Monani UR - Search Results

1

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW. Parsons DW, et al. Among authors: monani ur. Hum Mol Genet. 1996 Nov;5(11):1727-32. doi: 10.1093/hmg/5.11.1727. Hum Mol Genet. 1996. PMID: 8922999

2

A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.

Caine C, Shohat M, Kim JK, Nakanishi K, Homma S, Mosharov EV, Monani UR. Caine C, et al. Among authors: monani ur. Hum Mol Genet. 2017 Nov 15;26(22):4406-4415. doi: 10.1093/hmg/ddx326. Hum Mol Genet. 2017. PMID: 28973165 Free PMC article.

3

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.

Kim JK, Caine C, Awano T, Herbst R, Monani UR. Kim JK, et al. Among authors: monani ur. Hum Mol Genet. 2017 Jul 1;26(13):2377-2385. doi: 10.1093/hmg/ddx124. Hum Mol Genet. 2017. PMID: 28379354 Free PMC article.

4

Spinal muscular atrophy: journeying from bench to bedside.

Awano T, Kim JK, Monani UR. Awano T, et al. Among authors: monani ur. Neurotherapeutics. 2014 Oct;11(4):786-95. doi: 10.1007/s13311-014-0293-y. Neurotherapeutics. 2014. PMID: 24990202 Free PMC article. Review.

5

Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy.

Kim JK, Monani UR. Kim JK, et al. Among authors: monani ur. Neuron. 2018 Mar 7;97(5):1001-1003. doi: 10.1016/j.neuron.2018.02.009. Neuron. 2018. PMID: 29518354 Free article. Review.

6

Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy.

Lee AJ, Awano T, Park GH, Monani UR. Lee AJ, et al. Among authors: monani ur. PLoS One. 2012;7(9):e46353. doi: 10.1371/journal.pone.0046353. Epub 2012 Sep 27. PLoS One. 2012. PMID: 23029491 Free PMC article.

7

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies.

Kariya S, Re DB, Jacquier A, Nelson K, Przedborski S, Monani UR. Kariya S, et al. Among authors: monani ur. Hum Mol Genet. 2012 Aug 1;21(15):3421-34. doi: 10.1093/hmg/dds174. Epub 2012 May 11. Hum Mol Genet. 2012. PMID: 22581780 Free PMC article.

8

A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy.

Ruggiu M, McGovern VL, Lotti F, Saieva L, Li DK, Kariya S, Monani UR, Burghes AH, Pellizzoni L. Ruggiu M, et al. Among authors: monani ur. Mol Cell Biol. 2012 Jan;32(1):126-38. doi: 10.1128/MCB.06077-11. Epub 2011 Oct 28. Mol Cell Biol. 2012. PMID: 22037760 Free PMC article.

9

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.

Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR. Kariya S, et al. Among authors: monani ur. Hum Mol Genet. 2008 Aug 15;17(16):2552-69. doi: 10.1093/hmg/ddn156. Epub 2008 May 20. Hum Mol Genet. 2008. PMID: 18492800 Free PMC article.

10

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.

Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE, Burghes AH. Gavrilina TO, et al. Among authors: monani ur. Hum Mol Genet. 2008 Apr 15;17(8):1063-75. doi: 10.1093/hmg/ddm379. Epub 2008 Jan 4. Hum Mol Genet. 2008. PMID: 18178576 Free PMC article.

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