-
1
-
-
77949261494
-
Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB.
-
Canal, M.M., Wilkinson, F.L., Cooper, J.D., Wraith, J.E., Wynn, R. & Bigger, B.W.
-
Canal, M.M., Wilkinson, F.L., Cooper, J.D., Wraith, J.E., Wynn, R. & Bigger, B.W. (2010) Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB. Behav Brain Res 209, 212-220.
-
(2010)
Behav Brain Res
, vol.209
, pp. 212-220
-
-
-
2
-
-
0027487001
-
Management of mucopolysaccharidosis type III.
-
Cleary, M.A. & Wraith, J.E. (1993) Management of mucopolysaccharidosis type III. Arch Dis Child 69, 403-406.
-
(1993)
Arch Dis Child
, vol.69
, pp. 403-406
-
-
Cleary, M.A.1
Wraith, J.E.2
-
3
-
-
0018186803
-
Neurochemistry of the mucopolysaccharidoses: brain glycosaminoglycans, lipids and lysosomal enzymes in mucopolysaccharidosis type III B (alpha-N-acetylglucosaminidase deficiency).
-
Constantopoulos, G., Eiben, R.M. & Schafer, I.A. (1978) Neurochemistry of the mucopolysaccharidoses: brain glycosaminoglycans, lipids and lysosomal enzymes in mucopolysaccharidosis type III B (alpha-N-acetylglucosaminidase deficiency). J Neurochem 31, 1215-1222.
-
(1978)
J Neurochem
, vol.31
, pp. 1215-1222
-
-
Constantopoulos, G.1
Eiben, R.M.2
Schafer, I.A.3
-
5
-
-
8544258806
-
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.
-
Cressant, A., Desmaris, N., Verot, L., Brejot, T., Froissart, R., Vanier, M.T., Maire, I. & Heard, J.M. (2004) Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci 24, 10229-10239.
-
(2004)
J Neurosci
, vol.24
, pp. 10229-10239
-
-
Cressant, A.1
Desmaris, N.2
Verot, L.3
Brejot, T.4
Froissart, R.5
Vanier, M.T.6
Maire, I.7
Heard, J.M.8
-
6
-
-
0345268640
-
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.
-
Fraser, J., Wraith, J.E. & Delatycki, M.B. (2002) Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet 62, 418-421.
-
(2002)
Clin Genet
, vol.62
, pp. 418-421
-
-
Fraser, J.1
Wraith, J.E.2
Delatycki, M.B.3
-
7
-
-
28444479825
-
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study.
-
Fraser, J., Gason, A.A., Wraith, J.E. & Delatycki, M.B. (2005) Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child 90, 1239-1242.
-
(2005)
Arch Dis Child
, vol.90
, pp. 1239-1242
-
-
Fraser, J.1
Gason, A.A.2
Wraith, J.E.3
Delatycki, M.B.4
-
8
-
-
34447098114
-
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice.
-
Fu, H., Kang, L., Jennings, J.S., Moy, S.S., Perez, A., Dirosario, J., McCarty, D.M. & Muenzer, J. (2007) Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. Gene Ther 14, 1065-1077.
-
(2007)
Gene Ther
, vol.14
, pp. 1065-1077
-
-
Fu, H.1
Kang, L.2
Jennings, J.S.3
Moy, S.S.4
Perez, A.5
Dirosario, J.6
McCarty, D.M.7
Muenzer, J.8
-
9
-
-
77955634419
-
Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery.
-
Fu, H., DiRosario, J., Kang, L., Muenzer, J. & McCarty, D.M. (2010) Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery. J Gene Med 12, 624-633.
-
(2010)
J Gene Med
, vol.12
, pp. 624-633
-
-
Fu, H.1
DiRosario, J.2
Kang, L.3
Muenzer, J.4
McCarty, D.M.5
-
10
-
-
40749147092
-
Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B.
-
Heldermon, C.D., Hennig, A.K., Ohlemiller, K.K., Ogilvie, J.M., Herzog, E.D., Breidenbach, A., Vogler, C., Wozniak, D.F. & Sands, M.S. (2007) Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. PLoS One 2, e772.
-
(2007)
PLoS One
, vol.2
-
-
Heldermon, C.D.1
Hennig, A.K.2
Ohlemiller, K.K.3
Ogilvie, J.M.4
Herzog, E.D.5
Breidenbach, A.6
Vogler, C.7
Wozniak, D.F.8
Sands, M.S.9
-
11
-
-
77952010195
-
Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB.
-
Heldermon, C.D., Ohlemiller, K.K., Herzog, E.D., Vogler, C., Qin, E., Wozniak, D.F., Tan, Y., Orrock, J.L. & Sands, M.S. (2010) Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB. Mol Ther 18, 873-880.
-
(2010)
Mol Ther
, vol.18
, pp. 873-880
-
-
Heldermon, C.D.1
Ohlemiller, K.K.2
Herzog, E.D.3
Vogler, C.4
Qin, E.5
Wozniak, D.F.6
Tan, Y.7
Orrock, J.L.8
Sands, M.S.9
-
12
-
-
13444287759
-
Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA).
-
Hemsley, K.M. & Hopwood, J.J. (2005) Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). Behav Brain Res 158, 191-199.
-
(2005)
Behav Brain Res
, vol.158
, pp. 191-199
-
-
Hemsley, K.M.1
Hopwood, J.J.2
-
13
-
-
78650661227
-
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
-
Heron, B., Mikaeloff, Y., Froissart, R., Caridade, G., Maire, I., Caillaud, C., Levade, T., Chabrol, B., Feillet, F., Ogier, H., Valayannopoulos, V., Michelakakis, H., Zafeiriou, D., Lavery, L., Wraith, E., Danos, O., Heard, J.M. & Tardieu, M. (2011) Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 155A, 58-68.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 58-68
-
-
Heron, B.1
Mikaeloff, Y.2
Froissart, R.3
Caridade, G.4
Maire, I.5
Caillaud, C.6
Levade, T.7
Chabrol, B.8
Feillet, F.9
Ogier, H.10
Valayannopoulos, V.11
Michelakakis, H.12
Zafeiriou, D.13
Lavery, L.14
Wraith, E.15
Danos, O.16
Heard, J.M.17
Tardieu, M.18
-
14
-
-
76349090897
-
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice.
-
Langford-Smith, K., Arasaradnam, M., Wraith, J.E., Wynn, R. & Bigger, B.W. (2010) Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. Mol Genet Metab 99, 269-274.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 269-274
-
-
Langford-Smith, K.1
Arasaradnam, M.2
Wraith, J.E.3
Wynn, R.4
Bigger, B.W.5
-
15
-
-
79955694295
-
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases.
-
Langford-Smith, K.J., Mercer, J., Petty, J., Tylee, K., Church, H., Roberts, J., Moss, G., Jones, S., Wynn, R., Wraith, J.E. & Bigger, B.W. (2011) Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases. J Inherit Metab Dis 34, 499-508.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 499-508
-
-
Langford-Smith, K.J.1
Mercer, J.2
Petty, J.3
Tylee, K.4
Church, H.5
Roberts, J.6
Moss, G.7
Jones, S.8
Wynn, R.9
Wraith, J.E.10
Bigger, B.W.11
-
16
-
-
0013451138
-
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.
-
Li, H.H., Yu, W.H., Rozengurt, N., Zhao, H.Z., Lyons, K.M., Anagnostaras, S., Fanselow, M.S., Suzuki, K., Vanier, M.T. & Neufeld, E.F. (1999) Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A 96, 14505-14510.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 14505-14510
-
-
Li, H.H.1
Yu, W.H.2
Rozengurt, N.3
Zhao, H.Z.4
Lyons, K.M.5
Anagnostaras, S.6
Fanselow, M.S.7
Suzuki, K.8
Vanier, M.T.9
Neufeld, E.F.10
-
17
-
-
70349820325
-
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice.
-
Malinowska, M., Wilkinson, F.L., Bennett, W., Langford-Smith, K.J., O'Leary, H.A., Jakobkiewicz-Banecka, J., Wynn, R., Wraith, J.E., Wegrzyn, G. & Bigger, B.W. (2009) Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 98, 235-242.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 235-242
-
-
Malinowska, M.1
Wilkinson, F.L.2
Bennett, W.3
Langford-Smith, K.J.4
O'Leary, H.A.5
Jakobkiewicz-Banecka, J.6
Wynn, R.7
Wraith, J.E.8
Wegrzyn, G.9
Bigger, B.W.10
-
18
-
-
78649866475
-
Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease.
-
Malinowska, M., Wilkinson, F.L., Langford-Smith, K.J., Langford-Smith, A., Brown, J.R., Crawford, B.E., Vanier, M.T., Grynkiewicz, G., Wynn, R.F., Wraith, J.E., Wegrzyn, G. & Bigger, B.W. (2010) Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One 5, e14192.
-
(2010)
PLoS One
, vol.5
-
-
Malinowska, M.1
Wilkinson, F.L.2
Langford-Smith, K.J.3
Langford-Smith, A.4
Brown, J.R.5
Crawford, B.E.6
Vanier, M.T.7
Grynkiewicz, G.8
Wynn, R.F.9
Wraith, J.E.10
Wegrzyn, G.11
Bigger, B.W.12
-
19
-
-
9744229206
-
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders.
-
McGlynn, R., Dobrenis, K. & Walkley, S.U. (2004) Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 480, 415-426.
-
(2004)
J Comp Neurol
, vol.480
, pp. 415-426
-
-
McGlynn, R.1
Dobrenis, K.2
Walkley, S.U.3
-
20
-
-
36048940302
-
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
-
Meyer, A., Kossow, K., Gal, A., Muhlhausen, C., Ullrich, K., Braulke, T. & Muschol, N. (2007) Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 120, e1255-1261.
-
(2007)
Pediatrics
, vol.120
-
-
Meyer, A.1
Kossow, K.2
Gal, A.3
Muhlhausen, C.4
Ullrich, K.5
Braulke, T.6
Muschol, N.7
-
21
-
-
34548087323
-
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
-
Moog, U., van Mierlo, I., van Schrojenstein Lantman-de Valk, H.M., Spaapen, L., Maaskant, M.A. & Curfs, L.M. (2007) Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet C Semin Med Genet 145C, 293-301.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 293-301
-
-
Moog, U.1
van Mierlo, I.2
van Schrojenstein Lantman-de Valk, H.M.3
Spaapen, L.4
Maaskant, M.A.5
Curfs, L.M.6
-
22
-
-
0015371029
-
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.
-
O'Brien, J.S. (1972) Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. Proc Natl Acad Sci U S A 69, 1720-1722.
-
(1972)
Proc Natl Acad Sci U S A
, vol.69
, pp. 1720-1722
-
-
O'Brien, J.S.1
-
23
-
-
0037452606
-
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
-
Ohmi, K., Greenberg, D.S., Rajavel, K.S., Ryazantsev, S., Li, H.H. & Neufeld, E.F. (2003) Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci U S A 100, 1902-1907.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 1902-1907
-
-
Ohmi, K.1
Greenberg, D.S.2
Rajavel, K.S.3
Ryazantsev, S.4
Li, H.H.5
Neufeld, E.F.6
-
24
-
-
0028299741
-
Thigmotaxis as an index of anxiety in mice. Influence of dopaminergic transmissions.
-
Simon, P., Dupuis, R. & Costentin, J. (1994) Thigmotaxis as an index of anxiety in mice. Influence of dopaminergic transmissions. Behav Brain Res 61, 59-64.
-
(1994)
Behav Brain Res
, vol.61
, pp. 59-64
-
-
Simon, P.1
Dupuis, R.2
Costentin, J.3
-
25
-
-
43149098040
-
Sanfilippo syndrome: a mini-review.
-
Valstar, M.J., Ruijter, G.J., van Diggelen, O.P., Poorthuis, B.J. & Wijburg, F.A. (2008) Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 31, 240-252.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 240-252
-
-
Valstar, M.J.1
Ruijter, G.J.2
van Diggelen, O.P.3
Poorthuis, B.J.4
Wijburg, F.A.5
-
26
-
-
0034527294
-
Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B.
-
Yu, W.H., Zhao, K.W., Ryazantsev, S., Rozengurt, N. & Neufeld, E.F. (2000) Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B. Mol Genet Metab 71, 573-580.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 573-580
-
-
Yu, W.H.1
Zhao, K.W.2
Ryazantsev, S.3
Rozengurt, N.4
Neufeld, E.F.5
-
27
-
-
15844423859
-
The molecular basis of Sanfilippo syndrome type B.
-
Zhao, H.G., Li, H.H., Bach, G., Schmidtchen, A. & Neufeld, E.F. (1996) The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A 93, 6101-6105.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 6101-6105
-
-
Zhao, H.G.1
Li, H.H.2
Bach, G.3
Schmidtchen, A.4
Neufeld, E.F.5
|