M. Chiara Manzini

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Coauteurs

Christopher A WalshBoston Children's HospitalAdresse e-mail validée de childrens.harvard.edu
Mustafa SalihProfessor, Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, SaudiAdresse e-mail validée de ksu.edu.sa
Peter NemesUniversity of Maryland, College ParkAdresse e-mail validée de umd.edu
Vandana A GuptaBrigham and Women's HospitalAdresse e-mail validée de research.bwh.harvard.edu
Daniela TonioloHead, Genetics of Common Disorders Unit, San Raffaele Scientific Institute, Milano, ItalyAdresse e-mail validée de hsr.it
Marta Zamarbide GonzálezAdresse e-mail validée de unav.es
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton CenterAdresse e-mail validée de enders.tch.harvard.edu
Thomas MaynardVirginia Tech Carilion, Fralin Biomedical Research InstituteAdresse e-mail validée de vtc.vt.edu
Stefania Di CostanzoPhD, University of California San DiegoAdresse e-mail validée de ucsd.edu
Pablo Muñoz LLancaoYale UniversityAdresse e-mail validée de yale.edu
Orsetta ZuffardiProfessor Emeritus of Human Genetics Department of Molecular Medicine University of Pavia ViaAdresse e-mail validée de unipv.it
Kevin P CampbellChair, Molecular Physiology and Biophysics, Howard Hughes Medical Institute, Carver College ofAdresse e-mail validée de uiowa.edu
Erin HeinzenAssociate Professor, Eshelman School of PharmacyAdresse e-mail validée de unc.edu
Kevin V ShiannaNew York Genome CenterAdresse e-mail validée de nygenome.org
Abdelkarim A. Al-QudahProfessor of Pediatric NeurologyAdresse e-mail validée de ju.edu.jo
Reza MaroofianThe UCL Queen Square Institute of NeurologyAdresse e-mail validée de ucl.ac.uk
Sandro BanfiUniversita' della Campania "Luigi Vanvitelli" and TIGEM, ItalyAdresse e-mail validée de unina2.it
ZUCCOTTI MAURIZIOUniversity of PaviaAdresse e-mail validée de unipv.it
Giuseppe BorsaniProfessor of Genetics, Università di BresciaAdresse e-mail validée de unibs.it
Sebahattin CirakProfessor, Uniklinikum Ulm, Klinik für Kinder- und Jugendmedizin, Sozialpädiatrisches ZentrumAdresse e-mail validée de uniklinik-ulm.de

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M. Chiara Manzini

Rutgers-Robert Wood Johnson Medical School

Adresse e-mail validée de rutgers.edu - Page d'accueil

Neurogenetics Brain malformations Autism


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	349	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	215	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	197	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	181	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	159	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	149	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	129	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	125	2019
Isolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons HY Lee, LA Greene, CA Mason, MC Manzini Journal of visualized experiments: JoVE, 990, 2009	107	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	99	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	81	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	79	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	74	2008
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	70	2012
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	68	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	67	2016
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	64	2017
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	50	2017
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	48	2010
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	48	2006

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