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Items: 34

1.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

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, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.

Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.

PMID:
31585108
2.

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

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.

Neurogenetics. 2019 May;20(2):91-98. doi: 10.1007/s10048-019-00577-2. Epub 2019 Apr 13.

PMID:
30982090
3.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

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, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.

Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29.

PMID:
30923367
4.

Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos.

Lombard-Banek C, Moody SA, Manzini MC, Nemes P.

Anal Chem. 2019 Apr 2;91(7):4797-4805. doi: 10.1021/acs.analchem.9b00345. Epub 2019 Mar 18.

PMID:
30827088
5.

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability.

Zamarbide M, Mossa A, Muñoz-Llancao P, Wilkinson MK, Pond HL, Oaks AW, Manzini MC.

Biol Psychiatry. 2019 May 1;85(9):760-768. doi: 10.1016/j.biopsych.2018.12.013. Epub 2018 Dec 27.

PMID:
30732858
6.

Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity.

Zamarbide M, Oaks AW, Pond HL, Adelman JS, Manzini MC.

Front Genet. 2018 Mar 2;9:65. doi: 10.3389/fgene.2018.00065. eCollection 2018.

7.

Translating genetic and preclinical findings into autism therapies.

Chahrour M, Kleiman RJ, Manzini MC.

Dialogues Clin Neurosci. 2017 Dec;19(4):335-343. Review.

8.

Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry.

Choi SB, Lombard-Banek C, Muñoz-LLancao P, Manzini MC, Nemes P.

J Am Soc Mass Spectrom. 2018 May;29(5):913-922. doi: 10.1007/s13361-017-1838-1. Epub 2017 Nov 16.

PMID:
29147852
9.

Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior.

Vahid-Ansari F, Daigle M, Manzini MC, Tanaka KF, Hen R, Geddes SD, Béïque JC, James J, Merali Z, Albert PR.

J Neurosci. 2017 Dec 6;37(49):11967-11978. doi: 10.1523/JNEUROSCI.1668-17.2017. Epub 2017 Nov 3.

10.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, 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, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.

Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.

11.

Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain.

Maynard TM, Manzini MC.

Neuron. 2017 Feb 8;93(3):476-479. doi: 10.1016/j.neuron.2017.01.015.

12.

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.

Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC.

J Neurosci. 2016 Nov 9;36(45):11402-11410. Review.

13.

Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex.

Choi SB, Zamarbide M, Manzini MC, Nemes P.

J Am Soc Mass Spectrom. 2017 Apr;28(4):597-607. doi: 10.1007/s13361-016-1532-8. Epub 2016 Nov 16.

PMID:
27853976
14.

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

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.

Cereb Cortex. 2017 Feb 1;27(2):1670-1685. doi: 10.1093/cercor/bhw009.

15.

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.

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, Shapiro L, Mancia F.

Nat Commun. 2016 Jan 5;7:10175. doi: 10.1038/ncomms10175.

16.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

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, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.

Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24.

17.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

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.

Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.

18.

Peptide:lipid ratio and membrane surface charge determine the mechanism of action of the antimicrobial peptide BP100. Conformational and functional studies.

Manzini MC, Perez KR, Riske KA, Bozelli JC Jr, Santos TL, da Silva MA, Saraiva GK, Politi MJ, Valente AP, Almeida FC, Chaimovich H, Rodrigues MA, Bemquerer MP, Schreier S, Cuccovia IM.

Biochim Biophys Acta. 2014 Jul;1838(7):1985-99. doi: 10.1016/j.bbamem.2014.04.004. Epub 2014 Apr 15.

19.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

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, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.

20.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

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, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.

Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.

21.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

22.

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G.

Am J Med Genet A. 2012 Apr;158A(4):888-93. doi: 10.1002/ajmg.a.35254. Epub 2012 Mar 14.

23.

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

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.

BMC Res Notes. 2011 Dec 13;4:534. doi: 10.1186/1756-0500-4-534.

24.

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB.

PLoS Genet. 2011 May;7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19.

25.

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Manzini MC, Walsh CA.

Curr Opin Genet Dev. 2011 Jun;21(3):333-9. doi: 10.1016/j.gde.2011.01.006. Epub 2011 Feb 1. Review.

26.

Developmental and degenerative features in a complicated spastic paraplegia.

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.

Ann Neurol. 2010 Apr;67(4):516-25. doi: 10.1002/ana.21923.

27.

Isolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons.

Lee HY, Greene LA, Mason CA, Manzini MC.

J Vis Exp. 2009 Jan 16;(23). pii: 990. doi: 10.3791/990.

28.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

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, Dobyns WB, Walsh CA.

Hum Mutat. 2008 Nov;29(11):E231-41. doi: 10.1002/humu.20844.

29.

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.

Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME.

Am J Med Genet A. 2007 Dec 1;143A(23):2761-7.

PMID:
17975804
30.

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G.

Eur J Paediatr Neurol. 2008 Mar;12(2):133-6. Epub 2007 Sep 18.

PMID:
17881266
31.

Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development.

Manzini MC, Joseph DJ, MacDermott AB, Mason CA.

Mol Cell Neurosci. 2007 Jun;35(2):328-38. Epub 2007 Mar 24.

32.

The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth.

Manzini MC, Ward MS, Zhang Q, Lieberman MD, Mason CA.

J Neurosci. 2006 May 31;26(22):6040-51.

33.

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

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, Torricelli F, Zuffardi O, Toniolo D.

Hum Reprod. 2004 Dec;19(12):2759-66. Epub 2004 Sep 30.

PMID:
15459172
34.

Kainate receptors expressed by a subpopulation of developing nociceptors rapidly switch from high to low Ca2+ permeability.

Lee CJ, Kong H, Manzini MC, Albuquerque C, Chao MV, MacDermott AB.

J Neurosci. 2001 Jul 1;21(13):4572-81.

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