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Items: 1 to 20 of 293

1.

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.

Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL.

Am J Med Genet A. 2004 Jun 1;127A(2):158-66.

PMID:
15108204
2.

A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.

Fernandes MJ, Hechtman P, Boulay B, Kaplan F.

Eur J Hum Genet. 1997 May-Jun;5(3):129-36.

PMID:
9272736
3.

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Cao Z, Natowicz MR, Kaback MM, Lim-Steele JS, Prence EM, Brown D, Chabot T, Triggs-Raine BL.

Am J Hum Genet. 1993 Dec;53(6):1198-205.

4.
5.

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L.

J Biol Chem. 1990 May 5;265(13):7324-30.

6.
7.

Novel Tay-Sachs disease mutations from China.

Akalin N, Shi HP, Vavougios G, Hechtman P, Lo W, Scriver CR, Mahuran D, Kaplan F.

Hum Mutat. 1992;1(1):40-6.

PMID:
1301190
8.

Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.

Navon R, Khosravi R, Melki J, Drucker L, Fontaine B, Turpin JC, N'Guyen B, Fardeau M, Rondot P, Baumann N.

Ann Neurol. 1997 May;41(5):631-8.

PMID:
9153525
9.

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.

Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al.

Neurology. 1995 Mar;45(3 Pt 1):539-43.

PMID:
7898712
10.

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

Drucker L, Hemli JA, Navon R.

Hum Mutat. 1997;10(6):451-7.

PMID:
9401008
11.

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

Banerjee P, Siciliano L, Oliveri D, McCabe NR, Boyers MJ, Horwitz AL, Li SC, Dawson G.

Biochem Biophys Res Commun. 1991 Nov 27;181(1):108-15.

PMID:
1720305
13.
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15.

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G.

Hum Genet. 1998 Oct;103(4):462-9.

PMID:
9856491
16.
17.

Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF.

J Biol Chem. 1990 Jun 5;265(16):9452-7.

18.

Mutation in GM2-gangliosidosis B1 variant.

Ohno K, Suzuki K.

J Neurochem. 1988 Jan;50(1):316-8.

PMID:
2961848
19.

[Studies on the molecular mechanism of GM(2) gangliosidosis].

Hou L, Kousaku O.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):103-6. Chinese.

PMID:
12673576
20.

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