-
1
-
-
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
-
2
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
DOI 10.1038/ng1332
-
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. (Pubitemid 38437260)
-
(2004)
Nature Genetics
, vol.36
, Issue.4
, pp. 377-381
-
-
Watts, G.D.J.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
-
3
-
-
40449133507
-
Clinical studies in familial VCP myopathy associated with paget disease of bone and frontotemporal dementia
-
DOI 10.1002/ajmg.a.31862
-
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 2008;146A:745-757. (Pubitemid 351354150)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.6
, 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.J.15
-
4
-
-
84857041474
-
Characterization of the asian myopathy patients with VCP mutations
-
Shi Z, Hayashi Y, 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.2
Mitsuhashi, S.3
-
5
-
-
79960921216
-
Distinct distal myopathy phenotype caused by VCP gene mutation in a finnish family
-
Palmo 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
-
-
Palmo, J.1
Sandell, S.2
Suominen, T.3
-
6
-
-
56049109405
-
Hereditary inclusion body myopathy and other rimmed vacuolar myopathies
-
Aminoff MJ, Boller F, Swaab DF, et al., editors. Myopathies. Amsterdam: Elsevier
-
Argov Z, Mitrani-Rosenbaum S. Hereditary inclusion body myopathy and other rimmed vacuolar myopathies. In: Aminoff MJ, Boller F, Swaab DF, et al., editors. Handbook of clinical neurology, vol 86, Myopathies. Amsterdam: Elsevier; 2006. p. 243-253.
-
(2006)
Handbook of Clinical Neurology
, vol.86
, pp. 243-253
-
-
Argov, Z.1
Mitrani-Rosenbaum, S.2
-
7
-
-
56449111307
-
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder
-
Kimonis VE, Fulchiero E, Vesa J, et al. 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
-
8
-
-
2142658787
-
Paget disease of bone. Diagnosis and indications for treatment
-
Kotowicz MA. Paget disease of bone. Diagnosis and indications for treatment. Aust Fam Physician 2004;33:127-131.
-
(2004)
Aust Fam Physician
, vol.33
, pp. 127-131
-
-
Kotowicz, M.A.1
-
9
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
-
10
-
-
72049120172
-
-
Brain Nerve 2009;61:1269-1273.
-
(2009)
Brain Nerve
, vol.61
, pp. 1269-1273
-
-
-
11
-
-
67649400881
-
Patterns of cortical thinning in the language variants of frontotemporal lobar degeneration
-
Rohrer JD, Warren JD, Modat M, et al. Patterns of cortical thinning in the language variants of frontotemporal lobar degeneration. Neurology 2009;72:1562-1569.
-
(2009)
Neurology
, vol.72
, pp. 1562-1569
-
-
Rohrer, J.D.1
Warren, J.D.2
Modat, M.3
-
12
-
-
79958699242
-
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family
-
Kim EJ, Park YN, 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.N.2
Kim, D.S.3
|