-
1
-
-
0025833437
-
A case of childhood Kufs' disease
-
Barthez-Carpentier, M.A., C. Billard, J. Maheut, J.J. Santini (1991) A case of childhood Kufs' disease. J Neurol Neurosurg Psychiatry 54: 655-657.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 655-657
-
-
Barthez-Carpentier, M.A.1
Billard, C.2
Maheut, J.3
Santini, J.J.4
-
2
-
-
0023892434
-
Kufs' disease: A critical reappraisal
-
Berkovic, S.F., S. Carpenter, F. Andermann, E. Andermann, L.S. Wolfe (1988) Kufs' disease: A critical reappraisal. Brain 111: 27-62.
-
(1988)
Brain
, vol.111
, pp. 27-62
-
-
Berkovic, S.F.1
Carpenter, S.2
Andermann, F.3
Andermann, E.4
Wolfe, L.S.5
-
3
-
-
0025562763
-
Formes psychiatriques et démentielles de la maladie de Kufs
-
Charles, N., A. Vighetto, J. Pialat, C. Confavreux, G. Aimard (1990) Formes psychiatriques et démentielles de la maladie de Kufs. Rev Neurol (Paris) 146: 752-756.
-
(1990)
Rev Neurol (Paris)
, vol.146
, pp. 752-756
-
-
Charles, N.1
Vighetto, A.2
Pialat, J.3
Confavreux, C.4
Aimard, G.5
-
4
-
-
0015970717
-
The fine structure of the retina in neuronal ceroid-lipofuscinosis
-
Goebel, H.H., J.D. Fix, W. Zeman (1974) The fine structure of the retina in neuronal ceroid-lipofuscinosis. Am J Ophthalmol 77: 25-39.
-
(1974)
Am J Ophthalmol
, vol.77
, pp. 25-39
-
-
Goebel, H.H.1
Fix, J.D.2
Zeman, W.3
-
5
-
-
0344262328
-
Diagnostic biopsy of extracerebral tissue in adult neuronal ceroid-lipofuscinosis
-
Goebel, H.H., M. Jaynes, L. Gutmann, S. Schochet (1997) Diagnostic biopsy of extracerebral tissue in adult neuronal ceroid-lipofuscinosis (abstract). Neuropathol Appl Neurobiol 23: 167-168.
-
(1997)
Neuropathol Appl Neurobiol
, vol.23
, pp. 167-168
-
-
Goebel, H.H.1
Jaynes, M.2
Gutmann, L.3
Schochet, S.4
-
6
-
-
0023928225
-
Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis
-
Goebel, H.H., H. Klein, P. Santavuori, K. Sainio (1988) Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis. Retina 8: 59-67.
-
(1988)
Retina
, vol.8
, pp. 59-67
-
-
Goebel, H.H.1
Klein, H.2
Santavuori, P.3
Sainio, K.4
-
7
-
-
0017200656
-
The protracted form of juvenile neuronal ceroid-lipofuscinosis
-
Goebel, H.H., H. Pilz, F. Gullotta (1976) The protracted form of juvenile neuronal ceroid-lipofuscinosis. Acta Neuropathol (Berl) 36: 393-396.
-
(1976)
Acta Neuropathol (Berl)
, vol.36
, pp. 393-396
-
-
Goebel, H.H.1
Pilz, H.2
Gullotta, F.3
-
8
-
-
0017364454
-
An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis
-
Goebel, H.H., W. Zeman, E. Damaske (1977) An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis. Am J Ophthalmol 83: 70-79.
-
(1977)
Am J Ophthalmol
, vol.83
, pp. 70-79
-
-
Goebel, H.H.1
Zeman, W.2
Damaske, E.3
-
9
-
-
0023779529
-
Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes
-
Gottlob, I., K.O. Leipert, A. Kohlschütter, H.H. Goebel (1988) Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes. Graefes Arch Clin Exp Ophthalmol 226: 516-521.
-
(1988)
Graefes Arch Clin Exp Ophthalmol
, vol.226
, pp. 516-521
-
-
Gottlob, I.1
Leipert, K.O.2
Kohlschütter, A.3
Goebel, H.H.4
-
10
-
-
0021678363
-
Adult type of neuronal-ceroid-Iipofuscinosis with retinal involvement
-
Ikeda, K., K. Kosaka, S. Oyanagi, K. Yamada (1984) Adult type of neuronal-ceroid-Iipofuscinosis with retinal involvement. Clin Neuropathol 3: 237-239.
-
(1984)
Clin Neuropathol
, vol.3
, pp. 237-239
-
-
Ikeda, K.1
Kosaka, K.2
Oyanagi, S.3
Yamada, K.4
-
11
-
-
51849173016
-
Über eine Spätform der amaurotischen Idiotie und ihre heredofamiliären Grundlagen
-
Kufs, H. ( 1925) Über eine Spätform der amaurotischen Idiotie und ihre heredofamiliären Grundlagen. Z Ges Neurol Psychiatr 25: 169-188.
-
(1925)
Z Ges Neurol Psychiatr
, vol.25
, pp. 169-188
-
-
Kufs, H.1
-
12
-
-
52449144179
-
Über die Bedeutung der optischen Komponente der amaurotischen Idiotie in diagnostischer und erbbiologischer Beziehung und über die Existenz 'spätester' Fälle bei dieser Krankheit
-
Kufs, H. (1927) Über die Bedeutung der optischen Komponente der amaurotischen Idiotie in diagnostischer und erbbiologischer Beziehung und über die Existenz 'spätester' Fälle bei dieser Krankheit. Z Ges Neurol Psychiatr 709: 453-187.
-
(1927)
Z Ges Neurol Psychiatr
, vol.709
, pp. 453-1187
-
-
Kufs, H.1
-
13
-
-
0007232639
-
Über einen Fall von Spätform der amaurotischen Idiotie mit atypischem Verlauf und mit terminalen schweren Störungen des Fettstoffwechsels im Gesamtorganismus
-
Kufs, H. (1929) Über einen Fall von Spätform der amaurotischen Idiotie mit atypischem Verlauf und mit terminalen schweren Störungen des Fettstoffwechsels im Gesamtorganismus. Z Ges Neurol Psychiatr 722: 395-415.
-
(1929)
Z Ges Neurol Psychiatr
, vol.722
, pp. 395-415
-
-
Kufs, H.1
-
14
-
-
0023506121
-
Ultrastructure of brain and retina in Kufs' disease (adult type-ceroid-lipofuscinosis)
-
Martin, J.J., J. Libert, C. Ceuterick (1987) Ultrastructure of brain and retina in Kufs' disease (adult type-ceroid-lipofuscinosis). Clin Neuropathol 6: 231-235.
-
(1987)
Clin Neuropathol
, vol.6
, pp. 231-235
-
-
Martin, J.J.1
Libert, J.2
Ceuterick, C.3
-
15
-
-
58149352356
-
Middle age onset of cerebral lipofuscinosis associated with retinitis pigmentosa
-
McKelvie, P., L. Roberts, E. Byrne (1997) Middle age onset of cerebral lipofuscinosis associated with retinitis pigmentosa (abstract W1.2.03). Brain Pathol 7: 1062.
-
(1997)
Brain Pathol
, vol.7
, pp. 1062
-
-
McKelvie, P.1
Roberts, L.2
Byrne, E.3
-
16
-
-
8544278145
-
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits
-
O'Rawe, A., H.M. Mitchison, R. Williams, R. Wheeler, E. Andermann, F. Andermann, Y.M. Hart, J.-J. Martin, M. Philippart, J.B.P. Stephenson, R.M. Gardiner, S.E. Mole (1997) Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics 25: 21-22.
-
(1997)
Neuropediatrics
, vol.25
, pp. 21-22
-
-
O'Rawe, A.1
Mitchison, H.M.2
Williams, R.3
Wheeler, R.4
Andermann, E.5
Andermann, F.6
Hart, Y.M.7
Martin, J.-J.8
Philippart, M.9
Stephenson, J.B.P.10
Gardiner, R.M.11
Mole, S.E.12
-
17
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosome 11p15 and 15q21-23
-
Sharp, J.D., R.B. Wheeler, B.D. Lake, M. Savukoski, I.E. Järvelä, L. Peltonen, R.M. Gardiner, R.E. Williams (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosome 11p15 and 15q21-23. Hum Mol Genet 6: 591-595.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 591-595
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
Savukoski, M.4
Järvelä, I.E.5
Peltonen, L.6
Gardiner, R.M.7
Williams, R.E.8
-
18
-
-
0020376232
-
Adult ceroid-lipofuscinosis: Diagnostic value of biopsies and of neurophysiological investigations
-
Vercruyssen, A., J.J. Martin, C. Ceuterick, K. Jakobs, L. Swerts (1982) Adult ceroid-lipofuscinosis: Diagnostic value of biopsies and of neurophysiological investigations. J Neurol Neurosurg Psychiatry 45: 1056-1059.
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 1056-1059
-
-
Vercruyssen, A.1
Martin, J.J.2
Ceuterick, C.3
Jakobs, K.4
Swerts, L.5
-
19
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa, J., E. Hellsten, L.A. Verkruyse, L.A. Camp, J. Rapola, P. Santavuori, S.L. Hofmann, L. Peltonen (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376: 584-587.
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
Camp, L.A.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.L.7
Peltonen, L.8
-
20
-
-
0343246480
-
A novel granular variant (GROD) form of late infantile neuronal ceroid lipofuscinosis (CLN2) is an infantile form of NCL (CLN1) when biochemically studied
-
Wisniewski, K.E., C.R. Becerra, S.L. Hofmann (1997). A novel granular variant (GROD) form of late infantile neuronal ceroid lipofuscinosis (CLN2) is an infantile form of NCL (CLN1) when biochemically studied (abstract). J Neuropathol Exp Neurol 50: 594.
-
(1997)
J Neuropathol Exp Neurol
, vol.50
, pp. 594
-
-
Wisniewski, K.E.1
Becerra, C.R.2
Hofmann, S.L.3
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