Desnick RJ - Search Results

1

Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.

Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G. Takahashi T, et al. Among authors: desnick rj. Tohoku J Exp Med. 1995 Oct;177(2):117-23. doi: 10.1620/tjem.177.117. Tohoku J Exp Med. 1995. PMID: 8693491 Free article.

2

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH. Takahashi T, et al. Among authors: desnick rj. J Biol Chem. 1992 Jun 25;267(18):12552-8. J Biol Chem. 1992. PMID: 1618760 Free article.

3

Ocular manifestations of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. McGovern MM, et al. Among authors: desnick rj. Ophthalmology. 2004 Jul;111(7):1424-7. doi: 10.1016/j.ophtha.2003.10.034. Ophthalmology. 2004. PMID: 15234149

4

Morbidity and mortality in type B Niemann-Pick disease.

McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. McGovern MM, et al. Among authors: desnick rj. Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4. Epub 2013 Feb 14. Genet Med. 2013. PMID: 23412609 Free article.

5

Types A and B Niemann-Pick disease.

Schuchman EH, Desnick RJ. Schuchman EH, et al. Among authors: desnick rj. Mol Genet Metab. 2017 Jan-Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16. Mol Genet Metab. 2017. PMID: 28164782 Free PMC article. Review.

6

Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction.

Yeyati PL, Agmon V, Fillat C, Dinur T, Dagan A, Desnick RJ, Gatt S, Schuchman EH. Yeyati PL, et al. Among authors: desnick rj. Hum Gene Ther. 1995 Aug;6(8):975-83. doi: 10.1089/hum.1995.6.8-975. Hum Gene Ther. 1995. PMID: 7578419

7

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Horinouchi K, et al. Among authors: desnick rj. Nat Genet. 1995 Jul;10(3):288-93. doi: 10.1038/ng0795-288. Nat Genet. 1995. PMID: 7670466

8

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: desnick rj. Hum Mutat. 1993;2(4):317-9. doi: 10.1002/humu.1380020414. Hum Mutat. 1993. PMID: 8401540 No abstract available.

9

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: desnick rj. Hum Mol Genet. 1993 Feb;2(2):205-6. doi: 10.1093/hmg/2.2.205. Hum Mol Genet. 1993. PMID: 8499909 No abstract available.

10

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology.

Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH. Miranda SR, et al. Among authors: desnick rj. FASEB J. 2000 Oct;14(13):1988-95. doi: 10.1096/fj.00-0014com. FASEB J. 2000. PMID: 11023983

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