-
1
-
-
0021084827
-
Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: An epidemiological study
-
Nidiffer FD, Kelly TE (1983) Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res 27(Pt 3): 185-203.
-
(1983)
J Ment Defic Res
, vol.27
, Issue.PART 3
, pp. 185-203
-
-
Nidiffer, F.D.1
Kelly, T.E.2
-
2
-
-
0029023563
-
Behaviour in mucopolysaccharide disorders
-
Bax MC, Colville GA (1995) Behaviour in mucopolysaccharide disorders. Arch Dis Child 73: 77-81.
-
(1995)
Arch Dis Child
, vol.73
, pp. 77-81
-
-
Bax, M.C.1
Colville, G.A.2
-
4
-
-
0037214458
-
Sleep disorders in Sanfilippo syndrome: A polygraphic study
-
Mariotti P, Della Marca G, Iuvone L, Vernacotola S, Ricci R, et al. (2003) Sleep disorders in Sanfilippo syndrome: a polygraphic study. Clin Electroencephalogr 34: 18-22.
-
(2003)
Clin Electroencephalogr
, vol.34
, pp. 18-22
-
-
Mariotti, P.1
Della Marca, G.2
Iuvone, L.3
Vernacotola, S.4
Ricci, R.5
-
5
-
-
0034801764
-
Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B)
-
Zafeiriou DI, Savvopoulou-Augoustidou PA, Sewell A, Papadopoulou F, Badouraki M, et al. (2001) Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B). Brain Dev 23: 385-389.
-
(2001)
Brain Dev
, vol.23
, pp. 385-389
-
-
Zafeiriou, D.I.1
Savvopoulou-Augoustidou, P.A.2
Sewell, A.3
Papadopoulou, F.4
Badouraki, M.5
-
8
-
-
0018957175
-
Pathologic findings in mucopolysaccharidosis type IIIB (Sanfilippo's sydnrome B)
-
Hadfield MG, Ghatak NR, Nakoneczna I, Lippman HR, Myer EC, et al. (1980) Pathologic findings in mucopolysaccharidosis type IIIB (Sanfilippo's sydnrome B). Arch Neurol 37: 645-650.
-
(1980)
Arch Neurol
, vol.37
, pp. 645-650
-
-
Hadfield, M.G.1
Ghatak, N.R.2
Nakoneczna, I.3
Lippman, H.R.4
Myer, E.C.5
-
9
-
-
0023683825
-
Focal dendritic swellings in Purkinje cells in mucopolysaccharidoses types I, II and III. A Golgi and ultrastructural study
-
Ferrer I, Cusi V, Pineda M, Galofre E, Vila J (1988) Focal dendritic swellings in Purkinje cells in mucopolysaccharidoses types I, II and III. A Golgi and ultrastructural study. Neuropathol Appl Neurobiol 14: 315-323.
-
(1988)
Neuropathol Appl Neurobiol
, vol.14
, pp. 315-323
-
-
Ferrer, I.1
Cusi, V.2
Pineda, M.3
Galofre, E.4
Vila, J.5
-
10
-
-
10744232302
-
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs
-
Ellinwood NM, Wang P, Skeen T, Sharp NJ, Cesta M, et al. (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26: 489-504.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 489-504
-
-
Ellinwood, N.M.1
Wang, P.2
Skeen, T.3
Sharp, N.J.4
Cesta, M.5
-
11
-
-
0032719681
-
Clinical and neuroradiological follow-up in mucopolysacrharidosis type III (Sanfilippo syndrome)
-
Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, et al. (1999) Clinical and neuroradiological follow-up in mucopolysacrharidosis type III (Sanfilippo syndrome). Neuropediatrics 30: 270-274.
-
(1999)
Neuropediatrics
, vol.30
, pp. 270-274
-
-
Barone, R.1
Nigro, F.2
Triulzi, F.3
Musumeci, S.4
Fiumara, A.5
-
12
-
-
0020604867
-
Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B
-
Lavery MA, Green WR, Jabs EW, Luckenbach MW, Cox JL (1983) Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B. Arch Ophthalmol 101: 1263-1274.
-
(1983)
Arch Ophthalmol
, vol.101
, pp. 1263-1274
-
-
Lavery, M.A.1
Green, W.R.2
Jabs, E.W.3
Luckenbach, M.W.4
Cox, J.L.5
-
13
-
-
0018400263
-
Sanfilippo B syndrome (MPS III B): Mild and severe forms within the same sibship
-
Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P (1979) Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. Clin Genet 15: 500-504.
-
(1979)
Clin Genet
, vol.15
, pp. 500-504
-
-
Andria, G.1
Di Natale, P.2
Del Giudice, E.3
Strisciuglio, P.4
Murino, P.5
-
14
-
-
0019406297
-
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A; B, and C)
-
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A; B, and C). Clin Genet 20: 152-160.
-
(1981)
Clin Genet
, vol.20
, pp. 152-160
-
-
van de Kamp, J.J.1
Niermeijer, M.F.2
von Figura, K.3
Giesberts, M.A.4
-
16
-
-
0034670152
-
Mucopolysaccharidosis type IIIB: Characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient
-
Yogalingam G, Weber B, Meehan J, Rogers J, Hopwood JJ (2000) Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. Biochim Biophys Acta 1502: 415-425.
-
(2000)
Biochim Biophys Acta
, vol.1502
, pp. 415-425
-
-
Yogalingam, G.1
Weber, B.2
Meehan, J.3
Rogers, J.4
Hopwood, J.J.5
-
17
-
-
0027487001
-
Management of mucopolysaccharidosis type III
-
Cleary MA, Wraith JE (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
-
18
-
-
0036644974
-
Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B
-
Li HH, Zhao HZ, Neufeld EF, Cai Y, Gomez-Pinilla F (2002) Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B. J Neurosci Res 69: 30-38.
-
(2002)
J Neurosci Res
, vol.69
, pp. 30-38
-
-
Li, H.H.1
Zhao, H.Z.2
Neufeld, E.F.3
Cai, Y.4
Gomez-Pinilla, F.5
-
19
-
-
0037452606
-
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB
-
Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, et al. (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
-
20
-
-
0013451138
-
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase
-
Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, et al. (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
-
21
-
-
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, et al. (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
-
22
-
-
0021958406
-
4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
-
Marsh J, Fensom AH (1983) 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 27: 258-262.
-
(1983)
Clin Genet
, vol.27
, pp. 258-262
-
-
Marsh, J.1
Fensom, A.H.2
-
23
-
-
0018863107
-
Strain-specific variations in the folial pattern of the mouse cerebellum
-
Inouye M, Oda SI (1980) Strain-specific variations in the folial pattern of the mouse cerebellum. J Comp Neurol 190: 357-362.
-
(1980)
J Comp Neurol
, vol.190
, pp. 357-362
-
-
Inouye, M.1
Oda, S.I.2
-
24
-
-
0345826009
-
Temporal precision in the mammalian circadian system: A reliable clock from less reliable neurons
-
Herzog ED, Aton SJ, Numano, R, Sakaki Y, Tei H (2004) Temporal precision in the mammalian circadian system: a reliable clock from less reliable neurons. J Biol Rhythms 19: 35-46.
-
(2004)
J Biol Rhythms
, vol.19
, pp. 35-46
-
-
Herzog, E.D.1
Aton, S.J.2
Numano, R.3
Sakaki, Y.4
Tei, H.5
-
25
-
-
0033710228
-
Retinal function is improved in a murine model of a lysosomal storage disease bone marrow transplantation
-
Ohlemiller KK, Vogler CA, Roberts M, Galvin N, Sands MS (2000) Retinal function is improved in a murine model of a lysosomal storage disease bone marrow transplantation. Exp Eye Res 71: 469-481.
-
(2000)
Exp Eye Res
, vol.71
, pp. 469-481
-
-
Ohlemiller, K.K.1
Vogler, C.A.2
Roberts, M.3
Galvin, N.4
Sands, M.S.5
-
26
-
-
3042812075
-
AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice
-
Hennig AK, Ogilvie JM, Ohlemiller KK, Timmers AM, Hauswirth WW, et al. (2004) AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice. Mol Ther 10: 106-116.
-
(2004)
Mol Ther
, vol.10
, pp. 106-116
-
-
Hennig, A.K.1
Ogilvie, J.M.2
Ohlemiller, K.K.3
Timmers, A.M.4
Hauswirth, W.W.5
-
27
-
-
0018248473
-
Suprachiasmatic nucleus responsiveness to photic and basal hypothalamic stimulation
-
Kreisel B, Conforti N, Gutnick M, Feldman S (1978) Suprachiasmatic nucleus responsiveness to photic and basal hypothalamic stimulation. Brain Res Bull 3: 707-714.
-
(1978)
Brain Res Bull
, vol.3
, pp. 707-714
-
-
Kreisel, B.1
Conforti, N.2
Gutnick, M.3
Feldman, S.4
-
28
-
-
33745586553
-
Strain background effects and genetic modifiers of hearing in mice
-
Johnson KR, Zheng QY, Noben-Trauth K (2006) Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091: 79-88.
-
(2006)
Brain Res
, vol.1091
, pp. 79-88
-
-
Johnson, K.R.1
Zheng, Q.Y.2
Noben-Trauth, K.3
-
29
-
-
0345268640
-
Sleep disturbance in mucopolysacharidosis type III(Sanfilippo syndrome): A survey of managing clinicians
-
Fraser J, Wraith JE, Delatycki MB (2002) Sleep disturbance in mucopolysacharidosis 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
-
30
-
-
28444479825
-
-
Fraser J. Gason AA, Wraith JE, Delatycki MB (2605) Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child 90: 1239-1242.
-
Fraser J. Gason AA, Wraith JE, Delatycki MB (2605) Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child 90: 1239-1242.
-
-
-
-
31
-
-
1542297684
-
Targeted microlesions reveal novel organization of the hamster suprachiasmatic nucleus
-
Kriegsfeld LJ, LeSauter J, Silver R (2004) Targeted microlesions reveal novel organization of the hamster suprachiasmatic nucleus. J Neurosci 24: 2449-2457.
-
(2004)
J Neurosci
, vol.24
, pp. 2449-2457
-
-
Kriegsfeld, L.J.1
LeSauter, J.2
Silver, R.3
-
32
-
-
0026769768
-
Otolaryngologic manifestations of the mucopolysaccharidoses
-
Bredenkamp JK, Smith ME, Dudley JP, Williams JC, Crumley RL, et al. (1992) Otolaryngologic manifestations of the mucopolysaccharidoses. Ann Otol Rhinol Laryngol 101: 472-478.
-
(1992)
Ann Otol Rhinol Laryngol
, vol.101
, pp. 472-478
-
-
Bredenkamp, J.K.1
Smith, M.E.2
Dudley, J.P.3
Williams, J.C.4
Crumley, R.L.5
-
33
-
-
84879796698
-
-
Gorlin R (1995) Genetic hearing loss associated with endocrine and metabolic disorders. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary Hearing Loss and its Syndromes. Oxford Monographs on Medical Genetics, No. 28. New York: Oxford University Press. pp 318-354.
-
Gorlin R (1995) Genetic hearing loss associated with endocrine and metabolic disorders. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary Hearing Loss and its Syndromes. Oxford Monographs on Medical Genetics, Vol No. 28. New York: Oxford University Press. pp 318-354.
-
-
-
-
34
-
-
0031908164
-
Otalogic and laryngologic manifestations of mucopolysaccharidoses after bone marrow transplantation
-
Papsin BC, Vellodi A, Bailey CM, Ratcliffe PC, Leighton SE (1998) Otalogic and laryngologic manifestations of mucopolysaccharidoses after bone marrow transplantation. Otolaryngol Head Neck Surg 118: 30-36.
-
(1998)
Otolaryngol Head Neck Surg
, vol.118
, pp. 30-36
-
-
Papsin, B.C.1
Vellodi, A.2
Bailey, C.M.3
Ratcliffe, P.C.4
Leighton, S.E.5
-
35
-
-
0033515007
-
Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease
-
Daly TM, Vogler C, Levy B, Haskins ME, Sands MS (1999) Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc Natl Acad Sci U S A 96: 2296-2300.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 2296-2300
-
-
Daly, T.M.1
Vogler, C.2
Levy, B.3
Haskins, M.E.4
Sands, M.S.5
-
36
-
-
3042817964
-
Preventing sensory loss in a mouse model of lysosomal storage disease
-
Willott JF, ed, New York. CRC Press. pp
-
Ohlemiller KK, Vogler CA, Daly TM, Sands MS (2001) Preventing sensory loss in a mouse model of lysosomal storage disease. In: Willott JF, ed. Handbook of mouse auditory research: From behavior to molecular biology. New York. CRC Press. pp 581-601.
-
(2001)
Handbook of mouse auditory research: From behavior to molecular biology
, pp. 581-601
-
-
Ohlemiller, K.K.1
Vogler, C.A.2
Daly, T.M.3
Sands, M.S.4
-
37
-
-
0036174123
-
Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease
-
Monroy MA, Ross FP, Teitelbaum SL, Sands MS (2002) Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. Bone 30: 352-359.
-
(2002)
Bone
, vol.30
, pp. 352-359
-
-
Monroy, M.A.1
Ross, F.P.2
Teitelbaum, S.L.3
Sands, M.S.4
-
38
-
-
0036019397
-
Inner ear pathology in the mueopolysaccharidosis VII mouse
-
Ohlemiller KK, Hermig AIC, Lett JM, Heidbreder AF, Sands MS (2002) Inner ear pathology in the mueopolysaccharidosis VII mouse. Hear Res 169: 69-84.
-
(2002)
Hear Res
, vol.169
, pp. 69-84
-
-
Ohlemiller, K.K.1
Hermig, A.I.C.2
Lett, J.M.3
Heidbreder, A.F.4
Sands, M.S.5
-
39
-
-
33646707019
-
The light-activated signaling pathway in SCN-projecting rat retinal ganglion cells
-
Warren EJ, Allen CN, Brown RL, Robinson DW (2006) The light-activated signaling pathway in SCN-projecting rat retinal ganglion cells. Eur J Neurosci 23: 2477-2487.
-
(2006)
Eur J Neurosci
, vol.23
, pp. 2477-2487
-
-
Warren, E.J.1
Allen, C.N.2
Brown, R.L.3
Robinson, D.W.4
|