DiDonato CJ - Search Results

1

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley RT 3rd, Florence J, Burghes AH. DiDonato CJ, et al. Ann Neurol. 1997 Feb;41(2):230-7. doi: 10.1002/ana.410410214. Ann Neurol. 1997. PMID: 9029072

2

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AH. Wirth B, et al. Among authors: didonato cj. Hum Mol Genet. 1995 Aug;4(8):1273-84. doi: 10.1093/hmg/4.8.1273. Hum Mol Genet. 1995. PMID: 7581364

3

A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region.

Carpten JD, DiDonato CJ, Ingraham SE, Wagner-McPherson C, Nieuwenhuijsen BW, Wasmuth JJ, Burghes AH. Carpten JD, et al. Among authors: didonato cj. Genomics. 1994 Nov 15;24(2):351-6. doi: 10.1006/geno.1994.1626. Genomics. 1994. PMID: 7698758 Free article.

4

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AH, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ. Thompson TG, et al. Among authors: didonato cj. Nat Genet. 1995 Jan;9(1):56-62. doi: 10.1038/ng0195-56. Nat Genet. 1995. PMID: 7704025

5

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, Wirth B, Zerres K, Hurko O, et al. DiDonato CJ, et al. Am J Hum Genet. 1994 Dec;55(6):1218-29. Am J Hum Genet. 1994. PMID: 7977383 Free PMC article.

6

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

Burghes AH, Ingraham SE, McLean M, Thompson TG, McPherson JD, Kote-Jarai Z, Carpten JD, DiDonato CJ, Ikeda JE, Surh L, et al. Burghes AH, et al. Among authors: didonato cj. Genomics. 1994 May 15;21(2):394-402. doi: 10.1006/geno.1994.1282. Genomics. 1994. PMID: 8088834

7

Linkage mapping of the spinal muscular atrophy gene.

Burghes AH, Ingraham SE, Kóte-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, Carpten J, Hurko O, Florence J, et al. Burghes AH, et al. Among authors: didonato cj. Hum Genet. 1994 Mar;93(3):305-12. doi: 10.1007/BF00212028. Hum Genet. 1994. PMID: 8125483

8

Animal models of spinal muscular atrophy.

Schmid A, DiDonato CJ. Schmid A, et al. Among authors: didonato cj. J Child Neurol. 2007 Aug;22(8):1004-12. doi: 10.1177/0883073807305667. J Child Neurol. 2007. PMID: 17761656 Review.

9

SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?

Heier CR, Gogliotti RG, DiDonato CJ. Heier CR, et al. Among authors: didonato cj. J Child Neurol. 2007 Aug;22(8):1013-8. doi: 10.1177/0883073807305669. J Child Neurol. 2007. PMID: 17761657

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: didonato cj. 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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