R
Ravi Battu
Researcher at St. John's University
Publications - 1
Citations - 229
Ravi Battu is an academic researcher from St. John's University. The author has contributed to research in topics: Congenital fibrosis of the extraocular muscles & Oculomotor nerve. The author has an hindex of 1, co-authored 1 publications receiving 210 citations.
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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
Koki Yamada,Caroline Andrews,Wai-Man Chan,Craig A. McKeown,Adriano Magli,Teresa de Berardinis,Anat Loewenstein,Moshe Lazar,Michael O'Keefe,Robert D. Letson,Arnold London,Mark S. Ruttum,Naomichi Matsumoto,Nakamichi Saito,Lisa Morris,Monte A. Del Monte,Roger H. Johnson,Eiichiro Uyama,Willem A. Houtman,Berendina De Vries,Thomas J. Carlow,Blaine L. Hart,Nicolas Krawiecki,John M. Shoffner,Marlene C. Vogel,James A. Katowitz,Scott M. Goldstein,Alex V. Levin,Emin Cumhur Sener,Banu T. Öztürk,A. Nurten Akarsu,Michael C. Brodsky,Frank Hanisch,Robert P. Cruse,Alina A. Zubcov,Richard M. Robb,Peter Roggenkäemper,Irene Gottlob,Lionel Kowal,Ravi Battu,Elias I. Traboulsi,Piergiorgio Franceschini,Anna Newlin,Joseph L. Demer,Elizabeth C. Engle +44 more
TL;DR: It is shown that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by Kif21A, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.