-
1
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993:72;971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
2
-
-
33845381075
-
Mutant huntingtin impairs the post-Golgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism
-
del Toro D, Canals JM, Gines S, et al. Mutant huntingtin impairs the post-Golgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism. J Neurosci 2006:26;12748-12757
-
(2006)
J Neurosci
, vol.26
, pp. 12748-12757
-
-
Del Toro, D.1
Canals, J.M.2
Gines, S.3
-
3
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier Y, Lutz Y, Stevanin G, et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995:378;403-406
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
-
4
-
-
25844482890
-
Genetic counselling and presymptomatic testing
-
Bates G, Harper P, Jones L, eds. Oxford, UK: Oxford University Press
-
Tibben A. Genetic counselling and presymptomatic testing. In: Bates G, Harper P, Jones L, eds. Huntington's Disease. Oxford, UK: Oxford University Press, 2002:198-248
-
(2002)
Huntington's Disease
, pp. 198-248
-
-
Tibben, A.1
-
5
-
-
33846197644
-
The cell biology of Huntington's disease
-
Bates G, Harper P, Jones L eds. Oxford, UK: Oxford University Press
-
Jones L. The cell biology of Huntington's disease. In: Bates G, Harper P, Jones L eds. Huntington's Disease. Oxford, UK: Oxford University Press, 2002:348-386
-
(2002)
Huntington's Disease
, pp. 348-386
-
-
Jones, L.1
-
6
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia M, Sapp E, Chase KO, et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997:277;1990-1993
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
Difiglia, M.1
Sapp, E.2
Chase, K.O.3
-
7
-
-
0030771894
-
Huntingtin localization in brains of normal and Huntington's disease patients
-
Sapp E, Schwarz C, Chase K, et al. Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol 1997:42; 604-612
-
(1997)
Ann Neurol
, vol.42
, pp. 604-612
-
-
Sapp, E.1
Schwarz, C.2
Chase, K.3
-
8
-
-
0031918640
-
Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length
-
Becher MW, Kotzuk JA, Sharp AH, et al. Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol Dis 1998:4;387-397
-
(1998)
Neurobiol Dis
, vol.4
, pp. 387-397
-
-
Becher, M.W.1
Kotzuk, J.A.2
Sharp, A.H.3
-
9
-
-
0032102186
-
Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset
-
Gourfinkel-An I, Cancel G, Duyckaerts C, et al. Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset. Neuroreport 1998:9;1823-1826
-
(1998)
Neuroreport
, vol.9
, pp. 1823-1826
-
-
Gourfinkel-An, I.1
Cancel, G.2
Duyckaerts, C.3
-
10
-
-
0033119123
-
Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology
-
Gutekunst CA, Li SH, Yi H, et al. Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology. J Neurosci 1999: 19;2522-2534
-
(1999)
J Neurosci
, vol.19
, pp. 2522-2534
-
-
Gutekunst, C.A.1
Li, S.H.2
Yi, H.3
-
11
-
-
0033025958
-
Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain
-
Maat-Schieman ML, Dorsman JC, Smoor MA, et al. Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain. J Neuropathol Exp Neurol 1999:58;129-137
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 129-137
-
-
Maat-Schieman, M.L.1
Dorsman, J.C.2
Smoor, M.A.3
-
12
-
-
0033037919
-
Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein
-
Sieradzan KA, Mechan AO, Jones L, et al. Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein. Exp Neurol 1999:156;92-99
-
(1999)
Exp Neurol
, vol.156
, pp. 92-99
-
-
Sieradzan, K.A.1
Mechan, A.O.2
Jones, L.3
-
13
-
-
0036671821
-
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions
-
Lunkes A, Lindenberg K, Ben-Haiem L, et al. Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell 2002:10;259-269
-
(2002)
Mol Cell
, vol.10
, pp. 259-269
-
-
Lunkes, A.1
Lindenberg, K.2
Ben-Haiem, L.3
-
14
-
-
12244300919
-
Insoluble TATA-binding protein accumulation in Huntington's disease cortex
-
van Roon-Mom MCW, Reid SJ, Jones AL, et al. Insoluble TATA-binding protein accumulation in Huntington's disease cortex. Mol Brain Res 2002:109;1-10
-
(2002)
Mol Brain Res
, vol.109
, pp. 1-10
-
-
Van Roon-Mom, M.C.W.1
Reid, S.J.2
Jones, A.L.3
-
15
-
-
33646371979
-
Aggregate distribution in frontal and motor cortex in Huntington's disease brain
-
van Roon-Mom MCW, Hogg VM, Tippett LJ, et al. Aggregate distribution in frontal and motor cortex in Huntington's disease brain. Neuroreport 2006:17;667-670
-
(2006)
Neuroreport
, vol.17
, pp. 667-670
-
-
Van Roon-Mom, M.C.W.1
Hogg, V.M.2
Tippett, L.J.3
-
16
-
-
33847233319
-
Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease
-
Maat-Schieman M, Roos R, Losekoot M, et al. Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease. Brain Pathol 2007:17;31-37
-
(2007)
Brain Pathol
, vol.17
, pp. 31-37
-
-
Maat-Schieman, M.1
Roos, R.2
Losekoot, M.3
-
17
-
-
34147179928
-
Characterization of huntingtin pathologic fragments in human Huntington disease, transgenic mice, and cell models
-
Schilling G, Klevytska A, Tebbenkamp A, et al. Characterization of huntingtin pathologic fragments in human Huntington disease, transgenic mice, and cell models. J Neuropathol Exp Neurol 2007:66; 313-320
-
(2007)
J Neuropathol Exp Neurol
, vol.66
, pp. 313-320
-
-
Schilling, G.1
Klevytska, A.2
Tebbenkamp, A.3
-
19
-
-
41949137715
-
A comparison of Huntington disease and Huntington diseaseYlike 2 neuropathology
-
Rudnicki D, Pletnikova O, Vonsattel J-P, et al. A comparison of Huntington disease and Huntington diseaseYlike 2 neuropathology. J Neuropathol Exp Neurol 2008:67;366-374
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 366-374
-
-
Rudnicki, D.1
Pletnikova, O.2
Vonsattel, J.-P.3
-
20
-
-
33748904800
-
Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease
-
Mackenzie IR, Butland SL, Devon RS, et al. Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease. BMC Neurol 2006:6;1471-2377
-
(2006)
BMC Neurol
, vol.6
, pp. 1471-2377
-
-
MacKenzie, I.R.1
Butland, S.L.2
Devon, R.S.3
-
22
-
-
0037096832
-
Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells
-
Dorsman J, Pepers B, Langenberg D, et al. Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet 2002:11;1487-1496
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1487-1496
-
-
Dorsman, J.1
Pepers, B.2
Langenberg, D.3
-
23
-
-
85026135888
-
An aggregate-prone conformational epitope in trinucleotide repeat diseases
-
Sugaya K, Matsubara S, Miyamoto K, et al. An aggregate-prone conformational epitope in trinucleotide repeat diseases. Neuroreport 2003:14;2331-2335
-
(2003)
Neuroreport
, vol.14
, pp. 2331-2335
-
-
Sugaya, K.1
Matsubara, S.2
Miyamoto, K.3
-
24
-
-
0033769320
-
Structural characteristics of human substantia nigra neuromelanin and synthetic dopamine melanins
-
Double K, Zecca L, Cost P, et al. Structural characteristics of human substantia nigra neuromelanin and synthetic dopamine melanins. J Neurochem 2000:75;2583-2589
-
(2000)
J Neurochem
, vol.75
, pp. 2583-2589
-
-
Double, K.1
Zecca, L.2
Cost, P.3
-
25
-
-
34347242503
-
CAG-encoded polyglutamine length polymorphism in the human genome
-
Butland S, Devon R, Huang Y, et al. CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics 2007:8;126
-
(2007)
BMC Genomics
, vol.8
, pp. 126
-
-
Butland, S.1
Devon, R.2
Huang, Y.3
-
26
-
-
41949092490
-
Assessment of alphasynuclein pathology: A study of the BrainNet Europe Consortium
-
Alafuzoff I, Parkkinen L, Al-Sarraj S, et al. Assessment of alphasynuclein pathology: A study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol 2008:67;125-143
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 125-143
-
-
Alafuzoff, I.1
Parkkinen, L.2
Al-Sarraj, S.3
-
27
-
-
70349163038
-
Formic acid pretreatment enhances immunostaining of polyglutamine- containing inclusions in Huntington disease brains
-
White CL III, Hladik C, Stark J, et al. Formic acid pretreatment enhances immunostaining of polyglutamine-containing inclusions in Huntington disease brains. Brain Pathol 2006:16;S55
-
(2006)
Brain Pathol
, vol.16
-
-
White Cl, I.I.I.1
Hladik, C.2
Stark, J.3
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