-
2
-
-
18344386777
-
Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white matter
-
Leegwater PA, Vermeulen G, Konst AA, et al. Subunits of the translation initiation factor elF2B 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
Konst, A.A.3
-
3
-
-
0036156978
-
Mutations in each of the five subunits of translation initiation factor elF2B can cause leukoencephalopathy with vanishing white matter
-
van der Knaap MS, Leegwater PA, Konst AA, et al. Mutations in each of the five subunits of translation initiation factor elF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002; 51:264-270. The authors discovered the full extent of this complex syndrome.
-
(2002)
Ann Neurol
, vol.51
, pp. 264-270
-
-
Van Der Knaap, M.S.1
Leegwater, P.A.2
Konst, A.A.3
-
4
-
-
0141893593
-
Leukoencephalopathy with vanishing white matter: From magnetic resonance imaging pattern to five genes
-
Leegwater PA, Pronk JC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. J Child Neurol 2003; 18:639-645. This is a recent and comprehensive review on this topic.
-
(2003)
J Child Neurol
, vol.18
, pp. 639-645
-
-
Leegwater, P.A.1
Pronk, J.C.2
Van Der Knaap, M.S.3
-
5
-
-
0036440779
-
Regulation of mammalian translation factors by nutrients
-
Proud CG. Regulation of mammalian translation factors by nutrients. Eur J Biochem 2002; 269:5338-5349.
-
(2002)
Eur J Biochem
, vol.269
, pp. 5338-5349
-
-
Proud, C.G.1
-
6
-
-
0035231980
-
Regulation of eukaryotic initiation factor elF2B
-
Proud CG. Regulation of eukaryotic initiation factor elF2B. Prog Mol Subcell Biol 2001; 26:95-114.
-
(2001)
Prog Mol Subcell Biol
, vol.26
, pp. 95-114
-
-
Proud, C.G.1
-
7
-
-
0036791923
-
Cree leukoencephalopathy and CACH/VWM disease are allelic at the ElF2B5 locus
-
Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the ElF2B5 locus. Ann Neurol 2002; 52:506-510. This first 'non-classic' phenotype of VWM/CACH was suspected initially on the basis of similar abnormalities of oligodendrocytes that are present in the classic form of this syndrome.
-
(2002)
Ann Neurol
, vol.52
, pp. 506-510
-
-
Fogli, A.1
Wong, K.2
Eymard-Pierre, E.3
-
8
-
-
0033770347
-
Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome
-
Berl
-
Wong K, Armstrong RC, Gyure KA, et al. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol (Berl) 2000; 100:635-646.
-
(2000)
Acta Neuropathol
, vol.100
, pp. 635-646
-
-
Wong, K.1
Armstrong, R.C.2
Gyure, K.A.3
-
9
-
-
0037168792
-
A severe variant of childhood ataxia with central hypomyelination/ vanishing white matter leukoencephalopathy related to ElF21B5 mutation
-
Fogli A, Dionisi-Vici C, Deodato F, et al. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to ElF21B5 mutation. Neurology 2002; 59:1966-1968.
-
(2002)
Neurology
, vol.59
, pp. 1966-1968
-
-
Fogli, A.1
Dionisi-Vici, C.2
Deodato, F.3
-
10
-
-
0030975392
-
A new leukoencephalopathy with vanishing white matter
-
van der Knaap MS, Barth PG, Gabreels 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
Gabreels, F.J.3
-
11
-
-
0030944598
-
Leukodystrophy in patients with ovarian dysgenesis
-
Schiffmann R, Tedeschi G, Kinkel RP, et al. Leukodystrophy in patients with ovarian dysgenesis. Ann Neurol 1997; 41:654-661.
-
(1997)
Ann Neurol
, vol.41
, pp. 654-661
-
-
Schiffmann, R.1
Tedeschi, G.2
Kinkel, R.P.3
-
12
-
-
0038015577
-
Ovarian failure related to eukaryotic initiation factor 2B mutations
-
Fogli A, Rodriguez D, Eymard-Pierre E, et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003; 72:1544-1550. The elF2B mutations are now among the few single gene defects known to cause ovarian failure.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1544-1550
-
-
Fogli, A.1
Rodriguez, D.2
Eymard-Pierre, E.3
-
13
-
-
0242522401
-
elF2B-Related disorders: Antenatal onset and involvement of multiple organs
-
Van Der Knaap MS, Van Berkel CG, Herms J, et al. elF2B-Related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003; 73:1199-1207. This paper provides further delineation of the extensive VWM/CACH phenotype that now includes the entire life span.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1199-1207
-
-
Van Der Knaap, M.S.1
Van Berkel, C.G.2
Herms, J.3
-
14
-
-
17944393285
-
Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination
-
Bluml S, Philippart M, Schiffmann R, et al. Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination. Neurology 2003; 61:648-654.
-
(2003)
Neurology
, vol.61
, pp. 648-654
-
-
Bluml, S.1
Philippart, M.2
Schiffmann, R.3
-
15
-
-
0036793880
-
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum
-
van der Knaap MS, Naidu S, Pouwels PJ, et al. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol 2002; 23:1466-1474.
-
(2002)
AJNR Am J Neuroradiol
, vol.23
, pp. 1466-1474
-
-
Van Der Knaap, M.S.1
Naidu, S.2
Pouwels, P.J.3
-
16
-
-
0037307897
-
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate
-
van der Knaap MS, van der Voorn P, Barkhof F, et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003; 53:252-258.
-
(2003)
Ann Neurol
, vol.53
, pp. 252-258
-
-
Van Der Knaap, M.S.1
Van Der Voorn, P.2
Barkhof, F.3
-
17
-
-
12144290399
-
Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate
-
in press
-
Serkov SV, Pronin IN, Bykova OV, et al. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics 2004; (in press).
-
(2004)
Neuropediatrics
-
-
Serkov, S.V.1
Pronin, I.N.2
Bykova, O.V.3
-
18
-
-
0037219061
-
Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy
-
McGuinness MC, Lu JF, Zhang HP, et al. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol Cell Biol 2003; 23:744-753.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 744-753
-
-
McGuinness, M.C.1
Lu, J.F.2
Zhang, H.P.3
-
19
-
-
0038692415
-
Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment
-
Zhang LX, Bakshi R, Fine E, Moser HW. Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment. J Neurol Neurosurg Psychiatry 2003; 74:822-823.
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 822-823
-
-
Zhang, L.X.1
Bakshi, R.2
Fine, E.3
Moser, H.W.4
-
20
-
-
0041624042
-
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
-
Loes DJ, Fatemi A, Melhem ER, et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 2003; 61:369-374.
-
(2003)
Neurology
, vol.61
, pp. 369-374
-
-
Loes, D.J.1
Fatemi, A.2
Melhem, E.R.3
-
21
-
-
0028046953
-
Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: Clinical and molecular studies
-
Kaye EM, Doll RF, Natowicz MR, Smith FI. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies. Ann Neurol 1994; 36:916-919.
-
(1994)
Ann Neurol
, vol.36
, pp. 916-919
-
-
Kaye, E.M.1
Doll, R.F.2
Natowicz, M.R.3
Smith, F.I.4
-
22
-
-
0033554340
-
Peripheral neuropathy caused by proteolipid protein gene mutations
-
Garbern JY, Cambi F, Lewis R, et al. Peripheral neuropathy caused by proteolipid protein gene mutations. Ann N Y Acad Sci 1999; 883:351-365.
-
(1999)
Ann N Y Acad Sci
, vol.883
, pp. 351-365
-
-
Garbern, J.Y.1
Cambi, F.2
Lewis, R.3
-
23
-
-
0037369640
-
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy
-
Shy ME, Hobson G, Jain M, et al. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 2003; 53:354-365. This work represents an important advance in our ability to predict which PLP1 mutations will cause peripheral nerve involvement.
-
(2003)
Ann Neurol
, vol.53
, pp. 354-365
-
-
Shy, M.E.1
Hobson, G.2
Jain, M.3
-
24
-
-
10744223759
-
Insertion of mutant proteolipid protein results in missorting of myelin proteins
-
Vaurs-Barriere C, Wong K, Weibel TD, et al. Insertion of mutant proteolipid protein results in missorting of myelin proteins. Ann Neurol 2003; 54:769-780. This paper describes a novel mechanism of myelin disruption and provides a direct demonstration of the presence of mutant PLP in the myelin sheath and its consequences regarding other structural proteins, using a combination of immunohistochemistry and immunogold electron microscopy.
-
(2003)
Ann Neurol
, vol.54
, pp. 769-780
-
-
Vaurs-Barriere, C.1
Wong, K.2
Weibel, T.D.3
-
25
-
-
0037079142
-
The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease
-
Southwood CM, Garbern J, Jiang W, Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 2002; 36:585-596.
-
(2002)
Neuron
, vol.36
, pp. 585-596
-
-
Southwood, C.M.1
Garbern, J.2
Jiang, W.3
Gow, A.4
-
26
-
-
0037379868
-
Genetic background determines phenotypic severity of the Plp rumpshaker mutation
-
Al-Saktawi K, McLaughlin M, Klugmann M, et al. Genetic background determines phenotypic severity of the Plp rumpshaker mutation. J Neurosci Res 2003; 72:12-24.
-
(2003)
J Neurosci Res
, vol.72
, pp. 12-24
-
-
Al-Saktawi, K.1
McLaughlin, M.2
Klugmann, M.3
-
27
-
-
0036189424
-
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
-
Garbern JY, Yool DA, Moore GJ, et al. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002; 125:551-561.
-
(2002)
Brain
, vol.125
, pp. 551-561
-
-
Garbern, J.Y.1
Yool, D.A.2
Moore, G.J.3
-
28
-
-
0037370361
-
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
-
Lappe-Siefke C, Goebbels S, Gravel M, et al. Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nat Genet 2003; 33:366-374. This paper describes a surprise finding that indicates that one cannot predict the function of the protein on the basis of its cellular location.
-
(2003)
Nat Genet
, vol.33
, pp. 366-374
-
-
Lappe-Siefke, C.1
Goebbels, S.2
Gravel, M.3
-
29
-
-
2342657880
-
The effect of genotype on the natural history of elF2B-related leukodystrophies
-
in press
-
Fogli A, Schiffmann R, Bertini E, et al. The effect of genotype on the natural history of elF2B-related leukodystrophies. Neurology; (in press).
-
Neurology
-
-
Fogli, A.1
Schiffmann, R.2
Bertini, E.3
|