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Results: 1 to 20 of 273

Similar articles for PubMed (Select 10751093)

1.

Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.

Hermann S, Schestag F, Polten A, Kafert S, Penzien J, Zlotogora J, Baumann N, Gieselmann V.

Am J Med Genet. 2000 Mar 6;91(1):68-73.

PMID:
10751093
2.

Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

Kappler J, Sommerlade HJ, von Figura K, Gieselmann V.

Hum Mutat. 1994;4(2):119-27.

PMID:
7981715
3.

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.

Hess B, Kafert S, Heinisch U, Wenger DA, Zlotogora J, Gieselmann V.

Hum Mutat. 1996;7(4):311-7.

PMID:
8723680
4.

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP.

Hum Mutat. 1994;4(4):233-42. Review.

PMID:
7866401
5.

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.

Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M.

Hum Genet. 2002 Apr;110(4):351-5. Epub 2002 Mar 8.

PMID:
11941485
6.

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K.

Am J Hum Genet. 1991 Aug;49(2):407-13.

7.

Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.

Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V.

FEBS J. 2005 Mar;272(5):1179-88.

9.

Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.

Yaghootfam A, Baumann N, Schwarz A, Gieselmann V.

Neurochem Res. 2004 May;29(5):933-42.

PMID:
15139291
10.
11.
12.

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.

Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S.

Mol Genet Metab. 2003 Nov;80(3):360-3.

PMID:
14680985
13.

An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.

Honke K, Kobayashi T, Fujii T, Gasa S, Xu M, Takamaru Y, Kondo R, Tsuji S, Makita A.

Hum Genet. 1993 Nov;92(5):451-6.

PMID:
7902317
15.

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.

Luzi P, Rafi MA, Rao HZ, Wenger DA.

Gene. 2013 Nov 10;530(2):323-8. doi: 10.1016/j.gene.2013.08.065. Epub 2013 Aug 31.

PMID:
24001781
16.

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.

Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M.

J Clin Neurosci. 2006 May;13(4):443-8.

PMID:
16678723
17.

The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.

Schestag F, Yaghootfam A, Habetha M, Poeppel P, Dietz F, Klein RA, Zlotogora J, Gieselmann V.

Biochem J. 2002 Oct 15;367(Pt 2):499-504.

18.

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

Harvey JS, Nelson PV, Carey WF, Robertson EF, Morris CP.

Hum Mutat. 1993;2(4):261-7.

PMID:
8104633
19.

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).

Dorboz I, Eymard-Pierre E, Kefi R, Abdelhak S, Miladi N, Boespflug-Tanguy O; Tunisian Leukodystrophy Study Group.

J Neurol Sci. 2009 Dec 15;287(1-2):278-80. doi: 10.1016/j.jns.2009.07.023. Epub 2009 Aug 21.

PMID:
19699491
20.

Molecular basis of different forms of metachromatic leukodystrophy.

Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V.

N Engl J Med. 1991 Jan 3;324(1):18-22.

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