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Items: 14

1.
Prion-like α-synuclein pathology in the brain of infants with Krabbe disease
Christopher Hatton, Simona S. Ghanem, David J. Koss, Ilham Y. Abdi, Elizabeth Gibbons, Rita Guerreiro, Jose Bras, International DLB Genetics Consortium , Lauren Walker, Ellen Gelpi, Wendy Heywood, Tiago F. Outeiro, Johannes Attems, Robert McFarland, Rob Forsyth, Omar M. El-Agnaf, Daniel Erskine
Brain. 2022 Apr; 145(4): 1257–1263. Published online 2022 Jan 6. doi: 10.1093/brain/awac002
PMCID:
PMC9128812
AbstractArticlePDF–581K
2.
Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N Cooper, Mirella Filocamo
Hum Mutat. 2010 Dec; 31(12): E1894–E1915. doi: 10.1002/humu.21367
PMCID:
PMC3052420
AbstractArticlePDF–797K
3.
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
R. De Gasperi, M. A. Gama Sosa, E. L. Sartorato, S. Battistini, H. MacFarlane, J. F. Gusella, W. Krivit, E. H. Kolodny
Am J Hum Genet. 1996 Dec; 59(6): 1233–1242.
Correction in:
Am J Hum Genet. 1997 May; 60(5): 1264.
PMCID:
PMC1914878
SummaryPage BrowsePDF–1.9M
4.
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
D F Farrell, A K Percy, M M Kaback, G M McKhann
Am J Hum Genet. 1973 Nov; 25(6): 604–609.
PMCID:
PMC1762568
SummaryPage BrowsePDF–694K
5.
Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblasts is associated with human chromosome 17.
T A Lyerla, J T Konola, M C Skiba, S Raghavan
Am J Hum Genet. 1989 Feb; 44(2): 198–207.
PMCID:
PMC1715402
SummaryPage BrowsePDF–2.1M
6.
Krabbe disease locus mapped to chromosome 14 by genetic linkage.
J Zlotogora, S Chakraborty, R G Knowlton, D A Wenger
Am J Hum Genet. 1990 Jul; 47(1): 37–44.
PMCID:
PMC1683747
SummaryPage BrowsePDF–1.1M
7.
Galactocerebrosidase Deficiency in Globoid Cell Leucodystrophy of Late Onset
Elisabeth Young, J. Wilson, A. D. Patrick, L. Crome
Arch Dis Child. 1972 Jun; 47(253): 449–450. doi: 10.1136/adc.47.253.449
PMCID:
PMC1648137
SummaryPage BrowsePDF–273K
8.
A cerebroside sulphotransferase deficiency in a human disorder of myelin.
B K Bachhawat, J Austin, D Armstrong
Biochem J. 1967 Aug; 104(2): 15contd–15co17c. doi: 10.1042/bj1040015c
PMCID:
PMC1270641
SummaryPage BrowsePDF–484K
9.
HISTOLOGICAL AND CHEMICAL FINDINGS IN KRABBE'S LEUCODYSTROPHY
R. M. Norman, D. R. Oppenheimer, A. H. Tingey
J Neurol Neurosurg Psychiatry. 1961 Aug; 24(3): 223–232. doi: 10.1136/jnnp.24.3.223
PMCID:
PMC496698
SummaryPage BrowsePDF–3.2M
10.
Late onset Krabbe's leukodystrophy: a report of four cases.
M Phelps, J Aicardi, M T Vanier
J Neurol Neurosurg Psychiatry. 1991 Apr; 54(4): 293–296. doi: 10.1136/jnnp.54.4.293
PMCID:
PMC488481
SummaryPage BrowsePDF–906K
11.
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.
P M Hoogerbrugge, B J Poorthuis, A E Romme, J J van de Kamp, G Wagemaker, D W van Bekkum
J Clin Invest. 1988 Jun; 81(6): 1790–1794. doi: 10.1172/JCI113521
PMCID:
PMC442626
SummaryPage BrowsePDF–1.0M
12.
Globoid Cell Leukodystrophy: Deficiency of Lactosyl Ceramide Beta-Galactosidase
David A. Wenger, Martha Sattler, William Hiatt
Proc Natl Acad Sci U S A. 1974 Mar; 71(3): 854–857. doi: 10.1073/pnas.71.3.854
PMCID:
PMC388113
SummaryPage BrowsePDF–772K
13.
Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides.
T Ichioka, Y Kishimoto, S Brennan, G W Santos, A M Yeager
Proc Natl Acad Sci U S A. 1987 Jun; 84(12): 4259–4263. doi: 10.1073/pnas.84.12.4259
PMCID:
PMC305064
SummaryPage BrowsePDF–1.0M
14.
Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β-Galactosidase
Kunihiko Suzuki, Yoshiyuki Suzuki
Proc Natl Acad Sci U S A. 1970 Jun; 66(2): 302–309. doi: 10.1073/pnas.66.2.302
PMCID:
PMC283044
SummaryPage BrowsePDF–1.0M

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