M. Chiara Manzini
M. Chiara Manzini
Rutgers-Robert Wood Johnson Medical School
Verified email at - Homepage
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A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and …
S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ...
The American Journal of Human Genetics 62 (3), 533-541, 1998
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
MC Manzini, DE Tambunan, RS Hill, WY Tim, TM Maynard, EL Heinzen, ...
The American Journal of Human Genetics 91 (3), 541-547, 2012
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan
E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ...
The American Journal of Human Genetics 92 (3), 354-365, 2013
What disorders of cortical development tell us about the cortex: one plus one does not always make two
MC Manzini, CA Walsh
Current opinion in genetics & development 21 (3), 333-339, 2011
Structure of the STRA6 receptor for retinol uptake
Y Chen, OB Clarke, J Kim, S Stowe, YK Kim, Z Assur, M Cavalier, ...
Science 353 (6302), aad8266, 2016
COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans
C Labelle-Dumais, DJ Dilworth, EP Harrington, M de Leau, D Lyons, ...
PLoS genetics 7 (5), e1002062, 2011
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B
S Bione, F Rizzolio, C Sala, R Ricotti, M Goegan, MC Manzini, R Battaglia, ...
Human reproduction 19 (12), 2759-2766, 2004
Microsampling capillary electrophoresis mass spectrometry enables single-cell proteomics in complex tissues: developing cell clones in live Xenopus laevis and zebrafish embryos
C Lombard-Banek, SA Moody, MC Manzini, P Nemes
Analytical chemistry 91 (7), 4797-4805, 2019
Isolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons
HY Lee, LA Greene, CA Mason, MC Manzini
JoVE (Journal of Visualized Experiments), e990, 2009
Kainate receptors expressed by a subpopulation of developing nociceptors rapidly switch from high to low Ca2+ permeability
CJ Lee, H Kong, MC Manzini, C Albuquerque, MV Chao, AB MacDermott
Journal of Neuroscience 21 (13), 4572-4581, 2001
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
S Di Costanzo, A Balasubramanian, HL Pond, A Rozkalne, C Pantaleoni, ...
Human molecular genetics 23 (21), 5781-5792, 2014
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis
MC Manzini, L Xiong, R Shaheen, DE Tambunan, S Di Costanzo, ...
Cell reports 8 (3), 647-655, 2014
Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
M Chiara Manzini, D Gleason, BS Chang, R Sean Hill, BJ Barry, ...
Human mutation 29 (11), E231-E241, 2008
Current perspectives in autism spectrum disorder: from genes to therapy
M Chahrour, BJ O'Roak, E Santini, RC Samaco, RJ Kleiman, MC Manzini
Journal of Neuroscience 36 (45), 11402-11410, 2016
Tapered-tip capillary electrophoresis nano-electrospray ionization mass spectrometry for ultrasensitive proteomics: the mouse cortex
SB Choi, M Zamarbide, MC Manzini, P Nemes
Journal of the American Society for Mass Spectrometry 28 (4), 597-607, 2016
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish
VA Gupta, G Kawahara, JA Myers, AT Chen, TE Hall, MC Manzini, ...
Public Library of Science 7 (8), e43794, 2012
Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjögren syndrome and dystroglycanopathy
DPS Osborn, HL Pond, N Mazaheri, J Dejardin, CJ Munn, K Mushref, ...
The American Journal of Human Genetics 100 (3), 537-545, 2017
The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth
MC Manzini, MS Ward, Q Zhang, MD Lieberman, CA Mason
Journal of Neuroscience 26 (22), 6040-6051, 2006
Developmental and degenerative features in a complicated spastic paraplegia
MC Manzini, A Rajab, TM Maynard, GH Mochida, WH Tan, R Nasir, ...
Annals of neurology 67 (4), 516-525, 2010
Abrogated Freud-1/Cc2d1a repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/depression-like behavior
F Vahid-Ansari, M Daigle, MC Manzini, KF Tanaka, R Hen, SD Geddes, ...
Journal of neuroscience 37 (49), 11967-11978, 2017
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