Litcius/Paper detail

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Alina Kurolap, Florian Kreuder, Claudia Gonzaga‐Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Mahmud Rice, Clare L. van Eyk, Jozef Gécz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Włodkowic, Yeşim Parman, Ayşe Candayan, Elif Kocasoy‐Orhan, Anat Ilivitzki, Shiri Zayit‐Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Gil Ast, Vandana Shashi, Michael Fahey, Esra Battaloğlu, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman

2022The American Journal of Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

BiologyHypotoniaNeuriteCell adhesion moleculeNeuroscienceNervous systemCentral nervous systemSynaptogenesisCell biologyGeneticsIn vitroCellular transport and secretionCellular Mechanics and InteractionsCell Adhesion Molecules Research