Schiffmann R - Search Results

1

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Sun M, et al. Among authors: schiffmann r. Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471. Hum Mol Genet. 2000. PMID: 11030752

2

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Goldin E, Stahl S, Cooney AM, Kaneski CR, Gupta S, Brady RO, Ellis JR, Schiffmann R. Goldin E, et al. Among authors: schiffmann r. Hum Mutat. 2004 Dec;24(6):460-5. doi: 10.1002/humu.20094. Hum Mutat. 2004. PMID: 15523648

3

Mucolipidosis IV consists of one complementation group.

Goldin E, Cooney A, Kaneski CR, Brady RO, Schiffmann R. Goldin E, et al. Among authors: schiffmann r. Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8562-6. doi: 10.1073/pnas.96.15.8562. Proc Natl Acad Sci U S A. 1999. PMID: 10411915 Free PMC article.

4

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Slaugenhaupt SA, et al. Among authors: schiffmann r. Am J Hum Genet. 1999 Sep;65(3):773-8. doi: 10.1086/302549. Am J Hum Genet. 1999. PMID: 10441585 Free PMC article.

5

The neurogenetics of mucolipidosis type IV.

Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. Altarescu G, et al. Among authors: schiffmann r. Neurology. 2002 Aug 13;59(3):306-13. doi: 10.1212/wnl.59.3.306. Neurology. 2002. PMID: 12182165

6

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.

Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R. Goldin E, et al. Among authors: schiffmann r. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3134-42. doi: 10.1167/iovs.07-1649. Epub 2008 Mar 7. Invest Ophthalmol Vis Sci. 2008. PMID: 18326692 Free PMC article.

7

Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

Smith JA, Chan CC, Goldin E, Schiffmann R. Smith JA, et al. Among authors: schiffmann r. Ophthalmology. 2002 Mar;109(3):588-94. doi: 10.1016/s0161-6420(01)00968-x. Ophthalmology. 2002. PMID: 11874766

8

Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia.

Lubensky IA, Schiffmann R, Goldin E, Tsokos M. Lubensky IA, et al. Among authors: schiffmann r. Am J Surg Pathol. 1999 Dec;23(12):1527-31. doi: 10.1097/00000478-199912000-00010. Am J Surg Pathol. 1999. PMID: 10584706

9

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. Acierno JS Jr, et al. Among authors: schiffmann r. Genomics. 2001 Apr 15;73(2):203-10. doi: 10.1006/geno.2001.6526. Genomics. 2001. PMID: 11318610

10

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, Nagle JW, Schiffmann R. Altarescu GM, et al. Among authors: schiffmann r. Clin Genet. 2001 Jul;60(1):46-51. doi: 10.1034/j.1399-0004.2001.600107.x. Clin Genet. 2001. PMID: 11531969

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