-
1
-
-
0023005321
-
Progressive myoclonus epilepsies: Specific causes and diagnosis
-
Berkovic SF, Andermann F, Carpenter S, et al. Progressive myoclonus epilepsies: Specific causes and diagnosis. N Engl J Med 1986;315:296-305 (Pubitemid 16099975)
-
(1986)
New England Journal of Medicine
, vol.315
, Issue.5
, pp. 296-305
-
-
Berkovic, S.F.1
Andermann, F.2
Carpenter, S.3
Wolfe, L.S.4
-
2
-
-
0025371052
-
Classification of progressive myoclonus epilepsies and related disorders
-
Group MC. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990;28:113-16
-
(1990)
Ann Neurol
, vol.28
, pp. 113-116
-
-
Group, M.C.1
-
3
-
-
0016138252
-
Progressive myoclonus epilepsy. A clinical and histopathological study
-
Koskiniemi M, Donner M, Majuri H, et al. Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 1974; 50:307-32
-
(1974)
Acta Neurol Scand
, vol.50
, pp. 307-332
-
-
Koskiniemi, M.1
Donner, M.2
Majuri, H.3
-
4
-
-
0018428007
-
Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
-
Norio R, Koskiniemi M. Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979;15:382-98 (Pubitemid 9171393)
-
(1979)
Clinical Genetics
, vol.15
, Issue.5
, pp. 382-398
-
-
Norio, R.1
Koskiniemi, M.2
-
5
-
-
43349095144
-
Clinical picture of EPM1-Unverricht-Lundborg disease
-
DOI 10.1111/j.1528-1167.2008.01546.x
-
Kälviäinen R, Khyuppenen J, Koskenkorva P, et al. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008;49:549-56 (Pubitemid 351661066)
-
(2008)
Epilepsia
, vol.49
, Issue.4
, pp. 549-556
-
-
Kalviainen, R.1
Khyuppenen, J.2
Koskenkorva, P.3
Eriksson, K.4
Vanninen, R.5
Mervaala, E.6
-
6
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-34 (Pubitemid 26102822)
-
(1996)
Science
, vol.271
, Issue.5256
, 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
-
7
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti MD, Scott HS, Buresi C, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997;386: 847-51 (Pubitemid 27181260)
-
(1997)
Nature
, vol.386
, Issue.6627
, pp. 847-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
Rossier, C.4
Bottani, A.5
Morris, M.A.6
Malafosse, A.7
Antonarakis, S.E.8
-
8
-
-
43349093939
-
Molecular background of EPM1 - Unverricht-Lundborg disease
-
DOI 10.1111/j.1528-1167.2007.01422.x
-
Joensuu T, Lehesjoki AE, Kopra O. Molecular background of EPM1- Unverricht-Lundborg disease. Epilepsia 2008;49:557-63 (Pubitemid 351661041)
-
(2008)
Epilepsia
, vol.49
, Issue.4
, pp. 557-563
-
-
Joensuu, T.1
Lehesjoki, A.-E.2
Kopra, O.3
-
9
-
-
0036434216
-
Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy
-
DOI 10.1080/078538902320772124
-
Rinne R, Saukko P, Järvinen M, et al. Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Ann Med 2002;34:380-85 (Pubitemid 35351826)
-
(2002)
Annals of Medicine
, vol.34
, Issue.5
, pp. 380-385
-
-
Rinne, R.1
Saukko, P.2
Jarvinen, M.3
Lehesjoki, A.-E.4
-
10
-
-
0031764610
-
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
-
DOI 10.1038/3059
-
Pennacchio LA, Bouley DM, Higgins KM, et al. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin BYdeficient mice. Nat Genet 1998;20:251-58 (Pubitemid 28507669)
-
(1998)
Nature Genetics
, vol.20
, Issue.3
, 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
-
11
-
-
0035446403
-
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes
-
Lieuallen K, Pennacchio LA, Park M, et al. Cystatin BYdeficient mice have increased expression of apoptosis and glial activation genes. Hum Mol Genet 2001;10:1867-71 (Pubitemid 32910530)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.18
, pp. 1867-1871
-
-
Lieuallen, K.1
Pennacchio, L.A.2
Park, M.3
Myers, R.M.4
Lennon, G.G.5
-
12
-
-
0036899408
-
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease
-
Shannon P, Pennacchio LA, Houseweart MK, et al. Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease. J Neuropathol Exp Neurol 2002;61:1085-91 (Pubitemid 35435027)
-
(2002)
Journal of Neuropathology and Experimental Neurology
, vol.61
, Issue.12
, pp. 1085-1091
-
-
Shannon, P.1
Pennacchio, L.A.2
Houseweart, M.K.3
Minassian, B.A.4
Myers, R.M.5
-
13
-
-
33847214595
-
A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression
-
Franceschetti S, Sancini G, Buzzi A, et al. A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis 2007;25:675-85
-
(2007)
Neurobiol Dis
, vol.25
, pp. 675-685
-
-
Franceschetti, S.1
Sancini, G.2
Buzzi, A.3
-
14
-
-
65949112253
-
Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1
-
Lehtinen MK, Tegelberg S, Schipper H, et al. Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. J Neurosci 2009;29:5910-15
-
(2009)
J Neurosci
, vol.29
, pp. 5910-5915
-
-
Lehtinen, M.K.1
Tegelberg, S.2
Schipper, H.3
-
15
-
-
0043011297
-
Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1)
-
DOI 10.1002/neu.10253
-
Houseweart MK, Pennacchio LA, Vilaythong A, et al. Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht- Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol 2003;56: 315-27 (Pubitemid 37010940)
-
(2003)
Journal of Neurobiology
, vol.56
, Issue.4
, pp. 315-327
-
-
Houseweart, M.K.1
Pennacchio, L.A.2
Vilaythong, A.3
Peters, C.4
Noebels, J.L.5
Myers, R.M.6
-
16
-
-
4544285361
-
-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation
-
DOI 10.1016/j.brainres.2004.07.030, PII S0006899304011485
-
Pontikis CC, Cella CV, Parihar N, et al. Late onset neurodegeneration in the Cln3j/j mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res 2004;1023:231-42 (Pubitemid 39221426)
-
(2004)
Brain Research
, vol.1023
, Issue.2
, pp. 231-242
-
-
Pontikis, C.C.1
Cella, C.V.2
Parihar, N.3
Lim, M.J.4
Chakrabarti, S.5
Mitchison, H.M.6
Mobley, W.C.7
Rezaie, P.8
Pearce, D.A.9
Cooper, J.D.10
-
17
-
-
2942597781
-
Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis
-
DOI 10.1016/j.nbd.2004.02.010, PII S0969996104000440
-
Bible E, Gupta P, Hofmann SL, et al. Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2004;16: 346-59 (Pubitemid 38757316)
-
(2004)
Neurobiology of Disease
, vol.16
, Issue.2
, pp. 346-359
-
-
Bible, E.1
Gupta, P.2
Hofmann, S.L.3
Cooper, J.D.4
-
19
-
-
33751349970
-
Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis
-
DOI 10.1016/j.nbd.2006.09.001, PII S096999610600221X
-
Kielar C,Maddox L, Bible E, et al. Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2007;25:150-62 (Pubitemid 44802811)
-
(2007)
Neurobiology of Disease
, vol.25
, Issue.1
, pp. 150-162
-
-
Kielar, C.1
Maddox, L.2
Bible, E.3
Pontikis, C.C.4
Macauley, S.L.5
Griffey, M.A.6
Wong, M.7
Sands, M.S.8
Cooper, J.D.9
-
20
-
-
84985280160
-
The efficiency of systematic sampling in stereology and its prediction
-
Gundersen HJ, Jensen EB. The efficiency of systematic sampling in stereology and its prediction. J Microsc 1987;147:229-63
-
(1987)
J Microsc
, vol.147
, pp. 229-263
-
-
Gundersen, H.J.1
Jensen, E.B.2
-
21
-
-
0028047168
-
Cortical reactivity in progressive myoclonus epilepsy
-
DOI 10.1016/0013-4694(94)90001-9
-
Karhu J, Hari R, Paetau R, et al. Cortical reactivity in progressive myoclonus epilepsy. Electroencephalogr Clin Neurophysiol 1994;90:93-102 (Pubitemid 24061076)
-
(1994)
Electroencephalography and Clinical Neurophysiology
, vol.90
, Issue.2
, pp. 93-102
-
-
Karhu, J.1
Hari, R.2
Paetau, R.3
Kajola, M.4
Mervaala, E.5
-
22
-
-
0014463623
-
Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy
-
Haltia M, Kristensson K, Sourander P. Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. Acta Neurol Scand 1969;45:63-77
-
(1969)
Acta Neurol Scand
, vol.45
, pp. 63-77
-
-
Haltia, M.1
Kristensson, K.2
Sourander, P.3
-
23
-
-
0020561801
-
'Baltic' myoclonus epilepsy: Hereditary disorder of childhood made worse by phenytoin
-
Eldridge R, Iivanainen M, Stern R, et al. "Baltic" myoclonus epilepsy: Hereditary disorder of childhood made worse by phenytoin. Lancet 1983; 2:838-42 (Pubitemid 13009274)
-
(1983)
Lancet
, vol.2
, Issue.8354
, pp. 838-842
-
-
Eldridge, R.1
Iivanainen, M.2
Stern, R.3
-
24
-
-
33750976371
-
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis
-
DOI 10.1016/j.bbadis.2006.08.002, PII S0925443906001517, Molecular Basis of Disease
-
Cooper JD, Russell C, Mitchison HM. Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 2006;1762:873-89 (Pubitemid 44740126)
-
(2006)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1762
, Issue.10
, pp. 873-889
-
-
Cooper, J.D.1
Russell, C.2
Mitchison, H.M.3
-
25
-
-
37549057968
-
Synaptic changes in the thalamocortical system of cathepsin DYdeficient mice: A model of human congenital neuronal ceroid-lipofuscinosis
-
Partanen S, Haapanen A, Kielar C, et al. Synaptic changes in the thalamocortical system of cathepsin DYdeficient mice: A model of human congenital neuronal ceroid-lipofuscinosis. J Neuropathol Exp Neurol 2008;67:16-29
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 16-29
-
-
Partanen, S.1
Haapanen, A.2
Kielar, C.3
-
26
-
-
64649097377
-
Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL
-
Schantz C, Kielar C, Hansen SN, et al. Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL. Neurobiol Dis 2009;34:308-19
-
(2009)
Neurobiol Dis
, vol.34
, pp. 308-319
-
-
Schantz, C.1
Kielar, C.2
Hansen, S.N.3
-
27
-
-
78649747041
-
The neuronal ceroid lipofuscinoses: The same, but different?
-
Cooper JD. The neuronal ceroid lipofuscinoses: The same, but different? Biochem Soc Trans 2010;38:1448-52
-
(2010)
Biochem Soc Trans
, vol.38
, pp. 1448-1452
-
-
Cooper, J.D.1
-
29
-
-
0025118272
-
The effect of unilateral claustral lesion on intermittent light stimulation induced seizure in D, L-allylglycine treated cats
-
Kudo T, Wada JA. The effect of unilateral claustral lesion on intermittent light stimulation induced seizure in d, l-allylglycine treated cats. Jpn J Psychiatry Neurol 1990;44:436-37 (Pubitemid 20276211)
-
(1990)
Japanese Journal of Psychiatry and Neurology
, vol.44
, Issue.2
, pp. 436-437
-
-
Kudo, T.1
Wada, J.A.2
-
30
-
-
0030326315
-
Neurons of the claustrum projecting to the motor and somatosensory cortex in the rabbitV assessment with the method of retrograde transport of fluorescent tracers
-
Kowianski P, Morys J, Dziewiatkowski J, et al. Neurons of the claustrum projecting to the motor and somatosensory cortex in the rabbitV assessment with the method of retrograde transport of fluorescent tracers. Folia Morphol (Warsz) 1996;55:350-52
-
(1996)
Folia Morphol (Warsz)
, vol.55
, pp. 350-352
-
-
Kowianski, P.1
Morys, J.2
Dziewiatkowski, J.3
-
31
-
-
0021357457
-
Afferent fibers to rat cingulate cortex
-
DOI 10.1016/0014-4886(84)90116-X
-
Finch DM, Derian EL, Babb TL. Afferent fibers to rat cingulate cortex. Exp Neurol 1984;83:468-85 (Pubitemid 14157746)
-
(1984)
Experimental Neurology
, vol.83
, Issue.3
, pp. 468-485
-
-
Finch, D.M.1
Derian, E.L.2
Babb, T.L.3
-
32
-
-
0018776437
-
Thalamic and cortical afferents differentiate anterior from posterior cingulate cortex in the monkey
-
Vogt BA, Rosene DL, Pandya DN. Thalamic and cortical afferents differentiate anterior from posterior cingulate cortex in the monkey. Science 1979;204:205-7 (Pubitemid 9188833)
-
(1979)
Science
, vol.204
, Issue.4389
, pp. 205-207
-
-
Vogt, B.A.1
Rosene, D.L.2
Pandya, D.N.3
-
33
-
-
0001308392
-
Fibre degeneration following lesions of the amygdaloid complex in the monkey
-
Nauta WJ. Fibre degeneration following lesions of the amygdaloid complex in the monkey. J Anat 1961;95:515-31
-
(1961)
J Anat
, vol.95
, pp. 515-531
-
-
Nauta, W.J.1
-
34
-
-
0014249959
-
Some striatal connections to the claustrum
-
Andersen DL. Some striatal connections to the claustrum. Exp Neurol 1968;20:261-67
-
(1968)
Exp Neurol
, vol.20
, pp. 261-267
-
-
Andersen, D.L.1
-
35
-
-
0022639852
-
Diencephalic and mesencephalic afferents of the rat claustrum
-
DOI 10.1007/BF00318925
-
Sloniewski P, Usunoff KG, Pilgrim C. Diencephalic and mesencephalic afferents of the rat claustrum. Anat Embryol (Berl) 1986;173:401-11 (Pubitemid 16165472)
-
(1986)
Anatomy and Embryology
, vol.173
, Issue.3
, pp. 401-411
-
-
Sloniewski, P.1
Usunoff, K.G.2
Pilgrim, C.3
-
36
-
-
0032814562
-
Neuroglial activation repertoire in the injured brain: Graded response, molecular mechanisms and cues to physiological function
-
DOI 10.1016/S0165-0173(99)00007-7, PII S0165017399000077
-
Raivich G, Bohatschek M, Kloss CU, et al. Neuroglial activation repertoire in the injured brain: Graded response, molecular mechanisms and cues to physiological function. Brain Res Brain Res Rev 1999;30:77-105 (Pubitemid 29331517)
-
(1999)
Brain Research Reviews
, vol.30
, Issue.1
, pp. 77-105
-
-
Raivich, G.1
Bohatschek, M.2
Kloss, C.U.A.3
Werner, A.4
Jones, L.L.5
Kreutzberg, G.W.6
-
37
-
-
0036847816
-
Microglia as neuroprotective, immunocompetent cells of the CNS
-
DOI 10.1002/glia.10154
-
Streit WJ. Microglia as neuroprotective, immunocompetent cells of the CNS. Glia 2002;40:133-39 (Pubitemid 35337371)
-
(2002)
GLIA
, vol.40
, Issue.2
, pp. 133-139
-
-
Streit, W.J.1
-
38
-
-
0033980264
-
Microglial response to brain injury: A brief synopsis
-
Streit WJ. Microglial response to brain injury: A brief synopsis. Toxicol Pathol 2000;28:28-30 (Pubitemid 30078202)
-
(2000)
Toxicologic Pathology
, vol.28
, Issue.1
, pp. 28-30
-
-
Streit, W.J.1
-
39
-
-
77956537707
-
Microglia and neuroprotection: From in vitro studies to therapeutic applications
-
Polazzi E, Monti B. Microglia and neuroprotection: From in vitro studies to therapeutic applications. Prog Neurobiol 92:293-315
-
Prog Neurobiol
, vol.92
, pp. 293-315
-
-
Polazzi, E.1
Monti, B.2
-
40
-
-
55049084760
-
The mystery and magic of glia: A perspective on their roles in health and disease
-
Barres BA. The mystery and magic of glia: A perspective on their roles in health and disease. Neuron 2008;60:430-40
-
(2008)
Neuron
, vol.60
, pp. 430-440
-
-
Barres, B.A.1
-
41
-
-
0035096992
-
Microglial secreted cathepsin B induces neuronal apoptosis
-
DOI 10.1046/j.1471-4159.2001.00146.x
-
Kingham PJ, Pocock JM. Microglial secreted cathepsin B induces neuronal apoptosis. J Neurochem 2001;76:1475-84 (Pubitemid 32198252)
-
(2001)
Journal of Neurochemistry
, vol.76
, Issue.5
, pp. 1475-1484
-
-
Kingham, P.J.1
Pocock, J.M.2
-
42
-
-
0141539641
-
Neuronal and microglial cathepsins in aging and age-related diseases
-
DOI 10.1016/S1568-1637(03)00027-8
-
Nakanishi H. Neuronal and microglial cathepsins in aging and age-related diseases. Ageing Res Rev 2003;2:367-81 (Pubitemid 37159399)
-
(2003)
Ageing Research Reviews
, vol.2
, Issue.4
, pp. 367-381
-
-
Nakanishi, H.1
-
43
-
-
0035696328
-
Intrahippocampal LPS injections reduce Aβ load in APP+PS1 transgenic mice
-
DOI 10.1016/S0197-4580(01)00292-5, PII S0197458001002925
-
DiCarlo G, Wilcock D, Henderson D, et al. Intrahippocampal LPS injections reduce Abeta load in APP+PS1 transgenic mice. Neurobiol Aging 2001;22:1007-12 (Pubitemid 34066568)
-
(2001)
Neurobiology of Aging
, vol.22
, Issue.6
, pp. 1007-1012
-
-
DiCarlo, G.1
Wilcock, D.2
Henderson, D.3
Gordon, M.4
Morgan, D.5
-
44
-
-
33847783428
-
Formation of multinucleated giant cells and microglial degeneration in rats expressing a mutant Cu/Zn superoxide dismutase gene
-
Fendrick SE, Xue QS, Streit WJ. Formation of multinucleated giant cells and microglial degeneration in rats expressing a mutant Cu/Zn superoxide dismutase gene. J Neuroinflammation 2007;4:9
-
(2007)
J Neuroinflammation
, vol.4
, pp. 9
-
-
Fendrick, S.E.1
Xue, Q.S.2
Streit, W.J.3
|