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Results: 1 to 20 of 217

Similar articles for PubMed (Select 2023926)

1.
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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.

Tohoku J Exp Med. 1995 Oct;177(2):117-23.

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The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH.

Am J Hum Genet. 2002 Dec;71(6):1413-9. Epub 2002 Oct 4.

9.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

J Inherit Metab Dis. 2007 Oct;30(5):654-63. Epub 2007 Jul 12. Review.

PMID:
17632693
10.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S48-57. Review.

PMID:
20040312
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12.

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K, Suzuki K.

Hum Genet. 1993 Oct;92(4):325-30.

PMID:
8225311
13.

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH.

Mol Med. 2010 Jul-Aug;16(7-8):316-21. doi: 10.2119/molmed.2010.00017. Epub 2010 Apr 6.

14.

Signaling pathway for radiation-induced apoptosis in the lymphoblasts from neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease.

Mikami T, Takahashi T, Ishida A, Minamiya Y, Ida H, Takada G.

J Neurol Sci. 2002 Jul 15;199(1-2):39-43.

PMID:
12084440
15.

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.

Nat Genet. 1995 Jul;10(3):288-93.

PMID:
7670466
16.

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.

Hum Mutat. 1993;2(4):317-9. No abstract available.

PMID:
8401540
17.

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.

Suchi M, Dinur T, Desnick RJ, Gatt S, Pereira L, Gilboa E, Schuchman EH.

Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3227-31.

18.

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH.

Am J Hum Genet. 2006 May;78(5):865-70. Epub 2006 Mar 14.

19.

Preimplantation genetic diagnosis for Niemann-Pick disease type B.

Hellani A, Schuchman EH, Al-Odaib A, Al Aqueel A, Jaroudi K, Ozand P, Coskun S.

Prenat Diagn. 2004 Dec 15;24(12):943-8.

PMID:
15612058
20.

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B.

Hum Mutat. 2004 Aug;24(2):186-7.

PMID:
15241805
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