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Maria Chiara Manzini - Publications

Affiliations: 
2013-2019 Pharmacology The George Washington University, Washington, DC, United States 
 2019- Neuroscience Rutgers Robert Wood Johnson Medical School 
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38/39 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC. Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. Molecular Genetics & Genomic Medicine. e1387. PMID 32936536 DOI: 10.1002/Mgg3.1387  0.493
2020 Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, et al. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32461667 DOI: 10.1038/s41436-020-0833-2  0.349
2020 Saredi S, Cauley ES, Ruggieri A, Spivey TM, Ardissone A, Mora M, Moroni I, Manzini MC. Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK. Muscle & Nerve. 62: 266-271. PMID 32363625 DOI: 10.1002/mus.26907  0.471
2020 Manzini MC, Mossa A, Choi S, Nemes P. Male-Specific Intracellular Signaling in Sex-Bias in Neurodevelopmental Disorders Biological Psychiatry. 87: S65-S66. DOI: 10.1016/J.Biopsych.2020.02.189  0.324
2019 Mossa A, Manzini MC. Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders. Journal of Neuroscience Research. PMID 31872500 DOI: 10.1002/jnr.24577  0.385
2019 Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, ... ... Manzini MC, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853. PMID 31585108 DOI: 10.1016/J.Ajhg.2019.08.013  0.61
2019 Cauley ES, Hamed A, Mohamed IN, Elseed M, Martinez S, Yahia A, Abozar F, Abubakr R, Koko M, Elsayed L, Piao X, Salih MA, Manzini MC. Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. Neurogenetics. 20: 91-98. PMID 30982090 DOI: 10.1007/S10048-019-00577-2  0.509
2019 Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, ... ... Manzini MC, et al. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30923367 DOI: 10.1038/s41436-019-0473-6  0.421
2018 Zamarbide M, Mossa A, Muñoz-Llancao P, Wilkinson MK, Pond HL, Oaks AW, Manzini MC. Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. Biological Psychiatry. PMID 30732858 DOI: 10.1016/J.Biopsych.2018.12.013  0.758
2018 Zamarbide M, Oaks AW, Pond HL, Adelman JS, Manzini MC. Loss of the Intellectual Disability and Autism Geneand Its HomologDifferentially Affect Spatial Memory, Anxiety, and Hyperactivity. Frontiers in Genetics. 9: 65. PMID 29552027 DOI: 10.3389/Fgene.2018.00065  0.795
2017 Choi SB, Lombard-Banek C, Muñoz-LLancao P, Manzini MC, Nemes P. Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry. Journal of the American Society For Mass Spectrometry. PMID 29147852 DOI: 10.1007/S13361-017-1838-1  0.302
2017 Vahid-Ansari F, Daigle M, Manzini MC, Tanaka KF, Hen R, Geddes SD, Béïque JC, James J, Merali Z, Albert PR. Abrogated Freud-1/CC2D1A repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/depression-like behavior. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 29101244 DOI: 10.1523/Jneurosci.1668-17.2017  0.276
2017 Osborn DP, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, ... ... Manzini MC, et al. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. American Journal of Human Genetics. PMID 28190459 DOI: 10.1016/j.ajhg.2017.01.019  0.509
2017 Maynard TM, Manzini MC. Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain. Neuron. 93: 476-479. PMID 28182903 DOI: 10.1016/J.Neuron.2017.01.015  0.361
2016 Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC. Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 11402-11410. PMID 27911742 DOI: 10.1523/Jneurosci.2335-16.2016  0.754
2016 Choi SB, Zamarbide M, Manzini MC, Nemes P. Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex. Journal of the American Society For Mass Spectrometry. PMID 27853976 DOI: 10.1007/S13361-016-1532-8  0.72
2016 Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC. 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). PMID 26826102 DOI: 10.1093/Cercor/Bhw009  0.731
2016 Ardiccioni C, Clarke OB, Tomasek D, Issa HA, von Alpen DC, Pond HL, Banerjee S, Rajashankar KR, Liu Q, Guan Z, Li C, Kloss B, Bruni R, Kloppmann E, Rost B, ... Manzini MC, et al. Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis. Nature Communications. 7: 10175. PMID 26729507 DOI: 10.1038/Ncomms10175  0.287
2014 Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, et al. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Reports. 8: 647-55. PMID 25066123 DOI: 10.1016/j.celrep.2014.06.039  0.756
2014 Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics. 23: 5781-92. PMID 24925318 DOI: 10.1093/hmg/ddu296  0.765
2013 Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, ... ... Manzini MC, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65. PMID 23453667 DOI: 10.1016/J.Ajhg.2013.01.016  0.791
2012 Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, et al. 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. PMID 22958903 DOI: 10.1016/J.Ajhg.2012.07.009  0.786
2012 Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH. A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. Plos One. 7: e43794. PMID 22952766 DOI: 10.1371/Journal.Pone.0043794  0.461
2012 Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G. 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. PMID 22419660 DOI: 10.1002/ajmg.a.35254  0.569
2011 Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, Mora M. Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. Bmc Research Notes. 4: 534. PMID 22166137 DOI: 10.1186/1756-0500-4-534  0.588
2011 Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062. PMID 21625620 DOI: 10.1371/Journal.Pgen.1002062  0.669
2011 Manzini MC, Walsh CA. 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. PMID 21288712 DOI: 10.1016/j.gde.2011.01.006  0.533
2010 Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Developmental and degenerative features in a complicated spastic paraplegia. Annals of Neurology. 67: 516-25. PMID 20437587 DOI: 10.1002/Ana.21923  0.613
2010 Manzini M, Mitsialis V, Tischfield D. [P2.12]: The role of CC2D1A in the aetiology of intellectual disability International Journal of Developmental Neuroscience. 28: 689-689. DOI: 10.1016/j.ijdevneu.2010.07.142  0.241
2009 Lee HY, Greene LA, Mason CA, Manzini MC. Isolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons. Journal of Visualized Experiments : Jove. PMID 19229177 DOI: 10.3791/990  0.574
2009 Manzini M, Gleason D, Chang B, Hill R, Partlow J, Barry B, Poduri A, Basel-Vanagaite L, Seidhamed M, Salih M, Dobyns W, Walsh C. EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations Neuromuscular Disorders. 19: 552-553. DOI: 10.1016/J.Nmd.2009.06.033  0.527
2008 Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Human Mutation. 29: E231-41. PMID 18752264 DOI: 10.1002/Humu.20844  0.776
2008 Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G. Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 12: 133-6. PMID 17881266 DOI: 10.1016/j.ejpn.2007.06.008  0.621
2007 Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. American Journal of Medical Genetics. Part A. 143: 2761-7. PMID 17975804 DOI: 10.1002/ajmg.a.31955  0.541
2007 Manzini MC, Joseph DJ, MacDermott AB, Mason CA. Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development. Molecular and Cellular Neurosciences. 35: 328-38. PMID 17478096 DOI: 10.1016/J.Mcn.2007.03.010  0.537
2006 Manzini MC, Ward MS, Zhang Q, Lieberman MD, Mason CA. The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 6040-51. PMID 16738247 DOI: 10.1523/Jneurosci.4815-05.2006  0.692
2004 Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Human Reproduction (Oxford, England). 19: 2759-66. PMID 15459172 DOI: 10.1093/humrep/deh502  0.407
2001 Lee CJ, Kong H, Manzini MC, Albuquerque C, Chao MV, MacDermott AB. Kainate receptors expressed by a subpopulation of developing nociceptors rapidly switch from high to low Ca2+ permeability. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 4572-81. PMID 11425885 DOI: 10.1523/Jneurosci.21-13-04572.2001  0.253
Low-probability matches (unlikely to be authored by this person)
2014 Manzini MC, Perez KR, Riske KA, Bozelli JC, Santos TL, da Silva MA, Saraiva GK, Politi MJ, Valente AP, Almeida FC, Chaimovich H, Rodrigues MA, Bemquerer MP, Schreier S, Cuccovia IM. Peptide:lipid ratio and membrane surface charge determine the mechanism of action of the antimicrobial peptide BP100. Conformational and functional studies. Biochimica Et Biophysica Acta. 1838: 1985-99. PMID 24743023 DOI: 10.1016/J.Bbamem.2014.04.004  0.046
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