-
1
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004; 36: 377-381.
-
(2004)
Nat Genet
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
Wymer, J.2
Kovach, M.J.3
-
2
-
-
1642309633
-
Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions
-
Wang Q, Song C, Li CC. Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions. J Struct Biol 2004; 146: 44-57.
-
(2004)
J Struct Biol
, vol.146
, pp. 44-57
-
-
Wang, Q.1
Song, C.2
Li, C.C.3
-
3
-
-
74049124412
-
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
-
Ju JS, Fuentealba RA, Miller SE, et al. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol 2009; 187: 875-888.
-
(2009)
J Cell Biol
, vol.187
, pp. 875-888
-
-
Ju, J.S.1
Fuentealba, R.A.2
Miller, S.E.3
-
4
-
-
57049105123
-
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations
-
Mackenzie IR, Neumann M, Bigio EH, et al. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol 2009; 117: 15-18.
-
(2009)
Acta Neuropathol
, vol.117
, pp. 15-18
-
-
Mackenzie, I.R.1
Neumann, M.2
Bigio, E.H.3
-
5
-
-
33846815066
-
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations
-
Neumann M, Mackenzie IR, Cairns NJ, et al. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 2007; 66: 152-157.
-
(2007)
J Neuropathol Exp Neurol
, vol.66
, pp. 152-157
-
-
Neumann, M.1
Mackenzie, I.R.2
Cairns, N.J.3
-
6
-
-
34547663747
-
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
-
Cairns NJ, Neumann M, Bigio EH, et al. TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 2007; 171: 227-240.
-
(2007)
Am J Pathol
, vol.171
, pp. 227-240
-
-
Cairns, N.J.1
Neumann, M.2
Bigio, E.H.3
-
7
-
-
79956257399
-
Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis
-
Weihl CC. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr Alzheimer Res 2011; 8: 252-260.
-
(2011)
Curr Alzheimer Res
, vol.8
, pp. 252-260
-
-
Weihl, C.C.1
-
8
-
-
80855123678
-
The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis
-
Nalbandian A, Donkervoort S, Dec E, et al. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol Neurosci 2011; 45: 522-531.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 522-531
-
-
Nalbandian, A.1
Donkervoort, S.2
Dec, E.3
-
9
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010; 68: 857-864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
-
10
-
-
56449111307
-
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder
-
Kimonis VE, Fulchiero E, Vesa J, Watts G. VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta 2008; 1782: 744-748.
-
(2008)
Biochim Biophys Acta
, vol.1782
, pp. 744-748
-
-
Kimonis, V.E.1
Fulchiero, E.2
Vesa, J.3
Watts, G.4
-
11
-
-
84856958110
-
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
-
Koppers M, van Blitterswijk MM, Vlam L, et al. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 837.e7-837.e13.
-
(2012)
Neurobiol Aging
, vol.33
-
-
Koppers, M.1
van Blitterswijk, M.M.2
Vlam, L.3
-
12
-
-
80155141546
-
Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS
-
DeJesus-Hernandez M, Desaro P, Johnston A, et al. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology 2011; 77: 1102-1103.
-
(2011)
Neurology
, vol.77
, pp. 1102-1103
-
-
DeJesus-Hernandez, M.1
Desaro, P.2
Johnston, A.3
-
13
-
-
56449085566
-
Frontotemporal dementia associated with a valosin-containing protein mutation: report of three cases
-
Meeting Abstract Supplement): 58.4.20.
-
Spina S, Van Laar AD, Murrell JR, et al. Frontotemporal dementia associated with a valosin-containing protein mutation: report of three cases. FASEB J. 2008; 22: (Meeting Abstract Supplement): 58.4.20.
-
(2008)
FASEB J.
, vol.22
-
-
Spina, S.1
Van Laar, A.D.2
Murrell, J.R.3
-
14
-
-
84655167574
-
Valosin-containing protein mutation and Parkinson's disease
-
Chan N, Le C, Shieh P, et al. Valosin-containing protein mutation and Parkinson's disease. Parkinsonism Relat Disord 2012; 18: 107-109.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. 107-109
-
-
Chan, N.1
Le, C.2
Shieh, P.3
-
15
-
-
40449133507
-
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
-
Kimonis VE, Mehta SG, Fulchiero EC, et al. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A 2008; 146A: 745-757.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 745-757
-
-
Kimonis, V.E.1
Mehta, S.G.2
Fulchiero, E.C.3
-
16
-
-
33646771829
-
Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family
-
Pirici D, Vandenberghe R, Rademakers R, et al. Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family. J Neuropathol Exp Neurol 2006; 65: 289-301.
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 289-301
-
-
Pirici, D.1
Vandenberghe, R.2
Rademakers, R.3
-
17
-
-
69449108742
-
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
-
van der Zee J, Pirici D, Van Langenhove T, et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. Neurology 2009; 73: 626-632.
-
(2009)
Neurology
, vol.73
, pp. 626-632
-
-
van der Zee, J.1
Pirici, D.2
Van Langenhove, T.3
-
19
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
20
-
-
0032937059
-
Diagnostic criteria for Parkinson disease
-
Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999; 56: 33-39.
-
(1999)
Arch Neurol
, vol.56
, pp. 33-39
-
-
Gelb, D.J.1
Oliver, E.2
Gilman, S.3
-
21
-
-
0034528319
-
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy
-
Takao M, Benson MD, Murrell JR, et al. Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. J Neuropathol Exp Neurol 2000; 59: 1070-1086.
-
(2000)
J Neuropathol Exp Neurol
, vol.59
, pp. 1070-1086
-
-
Takao, M.1
Benson, M.D.2
Murrell, J.R.3
-
22
-
-
0000787934
-
A-synuclein accumulation in Gerstmann-Straussler-Scheinker disease (GSS) with prion protein gene (PRNP) mutation F198S
-
Abstract).
-
Piccardo P, Mirra S, Young K, Gearing M, Dlouhy SR, Ghetti B. A-synuclein accumulation in Gerstmann-Straussler-Scheinker disease (GSS) with prion protein gene (PRNP) mutation F198S. Neurobiol Aging 1998; 19: S172 (Abstract).
-
(1998)
Neurobiol Aging
, vol.19
-
-
Piccardo, P.1
Mirra, S.2
Young, K.3
Gearing, M.4
Dlouhy, S.R.5
Ghetti, B.6
-
23
-
-
0025950987
-
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease
-
Murrell J, Farlow M, Ghetti B, Benson MD. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991; 254: 97-99.
-
(1991)
Science
, vol.254
, pp. 97-99
-
-
Murrell, J.1
Farlow, M.2
Ghetti, B.3
Benson, M.D.4
-
24
-
-
67349116397
-
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
-
Stojkovic T, Hammouda el H, Richard P, et al. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Neuromuscul Disord 2009; 19: 316-323.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 316-323
-
-
Stojkovic, T.1
Hammouda el, H.2
Richard, P.3
-
25
-
-
84857041474
-
Characterization of the Asian myopathy patients with VCP mutations
-
Shi Z, Hayashi YK, Mitsuhashi S, et al. Characterization of the Asian myopathy patients with VCP mutations. Eur J Neurol 2012; 19: 501-509.
-
(2012)
Eur J Neurol
, vol.19
, pp. 501-509
-
-
Shi, Z.1
Hayashi, Y.K.2
Mitsuhashi, S.3
-
26
-
-
62349132008
-
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation
-
Bersano A, Del Bo R, Lamperti C, et al. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging 2009; 30: 752-758.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 752-758
-
-
Bersano, A.1
Del Bo, R.2
Lamperti, C.3
-
27
-
-
0037333666
-
Staging of brain pathology related to sporadic Parkinson's disease
-
Braak H, Del Tredici K, Rub U, de Vos RA, Jansen Steur EN, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003; 24: 197-211.
-
(2003)
Neurobiol Aging
, vol.24
, pp. 197-211
-
-
Braak, H.1
Del Tredici, K.2
Rub, U.3
de Vos, R.A.4
Jansen Steur, E.N.5
Braak, E.6
-
28
-
-
33746693220
-
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations
-
Forman MS, Mackenzie IR, Cairns NJ, et al. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol 2006; 65: 571-581.
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 571-581
-
-
Forman, M.S.1
Mackenzie, I.R.2
Cairns, N.J.3
-
29
-
-
79960921216
-
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family
-
Palmio J, Sandell S, Suominen T, et al. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord 2011; 21: 551-555.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 551-555
-
-
Palmio, J.1
Sandell, S.2
Suominen, T.3
-
30
-
-
77953894192
-
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy
-
Ju JS, Weihl CC. Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. Hum Mol Genet 2010; 19: R38-R45.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Ju, J.S.1
Weihl, C.C.2
-
31
-
-
81355146761
-
Mutational analysis of the VCP gene in Parkinson's disease
-
Majounie E, Traynor BJ, Chio A, et al. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging 2012; 33: 209.e1-209.e2.
-
(2012)
Neurobiol Aging
, vol.33
-
-
Majounie, E.1
Traynor, B.J.2
Chio, A.3
-
32
-
-
0020349114
-
A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization
-
Tucker WS Jr, Hubbard WH, Stryker TD, et al. A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. Trans Assoc Am Physicians 1982; 95: 126-134.
-
(1982)
Trans Assoc Am Physicians
, vol.95
, pp. 126-134
-
-
Tucker Jr, W.S.1
Hubbard, W.H.2
Stryker, T.D.3
-
33
-
-
77952009753
-
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings
-
Kumar KR, Needham M, Mina K, et al. Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. Neuromuscul Disord 2010; 20: 330-334.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 330-334
-
-
Kumar, K.R.1
Needham, M.2
Mina, K.3
-
34
-
-
0029066685
-
The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: a clinicopathological study
-
Chaudhuri KR, Crump S, Al-Sarraj S, Anderson V, Cavanagh J, Leigh PN. The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: a clinicopathological study. J Neurol Sci 1995; 129(Suppl.): 11-12.
-
(1995)
J Neurol Sci
, vol.129
, Issue.SUPPL.
, pp. 11-12
-
-
Chaudhuri, K.R.1
Crump, S.2
Al-Sarraj, S.3
Anderson, V.4
Cavanagh, J.5
Leigh, P.N.6
-
35
-
-
18244381306
-
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
-
Kovach MJ, Waggoner B, Leal SM, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab 2001; 74: 458-475.
-
(2001)
Mol Genet Metab
, vol.74
, pp. 458-475
-
-
Kovach, M.J.1
Waggoner, B.2
Leal, S.M.3
-
36
-
-
79958699242
-
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family
-
Kim EJ, Park YE, Kim DS, et al. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. Arch Neurol 2011; 68: 787-796.
-
(2011)
Arch Neurol
, vol.68
, pp. 787-796
-
-
Kim, E.J.1
Park, Y.E.2
Kim, D.S.3
|