Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity

by Marta Zamarbide, Adam W. Oaks, Heather L. Pond, Julia S. Adelman, M. Chiara Manzini, M. Chiara Manzini
Published 2018-03-01

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

by Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini
Published 2020-11-01

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

by Vandana A Gupta, Genri Kawahara, Jennifer A Myers, Aye T Chen, Thomas E Hall, M Chiara Manzini, Peter D Currie, Yi Zhou, Leonard I Zon, Louis M Kunkel, Alan H Beggs
Published 2012-01-01

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

by Cassandre Labelle-Dumais, David J Dilworth, Emily P Harrington, Michelle de Leau, David Lyons, Zhyldyz Kabaeva, M Chiara Manzini, William B Dobyns, Christopher A Walsh, Daniel E Michele, Douglas B Gould
Published 2011-05-01

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis

by Chiara Ardiccioni, Oliver B. Clarke, David Tomasek, Habon A. Issa, Desiree C. von Alpen, Heather L. Pond, Surajit Banerjee, Kanagalaghatta R. Rajashankar, Qun Liu, Ziqiang Guan, Chijun Li, Brian Kloss, Renato Bruni, Edda Kloppmann, Burkhard Rost, M. Chiara Manzini, Lawrence Shapiro, Filippo Mancia
Published 2016-01-01

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

by M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Published 2014-08-01