-
1
-
-
0344622851
-
Clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia
-
Almer G, Hainfellner JA, Budka H, Brücke T. Clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia [abstract]. Eur J Neurol 1997; 4 Suppl 1: S1.
-
(1997)
Eur J Neurol
, vol.4
, Issue.1 SUPPL.
-
-
Almer, G.1
Hainfellner, J.A.2
Budka, H.3
Brücke, T.4
-
3
-
-
0012241580
-
A new austrian family with fatal familial insomnia: Brain pathology without detectable PrPres
-
Budka H, Hainfellner JA, Almer G, Brücke T, Windl O, Kretzschmar HA, et al. A new Austrian family with fatal familial insomnia: brain pathology without detectable PrPres [abstract]. Brain Pathol 1997; 7: 1267.
-
(1997)
Brain Pathol
, vol.7
, pp. 1267
-
-
Budka, H.1
Hainfellner, J.A.2
Almer, G.3
Brücke, T.4
Windl, O.5
Kretzschmar, H.A.6
-
4
-
-
0029831213
-
Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD
-
Collinge J, Sidle KC, Meads J. Ironside J, Hill AF. Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature 1996; 383: 685-90.
-
(1996)
Nature
, vol.383
, pp. 685-690
-
-
Collinge, J.1
Sidle, K.C.2
Meads, J.3
Ironside, J.4
Hill, A.F.5
-
5
-
-
0001238110
-
Prion diseases
-
Graham, DI, Lantos PL, editors. 6th ed. London: Arnold
-
DeArmond SJ, Prusiner SB. Prion diseases. In: Graham, DI, Lantos PL, editors. Greenfield's neuropathology, Vol. 2. 6th ed. London: Arnold; 1997. p. 235-80.
-
(1997)
Greenfield's Neuropathology
, vol.2
, pp. 235-280
-
-
DeArmond, S.J.1
Prusiner, S.B.2
-
6
-
-
0028835989
-
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Clinical, pathological and molecular features
-
Gambetti P. Parchi P, Petersen RB, Chen SG, Lugaresi E. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol 1995; 5: 43-51.
-
(1995)
Brain Pathol
, vol.5
, pp. 43-51
-
-
Gambetti, P.1
Parchi, P.2
Petersen, R.B.3
Chen, S.G.4
Lugaresi, E.5
-
7
-
-
0001094628
-
Enlargement of the inferior olivary nucleus in association with lesions of the central tegmental tract or dentate nucleus
-
Gautier JC, Blackwood W. Enlargement of the inferior olivary nucleus in association with lesions of the central tegmental tract or dentate nucleus. Brain 1961; 84, 341-61.
-
(1961)
Brain
, vol.84
, pp. 341-361
-
-
Gautier, J.C.1
Blackwood, W.2
-
8
-
-
0026496257
-
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined by a DNA polymorphism
-
Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992: 258: 806-8.
-
(1992)
Science
, vol.258
, pp. 806-808
-
-
Goldfarb, L.G.1
Petersen, R.B.2
Tabaton, M.3
Brown, P.4
LeBlanc, A.C.5
Montagna, P.6
-
9
-
-
0028814065
-
Prion protein accumulation in the spinal cords of patients with sporadic and growth hormone associated Creutzfeldt-Jakob disease
-
Goodbrand IA, Ironside JW, Nicolson D, Bell JE. Prion protein accumulation in the spinal cords of patients with sporadic and growth hormone associated Creutzfeldt-Jakob disease. Neurosci Lett 1995; 183: 127-30.
-
(1995)
Neurosci Lett
, vol.183
, pp. 127-130
-
-
Goodbrand, I.A.1
Ironside, J.W.2
Nicolson, D.3
Bell, J.E.4
-
10
-
-
0030929562
-
Distribution of parvalbumin-immunoreactive neurons in brain correlates with hippocampal and temporal cortical pathology in Creutzfeldt-Jakob disease
-
Guentchev M, Hainfellner JA, Trabattoni GR, Budka H. Distribution of parvalbumin-immunoreactive neurons in brain correlates with hippocampal and temporal cortical pathology in Creutzfeldt-Jakob disease. J Neuropathol Exp Neurol 1997; 56: 1119-24.
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, pp. 1119-1124
-
-
Guentchev, M.1
Hainfellner, J.A.2
Trabattoni, G.R.3
Budka, H.4
-
11
-
-
49749220574
-
Scrapie and kuru
-
Hadlow WJ. Scrapie and kuru. Lancet 1959; 2: 289-90.
-
(1959)
Lancet
, vol.2
, pp. 289-290
-
-
Hadlow, W.J.1
-
13
-
-
0028990981
-
The original Gerstmann-Sträussler-Scheinker family of Austria: Divergent clinicopathological phenotypes but constant PrP genotype
-
Hainfellner JA, Brantner-Inthaler S, Cervenakova L, Brown P, Kitamoto T. Tateishi J, et al. The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995; 5: 201-11.
-
(1995)
Brain Pathol
, vol.5
, pp. 201-211
-
-
Hainfellner, J.A.1
Brantner-Inthaler, S.2
Cervenakova, L.3
Brown, P.4
Kitamoto, T.5
Tateishi, J.6
-
14
-
-
0344191126
-
Fatal familial insomnia in a new Austrian family: Dissociation of brain pathology from PrP deposition
-
Hainfellner JA, Almer G, Brücke T, Jellinger K, Kleinert R, Bayer G, et al. Fatal familial insomnia in a new Austrian family: dissociation of brain pathology from PrP deposition [abstract], Clin Neuropathol 1997a; 16: 261.
-
(1997)
Clin Neuropathol
, vol.16
, pp. 261
-
-
Hainfellner, J.A.1
Almer, G.2
Brücke, T.3
Jellinger, K.4
Kleinert, R.5
Bayer, G.6
-
15
-
-
0031053453
-
Pathology and immunocytochemistry of a kuru brain
-
Hainfellner JA, Liberski PP, Guiroy DC, Cervenàkovà L, Brown P, Gajdusek DC, et al. Pathology and immunocytochemistry of a kuru brain. Brain Pathol 1997b; 7: 547-53.
-
(1997)
Brain Pathol
, vol.7
, pp. 547-553
-
-
Hainfellner, J.A.1
Liberski, P.P.2
Guiroy, D.C.3
Cervenàkovà, L.4
Brown, P.5
Gajdusek, D.C.6
-
17
-
-
0022477981
-
Molecular cloning of a human prion protein cDNA
-
Kretzschmar HA, Stowring LE, Westaway D, Stubblebine WH. Prusiner SB, DeArmond SJ. Molecular cloning of a human prion protein cDNA. DNA 1986; 5: 315-24.
-
(1986)
DNA
, vol.5
, pp. 315-324
-
-
Kretzschmar, H.A.1
Stowring, L.E.2
Westaway, D.3
Stubblebine, W.H.4
Prusiner, S.B.5
DeArmond, S.J.6
-
18
-
-
0022447484
-
Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei
-
Lugaresi E, Medori R, Montagna P, Baruzzi A, Cortelli P, Lugaresi A, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med 1986;315: 997-1003.
-
(1986)
N Engl J Med
, vol.315
, pp. 997-1003
-
-
Lugaresi, E.1
Medori, R.2
Montagna, P.3
Baruzzi, A.4
Cortelli, P.5
Lugaresi, A.6
-
19
-
-
0026563279
-
Fatal familial insomnia: Clinical and pathologic study of five new cases
-
Manetto V, Medori R, Cortelli P, Montagna P, Tinuper P, Baruzzi A, et al. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology 1992; 42: 312-9.
-
(1992)
Neurology
, vol.42
, pp. 312-319
-
-
Manetto, V.1
Medori, R.2
Cortelli, P.3
Montagna, P.4
Tinuper, P.5
Baruzzi, A.6
-
20
-
-
0030821246
-
The D178N (cis-129M) 'fatal familial insomnia' mutation associated with diverse clinicopathologic phenotypes in an Australian kindred
-
McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenakova L, Brown P. The D178N (cis-129M) 'fatal familial insomnia' mutation associated with diverse clinicopathologic phenotypes in an Australian kindred. Neurology 1997; 49: 552-8.
-
(1997)
Neurology
, vol.49
, pp. 552-558
-
-
McLean, C.A.1
Storey, E.2
Gardner, R.J.3
Tannenberg, A.E.4
Cervenakova, L.5
Brown, P.6
-
21
-
-
0026690906
-
Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178
-
Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper P, et al. Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology 1992a; 42: 669-70.
-
(1992)
Neurology
, vol.42
, pp. 669-670
-
-
Medori, R.1
Montagna, P.2
Tritschler, H.J.3
LeBlanc, A.4
Cortelli, P.5
Tinuper, P.6
-
22
-
-
0026552043
-
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene
-
Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 1992b; 326: 444-9.
-
(1992)
N Engl J Med
, vol.326
, pp. 444-449
-
-
Medori, R.1
Tritschler, H.J.2
LeBlanc, A.3
Villare, F.4
Manetto, V.5
Chen, H.Y.6
-
23
-
-
0029961971
-
Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: First report from Japan
-
Nagayama M, Shinohara Y, Furukawa H, Kitamoto T. Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan. Neurology 1996; 47: 1313-6.
-
(1996)
Neurology
, vol.47
, pp. 1313-1316
-
-
Nagayama, M.1
Shinohara, Y.2
Furukawa, H.3
Kitamoto, T.4
-
24
-
-
0028946529
-
Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene
-
Nicholl D, Windl O, de Silva R, Sawcer S, Dempster M, Ironside JW, et al. Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene. J Neurol Neurosurg Psychiatry 1995; 58: 65-9.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 65-69
-
-
Nicholl, D.1
Windl, O.2
De Silva, R.3
Sawcer, S.4
Dempster, M.5
Ironside, J.W.6
-
25
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-70.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
26
-
-
0029042656
-
Regional distribution of protease-resistant prion protein in fatal familial insomnia
-
Parchi P, Castellani R, Cortelli P, Montagna P, Chen SG, Petersen RB, et al. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann Neurol 1995; 38: 21-9.
-
(1995)
Ann Neurol
, vol.38
, pp. 21-29
-
-
Parchi, P.1
Castellani, R.2
Cortelli, P.3
Montagna, P.4
Chen, S.G.5
Petersen, R.B.6
-
27
-
-
0029031422
-
Clinical and genetic studies of fatal familial insomnia
-
Reder AT, Mednick AS, Brown P, Spire JP, Van Cauter E, Wollmann RL, et al. Clinical and genetic studies of fatal familial insomnia. Neurology 1995; 45: 1068-75.
-
(1995)
Neurology
, vol.45
, pp. 1068-1075
-
-
Reder, A.T.1
Mednick, A.S.2
Brown, P.3
Spire, J.P.4
Van Cauter, E.5
Wollmann, R.L.6
-
28
-
-
0031918782
-
Fatal familial insomnia: Genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred
-
Rossi G, Macchi G, Porro M, Giaccone G, Bugiani M, Scarpini E, et al. Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. Neurology 1998; 50: 688-92.
-
(1998)
Neurology
, vol.50
, pp. 688-692
-
-
Rossi, G.1
Macchi, G.2
Porro, M.3
Giaccone, G.4
Bugiani, M.5
Scarpini, E.6
-
30
-
-
0029854307
-
Fatal familial insomnia: A seventh family
-
Silburn P, Cervenakova L, Varghese P, Tannenberg A, Brown P, Boyle R. Fatal familial insomnia: a seventh family. Neurology 1996; 47: 1326-8.
-
(1996)
Neurology
, vol.47
, pp. 1326-1328
-
-
Silburn, P.1
Cervenakova, L.2
Varghese, P.3
Tannenberg, A.4
Brown, P.5
Boyle, R.6
-
31
-
-
0028809091
-
The neuropathology and epidemiology of bovine spongiform encephalopathy
-
Wells GA, Wilesmith JW. The neuropathology and epidemiology of bovine spongiform encephalopathy. Brain Pathol 1995; 5: 91-103.
-
(1995)
Brain Pathol
, vol.5
, pp. 91-103
-
-
Wells, G.A.1
Wilesmith, J.W.2
-
32
-
-
0028802150
-
Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion protein
-
Whittington MA, Sidle KC, Gowland I, Meads J, Hill AF, Palmer MS, et al. Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion protein. Nat Genet 1995; 9: 197-201.
-
(1995)
Nat Genet
, vol.9
, pp. 197-201
-
-
Whittington, M.A.1
Sidle, K.C.2
Gowland, I.3
Meads, J.4
Hill, A.F.5
Palmer, M.S.6
-
33
-
-
2442735162
-
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: A systematic analysis of predisposing mutations and allelic variation in the PRNP gene
-
Windl O, Dempster M, Estibeiro JP, Lathe R, de Silva R, Esmonde T, et al. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. Hum Genet 1996; 98: 259-64.
-
(1996)
Hum Genet
, vol.98
, pp. 259-264
-
-
Windl, O.1
Dempster, M.2
Estibeiro, J.P.3
Lathe, R.4
De Silva, R.5
Esmonde, T.6
|