Strasberg PM - Search Results

1

Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.

Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF. Rosebush PI, et al. Among authors: strasberg pm. J Clin Psychiatry. 1995 Aug;56(8):347-53. J Clin Psychiatry. 1995. PMID: 7635850 Review.

2

Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.

Strasberg PM, Clarke JT. Strasberg PM, et al. Clin Chem. 1992 Nov;38(11):2249-55. Clin Chem. 1992. PMID: 1424119

3

Genotype-phenotype pitfalls in Gaucher disease.

Strasberg PM, Triggs-Raine BL, Warren IB, Skomorowski MA, McInnes B, Becker LE, Callahan JW, Clarke JT. Strasberg PM, et al. J Clin Lab Anal. 1994;8(4):228-36. doi: 10.1002/jcla.1860080409. J Clin Lab Anal. 1994. PMID: 7931818 Review.

4

Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?

Strasberg PM, Skomorowski MA, Warren IB, Hilson WL, Callahan JW, Clarke JT. Strasberg PM, et al. Biochem Med Metab Biol. 1994 Oct;53(1):16-21. doi: 10.1006/bmmb.1994.1052. Biochem Med Metab Biol. 1994. PMID: 7857677

5

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Clarke JT, Greer WL, Strasberg PM, Pearce RD, Skomorowski MA, Ray PN. Clarke JT, et al. Among authors: strasberg pm. Am J Hum Genet. 1991 Aug;49(2):289-97. Am J Hum Genet. 1991. PMID: 1678247 Free PMC article.

6

Lysosphingolipids and mitochondrial function. II. Deleterious effects of sphingosylphosphorylcholine.

Strasberg PM, Callahan JW. Strasberg PM, et al. Biochem Cell Biol. 1988 Dec;66(12):1322-32. doi: 10.1139/o88-153. Biochem Cell Biol. 1988. PMID: 2977568

7

Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.

Strasberg P, Warren I, Skomorowski MA, Feigenbaum A. Strasberg P, et al. Hum Mutat. 1997;10(1):82-3. doi: 10.1002/(SICI)1098-1004(1997)10:1<82::AID-HUMU13>3.0.CO;2-W. Hum Mutat. 1997. PMID: 9222766 No abstract available.

8

Evaluation of the biotinylated (Blugene) vs 32P-labeled cDNA probes of beta-glucocerebrosidase: relative sensitivities in genomic and other systems.

Strasberg P. Strasberg P. Clin Chem. 1989 Jul;35(7):1512-6. Clin Chem. 1989. PMID: 2758598

9

Decreased incorporation of D-glucosamine into glycosphingolipids of intact Familial Dysautonomia lymphoblasts.

Strasberg PM, Novak A, Warren IB. Strasberg PM, et al. J Mol Neurosci. 1995;6(2):121-30. doi: 10.1007/BF02736771. J Mol Neurosci. 1995. PMID: 8746450

10

A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.

Strasberg P, Liede HA, Stein T, Warren I, Sutherland J, Ray PN. Strasberg P, et al. Hum Mol Genet. 1995 Nov;4(11):2179-80. doi: 10.1093/hmg/4.11.2179. Hum Mol Genet. 1995. PMID: 8589700 No abstract available.

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