Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos
Lombard-Banek, Camille, Moody, Sally A, Manzini, M. Chiara, Nemes, Peter
Published in Analytical chemistry (Washington) (02.04.2019)
Published in Analytical chemistry (Washington) (02.04.2019)
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Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
Karas, Brittany F, Terez, Kristin R, Mowla, Shorbon, Battula, Namarata, Flannery, Kyle P, Gural, Brian M, Aboussleman, Grace, Mubin, Numa, Manzini, M Chiara
Published in Human molecular genetics (08.04.2024)
Published in Human molecular genetics (08.04.2024)
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Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits
Oaks, Adam W, Zamarbide, Marta, Tambunan, Dimira E, Santini, Emanuela, Di Costanzo, Stefania, Pond, Heather L, Johnson, Mark W, Lin, Jeff, Gonzalez, Dilenny M, Boehler, Jessica F, Wu, Guangying K, Klann, Eric, Walsh, Christopher A, Manzini, M Chiara
Published in Cerebral cortex (New York, N.Y. 1991) (01.02.2017)
Published in Cerebral cortex (New York, N.Y. 1991) (01.02.2017)
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior
Vahid-Ansari, Faranak, Daigle, Mireille, Manzini, M Chiara, Tanaka, Kenji F, Hen, René, Geddes, Sean D, Béïque, Jean-Claude, James, Jonathan, Merali, Zul, Albert, Paul R
Published in The Journal of neuroscience (06.12.2017)
Published in The Journal of neuroscience (06.12.2017)
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CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis
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.
Published in Cell reports (Cambridge) (07.08.2014)
Published in Cell reports (Cambridge) (07.08.2014)
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
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
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
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
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S, Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M, Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O'Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza, Silver, David L
Published in European journal of human genetics : EJHG (01.11.2020)
Published in European journal of human genetics : EJHG (01.11.2020)
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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans
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
Published in PLoS genetics (01.05.2011)
Published in PLoS genetics (01.05.2011)
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Standardization of zebrafish drug testing parameters for muscle diseases
Karuppasamy, Muthukumar, English, Katherine G, Henry, Clarissa A, Manzini, M Chiara, Parant, John M, Wright, Melissa A, Ruparelia, Avnika A, Currie, Peter D, Gupta, Vandana A, Dowling, James J, Maves, Lisa, Alexander, Matthew S
Published in Disease models & mechanisms (01.01.2024)
Published in Disease models & mechanisms (01.01.2024)
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Cc2d1b Contributes to the Regulation of Developmental Myelination in the Central Nervous System
Acheta, Jenica, Hong, Jiayue, Jeanette, Haley, Brar, Simrandeep, Yalamanchili, Anish, Feltri, M Laura, Manzini, M Chiara, Belin, Sophie, Poitelon, Yannick
Published in Frontiers in molecular neuroscience (03.05.2022)
Published in Frontiers in molecular neuroscience (03.05.2022)
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Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis
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
Published in Nature communications (05.01.2016)
Published in Nature communications (05.01.2016)
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Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity
Zamarbide, Marta, Oaks, Adam W, Pond, Heather L, Adelman, Julia S, Manzini, M Chiara
Published in Frontiers in genetics (02.03.2018)
Published in Frontiers in genetics (02.03.2018)
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A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish
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
Published in PloS one (27.08.2012)
Published in PloS one (27.08.2012)
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
Chiara Manzini, M, Gleason, Danielle, Chang, Bernard S, Sean Hill, R, Barry, Brenda J, Partlow, Jennifer N, Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R, Schmidt, Karen, Davis, Jessica G, Basel-Vanagaite, Lina, Seidahmed, Mohamed Z, Salih, Mustafa A.M, Dobyns, William B, Walsh, Christopher A
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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Exploring emotional contagion in zebrafish: A virtual-demonstrator study of positive and negative emotions
Burbano, Daniel, Senthilkumar, Sahana, Manzini, M Chiara
Published in Behavioural processes (01.11.2023)
Published in Behavioural processes (01.11.2023)
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