-
1
-
-
0030975392
-
A new leukoencephalopathy with vanishing white matter
-
Van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
-
(1997)
Neurology
, vol.48
, pp. 845-855
-
-
Van Der Knaap, M.S.1
Barth, P.G.2
Gabreëls, F.J.3
-
2
-
-
0031721955
-
Phenotypic variation in leukoencephalopathy with vanishing white matter
-
Van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998;51:540-547.
-
(1998)
Neurology
, vol.51
, pp. 540-547
-
-
Van Der Knaap, M.S.1
Kamphorst, W.2
Barth, P.G.3
Kraaijeveld, C.L.4
Gut, E.5
Valk, J.6
-
3
-
-
0028351908
-
Childhood ataxia with diffuse central nervous hypomyelination
-
Schiffmann R, Moller JR, Trapp BD, et al. Childhood ataxia with diffuse central nervous hypomyelination. Ann Neurol 1994;35:331-340.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 331-340
-
-
Schiffmann, R.1
Moller, J.R.2
Trapp, B.D.3
-
4
-
-
0242522401
-
EIF2B-related disorders: Antenatal onset and involvement of multiple organs
-
Van der Knaap MS, Van Berkel GM, Herms J, et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-1207.
-
(2003)
Am. J. Hum Genet.
, vol.73
, pp. 1199-1207
-
-
Van Der Knaap, M.S.1
Van Berkel, G.M.2
Herms, J.3
-
5
-
-
18344386777
-
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
-
Leegwater PA, Vermeulen G, Könst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-388.
-
(2001)
Nat. Genet.
, vol.29
, pp. 383-388
-
-
Leegwater, P.A.1
Vermeulen, G.2
Könst, A.A.3
-
6
-
-
0036156978
-
Mutations in each of the fine subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
-
Van der Knaap MS, Leegwater PA, Könst AA, et al. Mutations in each of the fine subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002;51:264-270.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 264-270
-
-
Van Der Knaap, M.S.1
Leegwater, P.A.2
Könst, A.A.3
-
7
-
-
0027519635
-
Diffuse white matter disease in three children: An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy
-
Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993;24:244-248.
-
(1993)
Neuropediatrics
, vol.24
, pp. 244-248
-
-
Hanefeld, F.1
Holzbach, U.2
Kruse, B.3
Wilichowski, E.4
Christen, H.J.5
Frahm, J.6
-
8
-
-
16344365459
-
Fright is a provoking factor in vanishing white matter disease
-
Vermeulen G, Seidl R, Mercimek-Mahmutoglu S, Rotteveel JJ, Scheper GC, van der Knaap MS. Fright is a provoking factor in vanishing white matter disease. Ann Neurol 2005;57:560-563.
-
(2005)
Ann. Neurol.
, vol.57
, pp. 560-563
-
-
Vermeulen, G.1
Seidl, R.2
Mercimek-Mahmutoglu, S.3
Rotteveel, J.J.4
Scheper, G.C.5
Van Der Knaap, M.S.6
-
10
-
-
28844478867
-
EIF2B, a mediator of general and gene-specific translational control
-
Pavitt GD. eIF2B, a mediator of general and gene-specific translational control. Biochem Soc Trans 2005;33:1487-1492.
-
(2005)
Biochem. Soc. Trans
, vol.33
, pp. 1487-1492
-
-
Pavitt, G.D.1
-
11
-
-
0037039241
-
Wong K Fatal infantile leukodystrophy: A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
-
Black DB, Harris R, Schiffmann R, Wong K Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2002;58:161-162.
-
(2002)
Neurology
, vol.58
, pp. 161-162
-
-
Black, D.B.1
Harris, R.2
Schiffmann, R.3
-
12
-
-
0036791923
-
Cree leukoencephalopathy and CACH/VWM disease are allelic at EIF2B5 locus
-
Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at EIF2B5 locus. Ann Neurol 2002;52:506-510.
-
(2002)
Ann. Neurol.
, vol.52
, pp. 506-510
-
-
Fogli, A.1
Wong, K.2
Eymard-Pierre, E.3
-
13
-
-
0034764190
-
Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia
-
Prass K, Brück W, Schroder NW, et al. Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol 2001;50:665-668.
-
(2001)
Ann. Neurol.
, vol.50
, pp. 665-668
-
-
Prass, K.1
Brück, W.2
Schroder, N.W.3
-
14
-
-
0347364662
-
Leukoencephalopathy with vanishing white matter: An adult onset case
-
Biancheri R, Rossi A, Di Rocco M, et al. Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 2003;61:1818-1819.
-
(2003)
Neurology
, vol.61
, pp. 1818-1819
-
-
Biancheri, R.1
Rossi, A.2
Di Rocco, M.3
-
15
-
-
2342551021
-
Arg113His mutation in eIF2Be as cause of leukoencephalopathy in adults
-
Van der Knaap MS, Leegwater PAJ, van Berkel CGM, et al. Arg113His mutation in eIF2Be as cause of leukoencephalopathy in adults. Neurology 2004;62:1598-1600.
-
(2004)
Neurology
, vol.62
, pp. 1598-1600
-
-
Van Der Knaap, M.S.1
Leegwater, P.A.J.2
Van Berkel, C.3
-
16
-
-
2342657880
-
The effect of genotype on the natural history of eIF2B-related leukodystrophies
-
Fogli A, Schiffmann R, Bertini E, et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004;62:1509-1517.
-
(2004)
Neurology
, vol.62
, pp. 1509-1517
-
-
Fogli, A.1
Schiffmann, R.2
Bertini, E.3
-
17
-
-
2342547021
-
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5
-
Ohtake H, Shimohata T, Terajima K, et al. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 2004;62:1601-1603.
-
(2004)
Neurology
, vol.62
, pp. 1601-1603
-
-
Ohtake, H.1
Shimohata, T.2
Terajima, K.3
-
18
-
-
54049138732
-
Intrafamilial heterogeneity in adult onset vanishing white matter disease
-
Damon-Perriere N, Menegon P, Olivier A, et al. Intrafamilial heterogeneity in adult onset vanishing white matter disease. Clin Neurol Neurosurg 2008;110:1068-1071.
-
(2008)
Clin. Neurol. Neurosurg.
, vol.110
, pp. 1068-1071
-
-
Damon-Perriere, N.1
Menegon, P.2
Olivier, A.3
-
19
-
-
67749093175
-
Natural history of adult-onset eIF2B-related disorders: A multi-centric survey of 16 cases
-
Labauge P, Horzinski L, Ayrignac X, et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 2009;132:2161-2169.
-
(2009)
Brain
, vol.132
, pp. 2161-2169
-
-
Labauge, P.1
Horzinski, L.2
Ayrignac, X.3
-
21
-
-
32544451056
-
Identification of ten novel mutations in patients with eIF2B-related disorders
-
Ohlenbusch A, Henneke M, Brockmann K, et al. Identification of ten novel mutations in patients with eIF2B-related disorders. Hum Mutat 2005;25:411.
-
(2005)
Hum Mutat.
, vol.25
, pp. 411
-
-
Ohlenbusch, A.1
Henneke, M.2
Brockmann, K.3
-
23
-
-
33749067442
-
The spectrum of mutations for the diagnosis of vanishing white matter disease
-
Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci 2006;27:271-277.
-
(2006)
Neurol. Sci.
, vol.27
, pp. 271-277
-
-
Scali, O.1
Di Perri, C.2
Federico, A.3
-
24
-
-
38349129157
-
Genetic and clinical heterogeneity in eIF2B-related disorder
-
Maletkovic J, Schiffmann R, Gorospe JR, et al. Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol 2008;23:205-215.
-
(2008)
J. Child Neurol.
, vol.23
, pp. 205-215
-
-
Maletkovic, J.1
Schiffmann, R.2
Gorospe, J.R.3
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