PMC Articles for MedGen (Select 894160) - PMC

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Items: 4

Select item 68000981.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Alexander Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehead, Steven A. Moore, Adeline Vanderver

J Child Neurol. Author manuscript; available in PMC 2019 Oct 18.

Published in final edited form as: J Child Neurol. 2018 Sep; 33(10): 642–650. Published online 2018 Jun 8. doi: 10.1177/0883073818776157

PMCID:: PMC6800098

Abstract Article PDF–1.9M

Select item 71749472.

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

Sandra Sabbagh, Stephanie Antoun, André Mégarbané

Case Rep Med. 2020; 2020: 8795607. Published online 2020 Apr 13. doi: 10.1155/2020/8795607

PMCID:: PMC7174947

Abstract Article PDF–432K

Select item 77610763.

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy

Anna Letko, Katie M. Minor, Steven G. Friedenberg, G. Diane Shelton, Jill Pesayco Salvador, Paul J. J. Mandigers, Peter A. J. Leegwater, Paige A. Winkler, Simon M. Petersen-Jones, Bryden J. Stanley, Kari J. Ekenstedt, Gary S. Johnson, Liz Hansen, Vidhya Jagannathan, James R. Mickelson, Cord Drögemüller

Genes (Basel) 2020 Dec; 11(12): 1426. Published online 2020 Nov 27. doi: 10.3390/genes11121426