-
3
-
-
0029054937
-
The N-terminal domain of a glycolipid-anchored prion protein is essential for its endocytosis via clathrin-coated pits
-
Shyng SL, Moulder KL, Lesko A, Harris DA. The N-terminal domain of a glycolipid-anchored prion protein is essential for its endocytosis via clathrin-coated pits. J Biol Chem 1995;270: 14793-14800.
-
(1995)
J Biol Chem
, vol.270
, pp. 14793-14800
-
-
Shyng, S.L.1
Moulder, K.L.2
Lesko, A.3
Harris, D.A.4
-
4
-
-
0025055393
-
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease
-
Owen F, Poulter M, Shah T, et al. An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Mol Brain Res 1990;7:273-276.
-
(1990)
Mol Brain Res
, vol.7
, pp. 273-276
-
-
Owen, F.1
Poulter, M.2
Shah, T.3
-
5
-
-
0025806693
-
Insertions in the prion protein gene in atypical dementias
-
Owen F, Poulter M, Collinge J, et al. Insertions in the prion protein gene in atypical dementias. Exp Neurol 1991;112:240-242.
-
(1991)
Exp Neurol
, vol.112
, pp. 240-242
-
-
Owen, F.1
Poulter, M.2
Collinge, J.3
-
6
-
-
0025885702
-
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven and eight extra octapeptide coding repeats in the PRNP gene
-
Goldfarb LG, Brown P, McCombie WR, et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 1991;88:10926-10930.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10926-10930
-
-
Goldfarb, L.G.1
Brown, P.2
McCombie, W.R.3
-
7
-
-
0026606082
-
Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene
-
Brown P, Goldfarb LG, McCombie WR, et al. Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. Neurology 1992;42:422-427.
-
(1992)
Neurology
, vol.42
, pp. 422-427
-
-
Brown, P.1
Goldfarb, L.G.2
McCombie, W.R.3
-
8
-
-
0026513044
-
A dementing illness associated with a novel insertion in the prion protein gene
-
Owen F, Poulter M, Collinge J, et al. A dementing illness associated with a novel insertion in the prion protein gene. Mol Brain Res 1992;13:155-157.
-
(1992)
Mol Brain Res
, vol.13
, pp. 155-157
-
-
Owen, F.1
Poulter, M.2
Collinge, J.3
-
9
-
-
0026636605
-
Inherited prion disease with 144 base pair gene insertion
-
Poulter M, Baker HF, Frith CD, et al. Inherited prion disease with 144 base pair gene insertion. Brain 1992;115:675-685.
-
(1992)
Brain
, vol.115
, pp. 675-685
-
-
Poulter, M.1
Baker, H.F.2
Frith, C.D.3
-
10
-
-
0026650443
-
Inherited prion disease with 144 base pair gene insertion
-
Collinge J, Brown J, Hardy J, et al. Inherited prion disease with 144 base pair gene insertion. Brain 1992;115:687-710.
-
(1992)
Brain
, vol.115
, pp. 687-710
-
-
Collinge, J.1
Brown, J.2
Hardy, J.3
-
11
-
-
0027258807
-
Dementia associated with a 216 base pair insertion in the prion protein gene
-
Duchen LW, Poulter M, Harding AE. Dementia associated with a 216 base pair insertion in the prion protein gene. Brain 1993;116:555-567.
-
(1993)
Brain
, vol.116
, pp. 555-567
-
-
Duchen, L.W.1
Poulter, M.2
Harding, A.E.3
-
12
-
-
0027363964
-
A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease
-
Goldfarb LG, Brown P, Little BW, et al. A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease. Neurology 1993;43:2392-2394.
-
(1993)
Neurology
, vol.43
, pp. 2392-2394
-
-
Goldfarb, L.G.1
Brown, P.2
Little, B.W.3
-
13
-
-
0029026751
-
Two novel insertions in the prion protein gene in patients with late-onset dementia
-
Laplanche J, Delasnerie-Laupretre N, Brandel JP, Dussaucy M, Launay JM. Two novel insertions in the prion protein gene in patients with late-onset dementia. Hum Mol Genet 1995;4: 1109-1111.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1109-1111
-
-
Laplanche, J.1
Delasnerie-Laupretre, N.2
Brandel, J.P.3
Dussaucy, M.4
Launay, J.M.5
-
14
-
-
0029004216
-
Prion disease with 144 base pair insertion in a Japanese family line
-
Berl
-
Oda T, Kitamoto T, Tateishi J, et al. Prion disease with 144 base pair insertion in a Japanese family line. Acta Neuropathol (Berl) 1995;90:80-86.
-
(1995)
Acta Neuropathol
, vol.90
, pp. 80-86
-
-
Oda, T.1
Kitamoto, T.2
Tateishi, J.3
-
15
-
-
0028820863
-
Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene
-
Krasemann S, Zerr I, Weber T, et al. Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. Mol Brain Res 1995;34:173-176.
-
(1995)
Mol Brain Res
, vol.34
, pp. 173-176
-
-
Krasemann, S.1
Zerr, I.2
Weber, T.3
-
16
-
-
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, 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;58:65-69.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 65-69
-
-
Nicholl, D.1
Windl, O.2
De Silva, R.3
-
17
-
-
0029598460
-
Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene
-
van Gool WA, Hensels GW, Hoogerwaard EM, Wiezer JHA, Wesseling P, Bolhuis PA. Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene. Brain 1995;118:1565-1571.
-
(1995)
Brain
, vol.118
, pp. 1565-1571
-
-
Van Gool, W.A.1
Hensels, G.W.2
Hoogerwaard, E.M.3
Wiezer, J.H.A.4
Wesseling, P.5
Bolhuis, P.A.6
-
18
-
-
0029874720
-
A prion disease with a novel 96-base pair insertional mutation in the prion protein gene
-
Campbell TA, Palmer MS, Will RG, Gibb WRG, Luthert PJ, Collinge J. A prion disease with a novel 96-base pair insertional mutation in the prion protein gene. Neurology 1996;46: 761-766.
-
(1996)
Neurology
, vol.46
, pp. 761-766
-
-
Campbell, T.A.1
Palmer, M.S.2
Will, R.G.3
Gibb, W.4
Luthert, P.J.5
Collinge, J.6
-
19
-
-
0029335221
-
Insert mutation in Creutzfeldt-Jakob disease
-
Kenney K, Brown P, Little BW. Insert mutation in Creutzfeldt-Jakob disease [letter]. Neurology 1995;45:1428.
-
(1995)
Neurology
, vol.45
, pp. 1428
-
-
Kenney, K.1
Brown, P.2
Little, B.W.3
-
20
-
-
0029042656
-
Regional distribution of protease-resistant prion protein in fatal familial insomnia
-
Parchi P, Castellani R, Cortelli P, et al. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann Neurol 1995;38:21-29.
-
(1995)
Ann Neurol
, vol.38
, pp. 21-29
-
-
Parchi, P.1
Castellani, R.2
Cortelli, P.3
-
21
-
-
0023499868
-
Mouse polyclonal and monoclonal antibody to scrapie associated fibril proteins
-
Kascsak RJ, Rubenstein R, Merz PA, et al. Mouse polyclonal and monoclonal antibody to scrapie associated fibril proteins. J Virol 1987;61:3688-3693.
-
(1987)
J Virol
, vol.61
, pp. 3688-3693
-
-
Kascsak, R.J.1
Rubenstein, R.2
Merz, P.A.3
-
22
-
-
0026751775
-
Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease
-
Kitamoto T, Shin RW, Doh-ura K, et al. Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease. Am J Pathol 1992;140:1285-1294.
-
(1992)
Am J Pathol
, vol.140
, pp. 1285-1294
-
-
Kitamoto, T.1
Shin, R.W.2
Doh-ura, K.3
-
23
-
-
0029064004
-
Familial progressive subcortical gliosis: Presence of prions and linkage to chromosome 17
-
Petersen RB, Tabaton M, Chen SG, et al. Familial progressive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology 1995;45:1062-1067.
-
(1995)
Neurology
, vol.45
, pp. 1062-1067
-
-
Petersen, R.B.1
Tabaton, M.2
Chen, S.G.3
-
24
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
-
25
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
26
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
-
27
-
-
23444458594
-
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
-
Pegoraro E, Schimke RN, Arahata K, et al. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994;54:989-1003.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 989-1003
-
-
Pegoraro, E.1
Schimke, R.N.2
Arahata, K.3
-
28
-
-
8944259890
-
Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease
-
Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996;39:767-778.
-
(1996)
Ann Neurol
, vol.39
, pp. 767-778
-
-
Parchi, P.1
Castellani, R.2
Capellari, S.3
-
29
-
-
0026496257
-
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined by a DNa polymorphism
-
Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992; 258:806-808.
-
(1992)
Science
, vol.258
, pp. 806-808
-
-
Goldfarb, L.G.1
Petersen, R.B.2
Tabaton, M.3
-
30
-
-
0025865455
-
Amino acid polymorphism in human prion protein and age at death in inherited prion diseases
-
Baker HF, Poulter M, Crow TJ, et al. Amino acid polymorphism in human prion protein and age at death in inherited prion diseases [letter]. Lancet 1991;337:1286.
-
(1991)
Lancet
, vol.337
, pp. 1286
-
-
Baker, H.F.1
Poulter, M.2
Crow, T.J.3
-
31
-
-
0028351904
-
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Different prion proteins determined by a DNa polymorphism
-
Monari L, Chen SG, Brown P, Parchi P, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci USA 1994;91:2839-2842.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 2839-2842
-
-
Monari, L.1
Chen, S.G.2
Brown, P.3
Parchi, P.4
-
32
-
-
0029921128
-
The expanding world of trinucleotide repeats
-
Warren ST. The expanding world of trinucleotide repeats. Science 1996;271:1374-1375.
-
(1996)
Science
, vol.271
, pp. 1374-1375
-
-
Warren, S.T.1
-
33
-
-
0029794281
-
Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation
-
Cochran EJ, Bennett DA, Cervenákova L. Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. Neurology 1996;47:727-733.
-
(1996)
Neurology
, vol.47
, pp. 727-733
-
-
Cochran, E.J.1
Bennett, D.A.2
Cervenákova, L.3
|