M. Chiara Manzini
M. Chiara Manzini
Rutgers-Robert Wood Johnson Medical School
Verified email at rutgers.edu - Homepage
Title
Cited by
Cited by
Year
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
2851998
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
1672012
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
1442011
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
1412013
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 Genet 7 (5), e1002062, 2011
1082011
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
962004
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
822001
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), 2016
752016
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
692009
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
572008
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
502014
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
472016
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, ...
PloS one 7 (8), e43794, 2012
442012
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
422014
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
422006
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
372010
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
282016
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
262019
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
252017
Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene
S Teber, T Sezer, M Kafalı, MC Manzini, BK Yüksel, M Tekin, S Fitöz, ...
European Journal of Paediatric Neurology 12 (2), 133-136, 2008
252008
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