Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders

por Mossa, Adele, Manzini, M. Chiara
Publicado 2019

Translating genetic and preclinical findings into autism therapies

por Chahrour, Maria, Kleiman, Robin J., Manzini, M. Chiara
Publicado 2017

Isolation and Culture of Post-Natal Mouse Cerebellar Granule Neuron Progenitor Cells and Neurons

por Lee, Hae Young, Greene, Lloyd A., Mason, Carol A., Manzini, M. Chiara
Publicado 2009

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

por Zamarbide, Marta, Oaks, Adam W., Pond, Heather L., Adelman, Julia S., Manzini, M. Chiara
Publicado 2018

Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

por Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Publicado 2012

Capillary Electrophoresis Mass Spectrometry for Scalable Single-Cell Proteomics

por Shen, Bowen, Pade, Leena R., Choi, Sam B., Muñoz-LLancao, Pablo, Manzini, M. Chiara, Nemes, Peter
Publicado 2022

Cc2d1b Contributes to the Regulation of Developmental Myelination in the Central Nervous System

por Acheta, Jenica, Hong, Jiayue, Jeanette, Haley, Brar, Simrandeep, Yalamanchili, Anish, Feltri, M. Laura, Manzini, M. Chiara, Belin, Sophie, Poitelon, Yannick
Publicado 2022

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

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

Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function

por Shukla, Dhyanam, Gural, Brian M., Cauley, Edmund S., Battula, Namarata, Mowla, Shorbon, Karas, Brittany F., Roberts, Llion E., Cavallo, Luca, Turkalj, Luka, Moody, Sally A., Swan, Laura E., Manzini, M. Chiara
Publicado 2023

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

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

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

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

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

por Di Blasi, Claudia, Bellafiore, Emanuela, Salih, Mustafa AM, Manzini, M Chiara, Moore, Steven A, Seidahmed, Mohammed Z, Mukhtar, Maowia M, Karrar, Zein A, Walsh, Christopher A, Campbell, Kevin P, Mantegazza, Renato, Morandi, Lucia, Mora, Marina
Publicado 2011

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

por Manzini, M Chiara, Rajab, Anna, Maynard, Thomas M, Mochida, Ganeshwaran H, Tan, Wen-Hann, Nasir, Ramzi, Hill, R Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N, Barry, Brenda J, Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A
Publicado 2010

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

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

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

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

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

por del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago
Publicado 2020

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

por Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
Publicado 2017