| 1 | Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. (20920281) | Yang C.F.... Tsai F.J. | 2010 | GLB1 |
| 2 | Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. (18772556) | Yamato O.... Arai T. | 2008 | HEXB |
| 3 | Neuropathology of chronic GM2 gangliosidosis due to h exosaminidase A deficiency. (18808061) | Kornfeld M. | 2008 | HEXA |
| 4 | Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis. (18088383) | Kreutzer R.... Baumgartner W. | 2008 | GLB1, CTSA |
| 5 | Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA. (18392450) | Balestrin R.C.... Matte U. | 2008 | GLB1 |
| 6 | GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. (18524657) | Brunetti-Pierri N.... Scaglia F. | 2008 | GLB1 |
| 7 | Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis. (17712606) | Brunetti-Pierri N.... Graham B.H. | 2007 | GLB1 |
| 8 | Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. (17664528) | Santamaria R.... Vilageliu L. | 2007 | GLB1, CTSA |
| 9 | Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. (17309651) | Santamaria R.... Vilageliu L. | 2007 | GLB1 |
| 10 | A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties (17491335) | Takado Y.... Ishiguro H. | 2007 | HEXB, HEXA |
| 11 | Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications. (16511797) | Yamato O.... Maede Y. | 2006 | GLB1 |
| 12 | Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis. (15791924) | Gururaj A.... D'Azzo A. | 2005 | GLB1 |
| 13 | Dystonia and parkinsonism in GM1 type 3 gangliosidosis. (15986423) | Roze E.... Roubergue A. | 2005 | GLB1 |
| 14 | The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. (15943552) | Georgiou T.... Drousiotou A. | 2005 | GLB1 |
| 15 | Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. (16314480) | Caciotti A.... Morrone A. | 2005 | GLB1 |
| 16 | Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. (15108204) | Wicklow B.A.... Triggs-Raine B.L. | 2004 | HEXA |
| 17 | Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (12644936) | Caciotti A.... Morrone A. | 2003 | GLB1 |
| 18 | Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. (14566483) | Tanaka A.... Yamano T. | 2003 | HEXA |
| 19 | Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. (10737981) | Morrone A.... Zammarchi E. | 2000 | GLB1 |
| 20 | Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. (10839995) | Zhang S.... Callahan J.W. | 2000 | GLB1 |
| 21 | Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. (10841810) | Hinek A.... Callahan J.W. | 2000 | GLB1 |
| 22 | Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. (10571006) | Callahan J.W. | 1999 | GLB1, CTSA, NEU1 |
| 23 | Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. (10338095) | Silva C.M.D.... Giugliani R. | 1999 | GLB1 |
| 24 | Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis. (9203065) | Kaye E.M.... Breakefield X.O. | 1997 | GLB1 |
| 25 | A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. (9272736) | Fernandes M.J.... Kaplan F. | 1997 | HEXA |
| 26 | GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (8581357) | Peleg L.... Goldman B. | 1995 | HEXA |
| 27 | Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). (8178934) | Muldoon L.L.... Weiss D.L. | 1994 | HEXB |
| 28 | Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. (8244332) | Schroder M.... Sandhoff K. | 1993 | GM2A |
| 29 | Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin: a possible B1 variant. (8244659) | Shukry A.... Peleg L. | 1993 | HEXA |
| 30 | GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. (8403628) | Benninger C.... Schmitt H.P. | 1993 | HEXA |
| 31 | A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1- gangliosidosis patient. (1487238) | Mosna G.... Piantanida M. | 1992 | GLB1 |
| 32 | GM1 gangliosidosis type 2 in two siblings. (1588015) | Gascon G.G.... Erwin R.E. | 1992 | NEU1 |
| 33 | GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. (1353343) | Yoshida K.... Kondo K. | 1992 | GLB1 |
| 34 | A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis. (1570834) | Xie B.... Mahuran D.J. | 1992 | HEXA |
| 35 | Type 3 GM1 gangliosidosis: characteristic MRI finding s correlated with dystonia. (1336295) | Uyama E.... Ando M. | 1992 | GLB1 |
| 36 | GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient. (1606711) | Oshima A.... Suzuki Y. | 1992 | GLB1 |
| 37 | A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. (1915858) | Schroeder M.... Sandhoff K. | 1991 | GM2A |
| 38 | GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. (1909089) | Nishimoto J.... Suzuki K. | 1991 | GLB1 |
| 39 | The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. (1825792) | Mahuran D.J. | 1991 | HEXB, HEXA |
| 40 | A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. (1827945) | Mules E.H.... Thomas G.H. | 1991 | HEXA |
| 41 | Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. (2140574) | Paw B.H.... Neufeld E.F. | 1990 | HEXA |
| 42 | Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease). (2174089) | Toma L.... Nader H.B. | 1990 | HEXA |
| 43 | GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. (2137287) | Tanaka A.... Suzuki K. | 1990 | HEXA |
| 44 | Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect. (2278539) | Navon R.... Proia R.L. | 1990 | HEXA |
| 45 | GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient. (2973311) | Tanaka A.... Suzuki K. | 1988 | HEXA |
| 46 | A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant. (2970528) | Nakano T.... Suzuki K. | 1988 | HEXA |
| 47 | GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor. (3084469) | Hoogeveen A.T.... Galjaard H. | 1986 | GLB1 |
| 48 | Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein. Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization. (6724528) | Banerjee A.... Sandhoff K. | 1984 | GM2A |
| 49 | A case of type 2 Gm1-gangliosidosis with long survival. (6807121) | Kikuchi K.... Tsugawa S. | 1982 | GLB1 |
| 50 | Hexosaminidase isozyme in type O Gm2 gangliosidosis ( Sandhoff-Jatzkewitz disease). (808963) | Beutler E.... Comings D. | 1975 | HEXA |
