Maria Chiara Manzini

Affiliations: 
2013- Pharmacology The George Washington University, Washington, DC, United States 
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"Maria Manzini"
Mean distance: 14.55 (cluster 11)
 
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Parents

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Carol A. Mason grad student 1998-2006 Columbia
 (Roles of AMPA /KA-type glutamate receptor activation in differentiation and survival during neuronal development.)
Chris A. Walsh post-doc 2006-2013 Harvard Medical School, Beth Israel Deaconess Medical Center
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Publications

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Oaks AW, Zamarbide M, Tambunan DE, et al. (2016) Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cerebral Cortex (New York, N.Y. : 1991)
Manzini MC, Xiong L, Shaheen R, et al. (2014) CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Reports. 8: 647-55
Di Costanzo S, Balasubramanian A, Pond HL, et al. (2014) POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics. 23: 5781-92
Stevens E, Carss KJ, Cirak S, et al. (2013) Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65
Manzini MC, Tambunan DE, Hill RS, et al. (2012) Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7
Gupta VA, Kawahara G, Myers JA, et al. (2012) A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. Plos One. 7: e43794
Marangi G, Orteschi D, Vigevano F, et al. (2012) Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. American Journal of Medical Genetics. Part A. 158: 888-93
Di Blasi C, Bellafiore E, Salih MA, et al. (2011) Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. Bmc Research Notes. 4: 534
Labelle-Dumais C, Dilworth DJ, Harrington EP, et al. (2011) COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062
Manzini MC, Walsh CA. (2011) What disorders of cortical development tell us about the cortex: one plus one does not always make two. Current Opinion in Genetics & Development. 21: 333-9
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