-
1
-
-
0020561801
-
Baltic' myoclonus epilepsy: Hereditary disorder of childhood made worse by phenytoin
-
Eldridge R, Iivanainen M, Stern R, Koerber T, Wilder BJ. (1983) 'Baltic' myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet 2:838-842.
-
(1983)
Lancet
, vol.2
, pp. 838-842
-
-
Eldridge, R.1
Iivanainen, M.2
Stern, R.3
Koerber, T.4
Wilder, B.J.5
-
2
-
-
0014463623
-
Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy
-
Haltia M, Kristensson K, Sourander P. (1969) Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. Acta Neurologica Scandinavica 45:63-77.
-
(1969)
Acta Neurologica Scandinavica
, vol.45
, pp. 63-77
-
-
Haltia, M.1
Kristensson, K.2
Sourander, P.3
-
3
-
-
17744417425
-
Activation of caspase-3 like protease by digitonin-treated lysosomes
-
Ishisaka R, Utsumi T, Yabuki M, Kanno T, Inoue M, Utsumi K. (1998) Activation of caspase-3 like protease by digitonin-treated lysosomes. FEBS Letters 433:233-236.
-
(1998)
FEBS Letters
, vol.433
, pp. 233-236
-
-
Ishisaka, R.1
Utsumi, T.2
Yabuki, M.3
Kanno, T.4
Inoue, M.5
Utsumi, K.6
-
4
-
-
0035126008
-
Activation of caspase-3 by lysosomal cysteine proteases and its role in 2,2′-azobis-(2-amidino propane) dihydrochloride (AAPH)-induced apoptosis in HL-60 cells
-
Ishisaka R, Kanno T, Akiyama J, Yoshioka T, Utsumi K, Utsumi T. (2001) Activation of caspase-3 by lysosomal cysteine proteases and its role in 2,2′-azobis-(2-amidino propane) dihydrochloride (AAPH)-induced apoptosis in HL-60 cells. Journal of Biochemistry 129:35-41.
-
(2001)
Journal of Biochemistry
, vol.129
, pp. 35-41
-
-
Ishisaka, R.1
Kanno, T.2
Akiyama, J.3
Yoshioka, T.4
Utsumi, K.5
Utsumi, T.6
-
5
-
-
0035887215
-
Sphingosine-induced apoptosis is dependent on lysosomal proteases
-
Kagedal K, Zhao M, Svensson I, Brunk UT. (2001) Sphingosine-induced apoptosis is dependent on lysosomal proteases. Biochemical Journal 359:335-343.
-
(2001)
Biochemical Journal
, vol.359
, pp. 335-343
-
-
Kagedal, K.1
Zhao, M.2
Svensson, I.3
Brunk, U.T.4
-
6
-
-
0016138252
-
Progressive myoclonus epilepsy. A clinical and histopathological study
-
Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. (1974) Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurologica Scandinavica 50:307-332.
-
(1974)
Acta Neurologica Scandinavica
, vol.50
, pp. 307-332
-
-
Koskiniemi, M.1
Donner, M.2
Majuri, H.3
Haltia, M.4
Norio, R.5
-
7
-
-
0036372801
-
Clinical features and genetics of Unverricht-Lundborg disease
-
Lehesjoki AE. (2002) Clinical features and genetics of Unverricht-Lundborg disease. Advances in Neurology 89:193-197.
-
(2002)
Advances in Neurology
, vol.89
, pp. 193-197
-
-
Lehesjoki, A.E.1
-
8
-
-
0041813308
-
Molecular background of progressive myoclonus epilepsy
-
Lehesjoki AE. (2003) Molecular background of progressive myoclonus epilepsy. EMBO Journal 22:3473-3478.
-
(2003)
EMBO Journal
, vol.22
, pp. 3473-3478
-
-
Lehesjoki, A.E.1
-
9
-
-
0018428007
-
Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
-
Norio R, Koskiniemi M. (1979) Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clinical Genetics 15:382-398.
-
(1979)
Clinical Genetics
, vol.15
, pp. 382-398
-
-
Norio, R.1
Koskiniemi, M.2
-
10
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1734.
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, L.A.1
Lehesjoki, A.E.2
Stone, N.E.3
Willour, V.L.4
Virtaneva, K.5
Miao, J.6
D'Amato, E.7
Ramirez, L.8
Faham, M.9
Koskiniemi, M.10
Warrington, J.A.11
Norio, R.12
de la Chapelle, A.13
Cox, D.R.14
Myers, R.M.15
-
11
-
-
0031764610
-
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
-
Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nature Genetics 20:251-258.
-
(1998)
Nature Genetics
, vol.20
, pp. 251-258
-
-
Pennacchio, L.A.1
Bouley, D.M.2
Higgins, K.M.3
Scott, M.P.4
Noebels, J.L.5
Myers, R.M.6
-
12
-
-
0036434216
-
Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy
-
Rinne R, Saukko P, Jarvinen M, Lehesjoki AE. (2002) Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Annals of Medicine 34:380-385.
-
(2002)
Annals of Medicine
, vol.34
, pp. 380-385
-
-
Rinne, R.1
Saukko, P.2
Jarvinen, M.3
Lehesjoki, A.E.4
-
13
-
-
0036899408
-
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease
-
Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM. (2002) Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. Journal of Neuropathology and Experimental Neurology 61:1085-1091.
-
(2002)
Journal of Neuropathology and Experimental Neurology
, vol.61
, pp. 1085-1091
-
-
Shannon, P.1
Pennacchio, L.A.2
Houseweart, M.K.3
Minassian, B.A.4
Myers, R.M.5
-
14
-
-
0035165103
-
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
-
Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics 10:39-45.
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 39-45
-
-
Thomas, P.Q.1
Dattani, M.T.2
Brickman, J.M.3
McNay, D.4
Warne, G.5
Zacharin, M.6
Cameron, F.7
Hurst, J.8
Woods, K.9
Dunger, D.10
Stanhope, R.11
Forrest, S.12
Robinson, I.C.13
Beddington, R.S.14
-
15
-
-
0031793017
-
Atractyloside-induced release of cathepsin B, a protease with caspase-processing activity
-
Vancompernolle K, Van Herreweghe F, Pynaert G, Van de Craen M, De Vos K, Totty N, Sterling A, Fiers W, Vandenabeele P, Grooten J. (1998) Atractyloside-induced release of cathepsin B, a protease with caspase-processing activity. FEBS Letters 438:150-158.
-
(1998)
FEBS Letters
, vol.438
, pp. 150-158
-
-
Vancompernolle, K.1
Van Herreweghe, F.2
Pynaert, G.3
Van de Craen, M.4
De Vos, K.5
Totty, N.6
Sterling, A.7
Fiers, W.8
Vandenabeele, P.9
Grooten, J.10
-
16
-
-
0027194462
-
New stereological methods for counting neurons
-
West MJ. (1993) New stereological methods for counting neurons. Neurobiology of Aging 14:275-285.
-
(1993)
Neurobiology of Aging
, vol.14
, pp. 275-285
-
-
West, M.J.1
-
17
-
-
0037197938
-
Lysosomal destabilization in p53-induced apoptosis
-
Yuan XM, Li W, Dalen H, Lotem J, Kama R, Sachs L, Brunk UT. (2002) Lysosomal destabilization in p53-induced apoptosis. Proceedings of the National Academy of Sciences of the USA 99:6286-6291.
-
(2002)
Proceedings of the National Academy of Sciences of the USA
, vol.99
, pp. 6286-6291
-
-
Yuan, X.M.1
Li, W.2
Dalen, H.3
Lotem, J.4
Kama, R.5
Sachs, L.6
Brunk, U.T.7
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