-
1
-
-
17944366749
-
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
-
Eisenberg I., Avidan N., Potikha T., Hochner H., Chen M., Olender T., Barash M., Shemesh M., Sadeh M., Grabov-Nardini G., Shmilevich I., Friedmann A., Karpati G., Bradley W.G., Baumbach L., Lancet D., Asher E.B., Beckmann J.S., Argov Z., and Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29 (2001) 83-87
-
(2001)
Nat. Genet.
, vol.29
, pp. 83-87
-
-
Eisenberg, I.1
Avidan, N.2
Potikha, T.3
Hochner, H.4
Chen, M.5
Olender, T.6
Barash, M.7
Shemesh, M.8
Sadeh, M.9
Grabov-Nardini, G.10
Shmilevich, I.11
Friedmann, A.12
Karpati, G.13
Bradley, W.G.14
Baumbach, L.15
Lancet, D.16
Asher, E.B.17
Beckmann, J.S.18
Argov, Z.19
Mitrani-Rosenbaum, S.20
more..
-
2
-
-
0036217154
-
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
-
Kayashima T., Matsuo H., Satoh A., Ohta T., Yoshiura K., Matsumoto N., Nakane Y., Niikawa N., and Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J. Hum. Genet. 47 (2002) 77-79
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 77-79
-
-
Kayashima, T.1
Matsuo, H.2
Satoh, A.3
Ohta, T.4
Yoshiura, K.5
Matsumoto, N.6
Nakane, Y.7
Niikawa, N.8
Kishino, T.9
-
3
-
-
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 M.J., Waggoner B., Leal S.M., Gelber D., Khardori R., Levenstien M.A., Shanks C.A., Gregg G., Al-Lozi M.T., Miller T., Rakowicz W., Lopate G., Florence J., Glosser G., Simmons Z., Morris J.C., Whyte M.P., Pestronk A., and Kimonis V.E. 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. 74 (2001) 458-475
-
(2001)
Mol. Genet. Metab.
, vol.74
, pp. 458-475
-
-
Kovach, M.J.1
Waggoner, B.2
Leal, S.M.3
Gelber, D.4
Khardori, R.5
Levenstien, M.A.6
Shanks, C.A.7
Gregg, G.8
Al-Lozi, M.T.9
Miller, T.10
Rakowicz, W.11
Lopate, G.12
Florence, J.13
Glosser, G.14
Simmons, Z.15
Morris, J.C.16
Whyte, M.P.17
Pestronk, A.18
Kimonis, V.E.19
-
4
-
-
0020349114
-
A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization
-
Tucker Jr. W.S., Hubbard W.H., Stryker T.D., Morgan S.W., Evans O.B., Freemon F.R., and Theil G.B. A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. Trans. Assoc. Am. Physicians 95 (1982) 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
Morgan, S.W.4
Evans, O.B.5
Freemon, F.R.6
Theil, G.B.7
-
5
-
-
0013926252
-
Paget's disease and muscular dystrophy. Report of an unusual association in one family
-
McBride T.I. Paget's disease and muscular dystrophy. Report of an unusual association in one family. Scott. Med. J. 11 (1966) 238-243
-
(1966)
Scott. Med. J.
, vol.11
, pp. 238-243
-
-
McBride, T.I.1
-
6
-
-
0001098764
-
Dystrophia myotonica associated with familial Paget's disease (osteitis deformans) with sarcomata
-
Caughey J.E., Gwynne J.F., and Jefferson N.R. Dystrophia myotonica associated with familial Paget's disease (osteitis deformans) with sarcomata. J. Bone Joint Surg. Br. 39-B (1957) 316-325
-
(1957)
J. Bone Joint Surg. Br.
, vol.39 -B
, pp. 316-325
-
-
Caughey, J.E.1
Gwynne, J.F.2
Jefferson, N.R.3
-
7
-
-
0034532113
-
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone
-
Kimonis V.E., Kovach M.J., Waggoner B., Leal S., Salam A., Rimer L., Davis K., Khardori R., and Gelber D. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet. Med. 2 (2000) 232-241
-
(2000)
Genet. Med.
, vol.2
, pp. 232-241
-
-
Kimonis, V.E.1
Kovach, M.J.2
Waggoner, B.3
Leal, S.4
Salam, A.5
Rimer, L.6
Davis, K.7
Khardori, R.8
Gelber, D.9
-
8
-
-
0030977392
-
Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants
-
Foster N.L., Wilhelmsen K., Sima A.A., Jones M.Z., D'Amato C.J., and Gilman S. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann. Neurol. 41 (1997) 706-715
-
(1997)
Ann. Neurol.
, vol.41
, pp. 706-715
-
-
Foster, N.L.1
Wilhelmsen, K.2
Sima, A.A.3
Jones, M.Z.4
D'Amato, C.J.5
Gilman, S.6
-
9
-
-
0034784189
-
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22
-
Rosso S.M., Kamphorst W., de Graaf B., Willemsen R., Ravid R., Niermeijer M.F., Spillantini M.G., Heutink P., and van Swieten J.C. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 124 (2001) 1948-1957
-
(2001)
Brain
, vol.124
, pp. 1948-1957
-
-
Rosso, S.M.1
Kamphorst, W.2
de Graaf, B.3
Willemsen, R.4
Ravid, R.5
Niermeijer, M.F.6
Spillantini, M.G.7
Heutink, P.8
van Swieten, J.C.9
-
10
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., Snowden J., Adamson J., Sadovnick A.D., Rollinson S., Cannon A., Dwosh E., Neary D., Melquist S., Richardson A., Dickson D., Berger Z., Eriksen J., Robinson T., Zehr C., Dickey C.A., Crook R., McGowan E., Mann D., Boeve B., Feldman H., and Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442 (2006) 916-919
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
11
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., Rademakers R., Vandenberghe R., Dermaut B., Martin J.J., van Duijn C., Peeters K., Sciot R., Santens P., De Pooter T., Mattheijssens M., Van den Broeck M., Cuijt I., Vennekens K., De Deyn P.P., Kumar-Singh S., and Van Broeckhoven C. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442 (2006) 920-924
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
van der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.J.10
van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
De Pooter, T.15
Mattheijssens, M.16
Van den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
12
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
Watts G.D., Wymer J., Kovach M.J., Mehta S.G., Mumm S., Darvish D., Pestronk A., Whyte M.P., and Kimonis V.E. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 36 (2004) 377-381
-
(2004)
Nat. Genet.
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
Wymer, J.2
Kovach, M.J.3
Mehta, S.G.4
Mumm, S.5
Darvish, D.6
Pestronk, A.7
Whyte, M.P.8
Kimonis, V.E.9
-
13
-
-
20044373638
-
Mutant valosin-containing protein causes a novel type of frontotemporal dementia
-
Schroder R., Watts G.D., Mehta S.G., Evert B.O., Broich P., Fliessbach K., Pauls K., Hans V.H., Kimonis V., and Thal D.R. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann. Neurol. 57 (2005) 457-461
-
(2005)
Ann. Neurol.
, vol.57
, pp. 457-461
-
-
Schroder, R.1
Watts, G.D.2
Mehta, S.G.3
Evert, B.O.4
Broich, P.5
Fliessbach, K.6
Pauls, K.7
Hans, V.H.8
Kimonis, V.9
Thal, D.R.10
-
14
-
-
33746926801
-
Valosin-containing protein gene mutations: clinical and neuropathologic features
-
Guyant-Marechal L., Laquerriere A., Duyckaerts C., Dumanchin C., Bou J., Dugny F., Le Ber I., Frebourg T., Hannequin D., and Campion D. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology 67 (2006) 644-651
-
(2006)
Neurology
, vol.67
, pp. 644-651
-
-
Guyant-Marechal, L.1
Laquerriere, A.2
Duyckaerts, C.3
Dumanchin, C.4
Bou, J.5
Dugny, F.6
Le Ber, I.7
Frebourg, T.8
Hannequin, D.9
Campion, D.10
-
15
-
-
27144483812
-
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene
-
Haubenberger D., Bittner R.E., Rauch-Shorny S., Zimprich F., Mannhalter C., Wagner L., Mineva I., Vass K., Auff E., and Zimprich A. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 65 (2005) 1304-1305
-
(2005)
Neurology
, vol.65
, pp. 1304-1305
-
-
Haubenberger, D.1
Bittner, R.E.2
Rauch-Shorny, S.3
Zimprich, F.4
Mannhalter, C.5
Wagner, L.6
Mineva, I.7
Vass, K.8
Auff, E.9
Zimprich, A.10
-
16
-
-
35348909072
-
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
-
Watts G.D., Thomasova D., Ramdeen S.K., Fulchiero E.C., Mehta S.G., Drachman D.A., Weihl C.C., Jamrozik Z., Kwiecinski H., Kaminska A., and Kimonis V.E. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin. Genet. 72 (2007) 420-426
-
(2007)
Clin. Genet.
, vol.72
, pp. 420-426
-
-
Watts, G.D.1
Thomasova, D.2
Ramdeen, S.K.3
Fulchiero, E.C.4
Mehta, S.G.5
Drachman, D.A.6
Weihl, C.C.7
Jamrozik, Z.8
Kwiecinski, H.9
Kaminska, A.10
Kimonis, V.E.11
-
17
-
-
0001501524
-
New autosomal dominant inclusion body myopathy (AD-IBM) with many congophilic muslce nuclei that contain paired-helical filaments (PHFs) composed of phosphorylated tau
-
Alvarez A., Simmons Z., and Askanas E.W.K.V. New autosomal dominant inclusion body myopathy (AD-IBM) with many congophilic muslce nuclei that contain paired-helical filaments (PHFs) composed of phosphorylated tau. Neuro 50 (1998) A204
-
(1998)
Neuro
, vol.50
-
-
Alvarez, A.1
Simmons, Z.2
Askanas, E.W.K.V.3
-
18
-
-
56449101862
-
-
T.P. Weihl, C.C. Miller, S.E. Watts, G. Smith, C. Forman, M. Hanson, P.I. Kimonis, and A. Pestronk, TDP-43 accumulation in IBM muscle suggests a common pathogenic mechanism with Frontotemporal dementia, (2008).
-
T.P. Weihl, C.C. Miller, S.E. Watts, G. Smith, C. Forman, M. Hanson, P.I. Kimonis, and A. Pestronk, TDP-43 accumulation in IBM muscle suggests a common pathogenic mechanism with Frontotemporal dementia, (2008).
-
-
-
-
19
-
-
33846815066
-
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations
-
Neumann M., Mackenzie I.R., Cairns N.J., Boyer P.J., Markesbery W.R., Smith C.D., Taylor J.P., Kretzschmar H.A., Kimonis V.E., and Forman M.S. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J. Neuropathol. Exp. Neurol. 66 (2007) 152-157
-
(2007)
J. Neuropathol. Exp. Neurol.
, vol.66
, pp. 152-157
-
-
Neumann, M.1
Mackenzie, I.R.2
Cairns, N.J.3
Boyer, P.J.4
Markesbery, W.R.5
Smith, C.D.6
Taylor, J.P.7
Kretzschmar, H.A.8
Kimonis, V.E.9
Forman, M.S.10
-
20
-
-
46749127771
-
Pathogenesis and management of Paget's disease of bone
-
Ralston S.H., Langston A.L., and Reid I.R. Pathogenesis and management of Paget's disease of bone. Lancet 372 (2008) 155-163
-
(2008)
Lancet
, vol.372
, pp. 155-163
-
-
Ralston, S.H.1
Langston, A.L.2
Reid, I.R.3
-
21
-
-
33846259673
-
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)
-
Mehta S.G., Watts G.D., Adamson J.L., Hutton M., Umberger G., Xiong S., Ramdeen S., Lovell M.A., Kimonis V.E., and Smith C.D. APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD). Genet. Med. 9 (2007) 9-13
-
(2007)
Genet. Med.
, vol.9
, pp. 9-13
-
-
Mehta, S.G.1
Watts, G.D.2
Adamson, J.L.3
Hutton, M.4
Umberger, G.5
Xiong, S.6
Ramdeen, S.7
Lovell, M.A.8
Kimonis, V.E.9
Smith, C.D.10
-
22
-
-
33746693220
-
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations
-
Forman M.S., Mackenzie I.R., Cairns N.J., Swanson E., Boyer P.J., Drachman D.A., Jhaveri B.S., Karlawish J.H., Pestronk A., Smith T.W., Tu P.H., Watts G.D., Markesbery W.R., Smith C.D., and Kimonis V.E. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J. Neuropathol. Exp. Neurol. 65 (2006) 571-581
-
(2006)
J. Neuropathol. Exp. Neurol.
, vol.65
, pp. 571-581
-
-
Forman, M.S.1
Mackenzie, I.R.2
Cairns, N.J.3
Swanson, E.4
Boyer, P.J.5
Drachman, D.A.6
Jhaveri, B.S.7
Karlawish, J.H.8
Pestronk, A.9
Smith, T.W.10
Tu, P.H.11
Watts, G.D.12
Markesbery, W.R.13
Smith, C.D.14
Kimonis, V.E.15
-
23
-
-
40449133507
-
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
-
Kimonis V.E., Mehta S.G., Fulchiero E.C., Thomasova D., Pasquali M., Boycott K., Neilan E.G., Kartashov A., Forman M.S., Tucker S., Kimonis K., Mumm S., Whyte M.P., Smith C.D., and Watts G.D. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am. J. Med. Genet. A. 146 (2008) 745-757
-
(2008)
Am. J. Med. Genet. A.
, vol.146
, pp. 745-757
-
-
Kimonis, V.E.1
Mehta, S.G.2
Fulchiero, E.C.3
Thomasova, D.4
Pasquali, M.5
Boycott, K.6
Neilan, E.G.7
Kartashov, A.8
Forman, M.S.9
Tucker, S.10
Kimonis, K.11
Mumm, S.12
Whyte, M.P.13
Smith, C.D.14
Watts, G.D.15
-
24
-
-
0034502514
-
Structure of the AAA ATPase p97
-
Zhang X., Shaw A., Bates P.A., Newman R.H., Gowen B., Orlova E., Gorman M.A., Kondo H., Dokurno P., Lally J., Leonard G., Meyer H., van Heel M., and Freemont P.S. Structure of the AAA ATPase p97. Mol. Cell. 6 (2000) 1473-1484
-
(2000)
Mol. Cell.
, vol.6
, pp. 1473-1484
-
-
Zhang, X.1
Shaw, A.2
Bates, P.A.3
Newman, R.H.4
Gowen, B.5
Orlova, E.6
Gorman, M.A.7
Kondo, H.8
Dokurno, P.9
Lally, J.10
Leonard, G.11
Meyer, H.12
van Heel, M.13
Freemont, P.S.14
-
25
-
-
0141507032
-
Complete structure of p97/valosin-containing protein reveals communication between nucleotide domains
-
DeLaBarre B., and Brunger A.T. Complete structure of p97/valosin-containing protein reveals communication between nucleotide domains. Nat. Struct. Biol. 10 (2003) 856-863
-
(2003)
Nat. Struct. Biol.
, vol.10
, pp. 856-863
-
-
DeLaBarre, B.1
Brunger, A.T.2
-
26
-
-
11844263929
-
A series of ubiquitin binding factors connects CDC48/p97 to substrate multiubiquitylation and proteasomal targeting
-
Richly H., Rape M., Braun S., Rumpf S., Hoege C., and Jentsch S. A series of ubiquitin binding factors connects CDC48/p97 to substrate multiubiquitylation and proteasomal targeting. Cell 120 (2005) 73-84
-
(2005)
Cell
, vol.120
, pp. 73-84
-
-
Richly, H.1
Rape, M.2
Braun, S.3
Rumpf, S.4
Hoege, C.5
Jentsch, S.6
-
27
-
-
0036136901
-
AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation
-
Rabinovich E., Kerem A., Frohlich K.U., Diamant N., and Bar-Nun S. AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation. Mol. Cell. Biol. 22 (2002) 626-634
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 626-634
-
-
Rabinovich, E.1
Kerem, A.2
Frohlich, K.U.3
Diamant, N.4
Bar-Nun, S.5
-
28
-
-
0035818999
-
The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol
-
Ye Y., Meyer H.H., and Rapoport T.A. The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol. Nature 414 (2001) 652-656
-
(2001)
Nature
, vol.414
, pp. 652-656
-
-
Ye, Y.1
Meyer, H.H.2
Rapoport, T.A.3
-
29
-
-
0034772572
-
VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration
-
Hirabayashi M., Inoue K., Tanaka K., Nakadate K., Ohsawa Y., Kamei Y., Popiel A.H., Sinohara A., Iwamatsu A., Kimura Y., Uchiyama Y., Hori S., and Kakizuka A. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell. Death Differ. 8 (2001) 977-984
-
(2001)
Cell. Death Differ.
, vol.8
, pp. 977-984
-
-
Hirabayashi, M.1
Inoue, K.2
Tanaka, K.3
Nakadate, K.4
Ohsawa, Y.5
Kamei, Y.6
Popiel, A.H.7
Sinohara, A.8
Iwamatsu, A.9
Kimura, Y.10
Uchiyama, Y.11
Hori, S.12
Kakizuka, A.13
-
30
-
-
0347298790
-
Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells
-
Kobayashi T., Tanaka K., Inoue K., and Kakizuka A. Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells. J. Biol. Chem. 277 (2002) 47358-47365
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 47358-47365
-
-
Kobayashi, T.1
Tanaka, K.2
Inoue, K.3
Kakizuka, A.4
-
31
-
-
34447093377
-
Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice
-
Weihl C.C., Miller S.E., Hanson P.I., and Pestronk A. Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice. Hum. Mol. Genet. 16 (2007) 919-928
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 919-928
-
-
Weihl, C.C.1
Miller, S.E.2
Hanson, P.I.3
Pestronk, A.4
-
32
-
-
31144470450
-
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation
-
Weihl C.C., Dalal S., Pestronk A., and Hanson P.I. Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. Hum. Mol. Genet. 15 (2006) 189-199
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 189-199
-
-
Weihl, C.C.1
Dalal, S.2
Pestronk, A.3
Hanson, P.I.4
-
33
-
-
39449116598
-
Roles of VCP in human neurodegenerative disorders
-
Kakizuka A. Roles of VCP in human neurodegenerative disorders. Biochem. Soc. Trans. 36 (2008) 105-108
-
(2008)
Biochem. Soc. Trans.
, vol.36
, pp. 105-108
-
-
Kakizuka, A.1
-
34
-
-
0037108914
-
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease
-
Hocking L.J., Lucas G.J., Daroszewska A., Mangion J., Olavesen M., Cundy T., Nicholson G.C., Ward L., Bennett S.T., Wuyts W., Van Hul W., and Ralston S.H. Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum. Mol. Genet. 11 (2002) 2735-2739
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2735-2739
-
-
Hocking, L.J.1
Lucas, G.J.2
Daroszewska, A.3
Mangion, J.4
Olavesen, M.5
Cundy, T.6
Nicholson, G.C.7
Ward, L.8
Bennett, S.T.9
Wuyts, W.10
Van Hul, W.11
Ralston, S.H.12
-
35
-
-
0035919837
-
Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies
-
Kuusisto E., Salminen A., and Alafuzoff I. Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies. Neuroreport 12 (2001) 2085-2090
-
(2001)
Neuroreport
, vol.12
, pp. 2085-2090
-
-
Kuusisto, E.1
Salminen, A.2
Alafuzoff, I.3
-
36
-
-
0030714605
-
A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function
-
Anderson D.M., Maraskovsky E., Billingsley W.L., Dougall W.C., Tometsko M.E., Roux E.R., Teepe M.C., DuBose R.F., Cosman D., and Galibert L. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. Nature 390 (1997) 175-179
-
(1997)
Nature
, vol.390
, pp. 175-179
-
-
Anderson, D.M.1
Maraskovsky, E.2
Billingsley, W.L.3
Dougall, W.C.4
Tometsko, M.E.5
Roux, E.R.6
Teepe, M.C.7
DuBose, R.F.8
Cosman, D.9
Galibert, L.10
-
38
-
-
62349132008
-
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation
-
Available online 24 September 2007
-
Bersano A., Del Bo R., Lamperti C., Ghezzi S., Fagiolari G., Fortunato F., Ballabio E., Moggio M., Candelise L., Galimberti D., Virgilio R., Lanfranconi S., Torrente Y., Carpo M., Bresolin N., Comi G.P., and Corti S. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol. Aging. (2007) Available online 24 September 2007
-
(2007)
Neurobiol. Aging.
-
-
Bersano, A.1
Del Bo, R.2
Lamperti, C.3
Ghezzi, S.4
Fagiolari, G.5
Fortunato, F.6
Ballabio, E.7
Moggio, M.8
Candelise, L.9
Galimberti, D.10
Virgilio, R.11
Lanfranconi, S.12
Torrente, Y.13
Carpo, M.14
Bresolin, N.15
Comi, G.P.16
Corti, S.17
-
39
-
-
45149119899
-
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
-
Viassolo V., Previtali S.C., Schiatti E., Magnani G., Minetti C., Zara F., Grasso M., Dagna-Bricarelli F., and Di Maria E. Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. Clin. Genet. 74 (2008) 54-60
-
(2008)
Clin. Genet.
, vol.74
, pp. 54-60
-
-
Viassolo, V.1
Previtali, S.C.2
Schiatti, E.3
Magnani, G.4
Minetti, C.5
Zara, F.6
Grasso, M.7
Dagna-Bricarelli, F.8
Di Maria, E.9
-
40
-
-
37749041902
-
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene
-
Gidaro T., Modoni A., Sabatelli M., Tasca G., Broccolini A., and Mirabella M. An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene. Muscle Nerve 37 (2008) 111-114
-
(2008)
Muscle Nerve
, vol.37
, pp. 111-114
-
-
Gidaro, T.1
Modoni, A.2
Sabatelli, M.3
Tasca, G.4
Broccolini, A.5
Mirabella, M.6
-
41
-
-
45149119899
-
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
-
Viassolo V., Previtali S.C., Schiatti E., Magnani G., Minetti C., Zara F., Grasso M., Dagna-Bricarelli F., and Di Maria E. Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. Clin. Genet. 74 (2008) 54-60
-
(2008)
Clin. Genet.
, vol.74
, pp. 54-60
-
-
Viassolo, V.1
Previtali, S.C.2
Schiatti, E.3
Magnani, G.4
Minetti, C.5
Zara, F.6
Grasso, M.7
Dagna-Bricarelli, F.8
Di Maria, E.9
-
42
-
-
56449085566
-
Frontotemporal dementia associated with a Valosin-Containing Protein mutation: report of three families
-
Spina S., Van Laar A.D., Murrell J.R., de Courten-Myers G., Hamilton R.L., Farlow M.R., Quinlan J., DeKosky S.T., and Ghetti B. Frontotemporal dementia associated with a Valosin-Containing Protein mutation: report of three families. FASEB J. 22 (2008) 58.4
-
(2008)
FASEB J.
, vol.22
-
-
Spina, S.1
Van Laar, A.D.2
Murrell, J.R.3
de Courten-Myers, G.4
Hamilton, R.L.5
Farlow, M.R.6
Quinlan, J.7
DeKosky, S.T.8
Ghetti, B.9
|