Genetics +14

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Motoi Nakano, Koki Yamada, Jennifer Fain et al. · Nature Genetics · 2001 · 221 citations

Medicine, Genetics, Molecular Genetics +12

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

Elizabeth C. Engle, Boyan C. Goumnerov, Craig A. McKeown et al. · Annals of Neurology · 1997 · 175 citations

Medicine, Neuroscience, Ophthalmology +17

Novel Dendritic Kinesin Sorting Identified by Different Process Targeting of Two Related Kinesins: KIF21A and KIF21B

Joseph R. Marszalek, Joshua A. Weiner, Samuel J. Farlow et al. · The Journal of Cell Biology · 1999 · 165 citations · Full text

Life Sciences, Cell Biology, Neuroscience +17

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

E J Doherty, Margaret E. Macy, S.M. Wang et al. · PubMed · 1999 · 104 citations

Life Sciences, Genetics, Ophthalmology +15