178 related articles for article (PubMed ID: 2953177)
1. GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Federico A
Adv Exp Med Biol; 1987; 209():19-23. PubMed ID: 2953177
[No Abstract] [Full Text] [Related]
2. [Recent advances in molecular genetics of GM2 gangliosidosis].
Wakamatsu N
Nihon Rinsho; 1995 Dec; 53(12):2988-93. PubMed ID: 8577047
[TBL] [Abstract][Full Text] [Related]
3. The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
Mahuran DJ
Biochim Biophys Acta; 1991 Feb; 1096(2):87-94. PubMed ID: 1825792
[No Abstract] [Full Text] [Related]
4. [Genetic deficiencies of beta-N-acetylhexosaminidase A and B: Tay-Sachs and Sandhoff diseases (GM2-gangliosidosis)].
Suzuki K
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):721-7. PubMed ID: 2978703
[No Abstract] [Full Text] [Related]
5. GM2-gangliosidosis. Clinical and biochemical aspects of four cases.
Praamstra P; Wevers RA; Gabreëls FJ; Rotteveel JJ; Renier WO; Sengers RC; Lamers KJ
Clin Neurol Neurosurg; 1990; 92(2):143-8. PubMed ID: 2163796
[TBL] [Abstract][Full Text] [Related]
6. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
Sango K; Yamanaka S; Hoffmann A; Okuda Y; Grinberg A; Westphal H; McDonald MP; Crawley JN; Sandhoff K; Suzuki K; Proia RL
Nat Genet; 1995 Oct; 11(2):170-6. PubMed ID: 7550345
[TBL] [Abstract][Full Text] [Related]
7. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Huang JQ; Trasler JM; Igdoura S; Michaud J; Hanal N; Gravel RA
Hum Mol Genet; 1997 Oct; 6(11):1879-85. PubMed ID: 9302266
[TBL] [Abstract][Full Text] [Related]
8. [Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
Zwierz K; Juszkiewicz J; Arciuch L; Gindzieński A
Postepy Biochem; 1992; 38(3):127-32. PubMed ID: 1461844
[No Abstract] [Full Text] [Related]
9. Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
Nardocci N; Bertagnolio B; Rumi V; Angelini L
Mov Disord; 1992; 7(1):64-7. PubMed ID: 1532632
[TBL] [Abstract][Full Text] [Related]
10. Plasma G
Blondel A; Kraoua I; Marcelino C; Khrouf W; Schlemmer D; Ganne B; Caillaud C; Fernández-Eulate G; Turki IBY; Dauriat B; Bonnefont-Rousselot D; Nadjar Y; Lamari F
Mol Genet Metab; 2023 Feb; 138(2):106983. PubMed ID: 36709536
[TBL] [Abstract][Full Text] [Related]
11. Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
Neufeld EF
J Biol Chem; 1989 Jul; 264(19):10927-30. PubMed ID: 2525553
[No Abstract] [Full Text] [Related]
12. Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochim Biophys Acta; 1999 Oct; 1455(2-3):105-38. PubMed ID: 10571007
[TBL] [Abstract][Full Text] [Related]
13. Naturally occurring mutations in GM2 gangliosidosis: a compendium.
Triggs-Raine B; Mahuran DJ; Gravel RA
Adv Genet; 2001; 44():199-224. PubMed ID: 11596984
[No Abstract] [Full Text] [Related]
14. Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
Der Kaloustian VM; Khoury MJ; Hallal R; Idriss ZH; Deeb ME; Wakid NW; Haddad FS
Am J Hum Genet; 1981 Jan; 33(1):85-9. PubMed ID: 7468596
[TBL] [Abstract][Full Text] [Related]
15. Dystonia in GM2 gangliosidosis.
Hardie RJ; Morgan-Hughes JA
Mov Disord; 1992 Oct; 7(4):390-1. PubMed ID: 1484544
[No Abstract] [Full Text] [Related]
16. The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.
Cordeiro P; Hechtman P; Kaplan F
Genet Med; 2000; 2(6):319-27. PubMed ID: 11339652
[TBL] [Abstract][Full Text] [Related]
17. GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Christopher R; Rangaswamy GR; Shetty KT
Indian J Pediatr; 1995; 62(4):479-83. PubMed ID: 10829909
[TBL] [Abstract][Full Text] [Related]
18. Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Adams C; Green S
Dev Med Child Neurol; 1986 Apr; 28(2):236-43. PubMed ID: 2940136
[TBL] [Abstract][Full Text] [Related]
19. [Hexosaminidase deficiency as differential spinocerebellar diseases].
Förster A; Heuss D; Claus D
Nervenarzt; 1999 Feb; 70(2):162-6. PubMed ID: 10098152
[TBL] [Abstract][Full Text] [Related]
20. Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Kaur M; Verma IC
Indian J Pediatr; 1995; 62(4):485-9. PubMed ID: 10829910
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]