-
1
-
-
0033774736
-
Neuronal ceroid lipofuscinoses in childhood
-
Santavuori P., Lauronen L., Kirveskari E., Åberg L., Sainio K., Autti T. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci. 2000; 21: S35-S41.
-
(2000)
Neurol Sci.
, vol.21
-
-
Santavuori, P.1
Lauronen, L.2
Kirveskari, E.3
Åberg, L.4
Sainio, K.5
Autti, T.6
-
2
-
-
0032786953
-
Thirty years of Batten disease research: Present status and future goals
-
Rider JA, Rider DL Thirty years of Batten disease research: Present status and future goals. Mol Genet Metab. 1999; 66: 231-233.
-
(1999)
Mol Genet Metab.
, vol.66
, pp. 231-233
-
-
Rider, J.A.1
Rider, D.L.2
-
3
-
-
0000118993
-
Batten disease or neuronal ceroid lipofuscinosis
-
In: Moser HW, ed. (66) Maclean, Va: Elsevier Science B.V
-
Boustany R-M. Batten disease or neuronal ceroid lipofuscinosis. In: Moser HW, ed. Handbook of Clinical Neurology. Vol 22(66). Maclean, Va: Elsevier Science B.V.; 1996: 671-700.
-
(1996)
Handbook of Clinical Neurology
, vol.22
, pp. 671-700
-
-
Boustany, R.-M.1
-
4
-
-
16444366586
-
CLN3, the protein associated with batten disease: Structure, function and localization
-
Phillips SN, Benedict JW, Weimer JM, Pearce DA CLN3, the protein associated with batten disease: Structure, function and localization. J Neurosci Res. 2005; 79: 573-583.
-
(2005)
J Neurosci Res.
, vol.79
, pp. 573-583
-
-
Phillips, S.N.1
Benedict, J.W.2
Weimer, J.M.3
Pearce, D.A.4
-
5
-
-
16944364280
-
Spectrum of mutations in the Batten disease gene, CLN3
-
Munroe PB, Mitchison HM, O'Rawe AM, et al. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet. 1997; 61: 310-316.
-
(1997)
Am J Hum Genet.
, vol.61
, pp. 310-316
-
-
Munroe, P.B.1
Mitchison, H.M.2
O'Rawe, A.M.3
-
6
-
-
0015821517
-
A clinical and psychological investigation into juvenile amaurotic idiocy in Denmark
-
Lou HC, Kristensen K. A clinical and psychological investigation into juvenile amaurotic idiocy in Denmark. Dev Med Child Neurol. 1973; 15: 313-323.
-
(1973)
Dev Med Child Neurol.
, vol.15
, pp. 313-323
-
-
Lou, H.C.1
Kristensen, K.2
-
7
-
-
0035137551
-
Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis
-
Lamminranta S., Åberg LE, Autti T., et al. Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2001; 45: 8-17.
-
(2001)
J Intellect Disabil Res.
, vol.45
, pp. 8-17
-
-
Lamminranta, S.1
Åberg, L.E.2
Autti, T.3
-
8
-
-
0033053188
-
Lamotrigine therapy in juvenile neuronal ceroid lipofuscinosis
-
Åberg L., Kirveskari E., Santavuori P. Lamotrigine therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia. 1999; 40: 796-799.
-
(1999)
Epilepsia
, vol.40
, pp. 796-799
-
-
Åberg, L.1
Kirveskari, E.2
Santavuori, P.3
-
9
-
-
22544469698
-
A clinical rating scale for Batten disease: Reliable and relevant for clinical trials
-
Marshall FJ, de Blieck EA, Mink JW, et al. A clinical rating scale for Batten disease: Reliable and relevant for clinical trials. Neurology. 2005; 65: 275-279.
-
(2005)
Neurology
, vol.65
, pp. 275-279
-
-
Marshall, F.J.1
de Blieck, E.A.2
Mink, J.W.3
-
12
-
-
4844227911
-
-
Psychological Corporation. Antonio, Tex: The Psychological Corporation
-
Psychological Corporation. WAIS-III, WMS-III. Technical Manual. San Antonio, Tex: The Psychological Corporation; 2002.
-
(2002)
WAIS-III, WMS-III. Technical Manual San
-
-
-
17
-
-
4344621683
-
Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease
-
Rothberg PG, Ramirez-Montealegre D., Frazier SD, Pearce DA Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J Mol Diagn. 2004; 6: 260-263.
-
(2004)
J Mol Diagn.
, vol.6
, pp. 260-263
-
-
Rothberg, P.G.1
Ramirez-Montealegre, D.2
Frazier, S.D.3
Pearce, D.A.4
-
18
-
-
13844266218
-
Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis
-
Bäckman ML, Santavuori PR, Åberg LE, Aronen ET Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2005; 49: 25-32.
-
(2005)
J Intellect Disabil Res.
, vol.49
, pp. 25-32
-
-
Bäckman, M.L.1
Santavuori, P.R.2
Åberg, L.E.3
Aronen, E.T.4
-
19
-
-
33645030499
-
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
-
Adams H., de Blieck EA, Mink JW, et al. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2006; 48: 259-264.
-
(2006)
Dev Med Child Neurol.
, vol.48
, pp. 259-264
-
-
Adams, H.1
de Blieck, E.A.2
Mink, J.W.3
-
20
-
-
0020524922
-
Central nervous system dysfunction as an early sign of neuronal ceroid lipofuscinosis (Batten's disease)
-
Kristensen K., Lou HC Central nervous system dysfunction as an early sign of neuronal ceroid lipofuscinosis (Batten's disease). Dev Med Child Neurol. 1983; 25: 588-590.
-
(1983)
Dev Med Child Neurol.
, vol.25
, pp. 588-590
-
-
Kristensen, K.1
Lou, H.C.2
-
21
-
-
0032693385
-
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome
-
Krivit W., Aubourg P., Shapiro E., Peters C. Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol. 1999; 6: 377-382.
-
(1999)
Curr Opin Hematol.
, vol.6
, pp. 377-382
-
-
Krivit, W.1
Aubourg, P.2
Shapiro, E.3
Peters, C.4
-
22
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
-
Peters C., Balthazor M., Shapiro EG, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood. 1996; 87: 4894-4902.
-
(1996)
Blood.
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.G.3
-
23
-
-
0032941197
-
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III
-
Krivit W., Peters C., Shapiro E. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol. 1999; 12: 167-176.
-
(1999)
Curr Opin Neurol.
, vol.12
, pp. 167-176
-
-
Krivit, W.1
Peters, C.2
Shapiro, E.3
-
24
-
-
0029146242
-
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro E., Lockman LA, Balthazor M., Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis. 1995; 19: 413-429.
-
(1995)
J Inherit Metab Dis.
, vol.19
, pp. 413-429
-
-
Shapiro, E.1
Lockman, L.A.2
Balthazor, M.3
Krivit, W.4
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