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Items: 6

1.

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
2.

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.

3.

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.

4.

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.

5.

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.

6.

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.

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