| 1 | GBA, GBA1, GBA2, GBA3, PARK24
|
| Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
|
| Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.
|
| Brain 138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.
2015
|
| 2 | MPS1, IDUA, GBA1
|
| Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).
|
| Pastores GM, Meere PA.
|
| Curr Opin Rheumatol 17(1):70-8. Review. 2005
|
| 3 | GBA, GBA1
|
| Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
|
| Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E.
|
| Am J Hum Genet 72(3):519-34. 2003
|
| 4 | GBA, MTX1, GBA1, GBA2, GBA3
|
| Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.
|
| Diaz-Font A, Cormand B, Blanco M, Chamoles N, Chabas A, Grinberg D, Vilageliu L.
|
| Hum Genet 112(4):426-9. Epub 2003 Feb 14. 2003
|
| 5 | GBA, LAMP1, GBA1, GBA2, GBA3
|
| Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity.
|
| Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ.
|
| Mol Genet Metab 75(1):46-55. 2002
|
| 6 | GBA, GBA1, GBA2, GBA3
|
| Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
|
| Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.
|
| Am J Med 113(2):112-9. 2002
|
| 7 | GBA, GBA1
|
| Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
|
| Amaral O, Marcao A, Sa Miranda M, Desnick RJ, Grace ME.
|
| Eur J Hum Genet 8(2):95-102. 2000
|
| 8 | GBA, GBA1, GBA2, GBA3
|
| Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
|
| Colombo R.
|
| Am J Hum Genet 66(2):692-7. 2000
|
| 9 | GBA, GBA1, GBA3
|
| Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease.
|
| Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.
|
| Am J Hum Genet 66(6):1777-1786. 2000
|
| 10 | GBA, GBA1, GBA2
|
| Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
|
| Grace ME, et al.
|
| J Clin Invest 103(6):817-23. 1999
|
| 11 | GBA, GBA1, GBA2, GBA3
|
| Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.
|
| Ida H, et al.
|
| Hum Genet 105(1-2):120-6. 1999
|
| 12 | GBA, GBA1, GBA2, GBA3
|
| Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers : mutation profile and genotype/phenotype correlations in Gaucher disease.
|
| Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L.
|
| Am J Hum Genet 63 : 415-427. 1998
|
| 13 | GBA, PSAP, GBA1, GBA2, GBA3
|
| Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
|
| Cormand B, Montfort M, Chabas A, Vilageliu L, Grinberg D.
|
| Hum Genet 100(1):75-9. 1997
|
| 14 | GBA, GBA1, GBA2, GBA3
|
| Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
|
| Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A.
|
| Am J Med Genet 70(4):437-43. 1997
|
| 15 | GBA, GBA1
|
| Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
|
| Rockah R, Narinsky R, Hatskelzon L, Frisch A.
|
| Am J Med Genet 72(1):77-8. 1997
|
| 16 | CLK2, ENTREP3, GBA, GBA1, GBA2, GBA3, GBAP, MTX1, SCAMP3
|
| Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
|
| Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E.
|
| Genome Res 7(10):1020-6. 1997
|
| 17 | CLK2, ENTREP3, GBA, GBA1, GBA2, GBA3, GBAP, SCAMP3
|
| Gaucher disease phenotypes outflanked?
|
| Beutler E.
|
| Genome Res 7(10):950-1. 1997
|
| 18 | GBA, GBA1, GBA2, GBA3
|
| Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
|
| Cormand B, et al.
|
| Hum Mutat 7 : 272-274. 1996
|
| 19 | GBA, GBA1, GBA2, GBA3
|
| 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
|
| Tayebi N, et al.
|
| Am J Med Genet 66 : 316-319. 1996
|
| 20 | GBA, GBA1, GBA2, GBA3
|
| The glucocerebrosidase D409H mutation in Gaucher disease.
|
| Pasmanik-Chor M, et al.
|
| Biochem Mol Med 59 : 125-133. 1996
|
| 21 | GBA, GBA1, GBA2, GBA3
|
| A rare G6490 -> a substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
|
| Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R.
|
| Clin Genet 48 : 123-127. 1995
|
| 22 | GBA, GBA1, GBA2, GBA3
|
| Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations.
|
| Ida H, et al.
|
| Hum Genet 95 : 717-720. 1995
|
| 23 | PSGD, GBA, GBA1
|
| Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
|
| Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A.
|
| Lancet 346(8981):1000-3. 1995
|
| 24 | PSGD, GBA, GBA1
|
| Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
|
| Chabas A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzalez-Duarte R, Vilageliu L.
|
| J Med Genet 32(9):740-2. 1995
|
| 25 | GBA, GBA1, GBA2, GBA3
|
| Mutations causing Gaucher disease.
|
| Horowitz M, et al.
|
| Hum Mutat 3 : 1-11. 1994
|
| 26 | GBA, GBA1
|
| Molecular characterisation of type 1 Gaucher disease families and patients : intrafamilial heterogeneity at the clinical level.
|
| Amaral O, et al.
|
| J Med Genet 31 : 401-404. 1994
|
| 27 | GBA, GBA1, GBA2, GBA3
|
| Gaucher disease : N370S glucocerebrosidase gene frequency in the Portuguese population.
|
| Lacerda L, et al.
|
| Clin Genet 45 : 298-300. 1994
|
| 28 | GBA, GBA1, GBA2, GBA3
|
| Y418C : a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
|
| Tuteja R, et al.
|
| Hum Genet 94 : 314-315. 1994
|
| 29 | GBA, GBA1, GBA2, GBA3
|
| The glucocerebrosidase locus in Gaucher's disease : molecular analysis of a lysosomal enzyme.
|
| Mistry PK, et al.
|
| J Med Genet 30 : 889-894. 1993
|
| 30 | GBA, GBA1
|
| Phenotype/genotype correlations in Gaucher disease type 1 : clinical and therapeutic implications.
|
| Sibille A, et al.
|
| Am J Hum Genet 52 : 1094-1101. 1993
|
| 31 | GBA, GBA1, GBA2, GBA3
|
| A novel splicing abnormality in a Japanese patient with Gaucher's disease.
|
| Ohshima T, et al.
|
| Hum Mol Genet 2 : 1497-1498. 1993
|
| 32 | GBA, GBA1, GBA2, GBA3
|
| Identification of six new Gaucher disease mutations.
|
| Beutler E, et al.
|
| Genomics 15 : 203-205. 1993
|