-
1
-
-
0024330420
-
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
-
L.D. Hudson, C. Puckett, J. Berndt, J. Chan, and S. Gencic Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder Proc Natl Acad Sci U S A 86 20 1989 8128 8131
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, Issue.20
, pp. 8128-8131
-
-
Hudson, L.D.1
Puckett, C.2
Berndt, J.3
Chan, J.4
Gencic, S.5
-
3
-
-
0032103916
-
Current concepts of PLP and its role in the nervous system
-
I. Griffiths, M. Klugmann, T. Anderson, C. Thomson, D. Vouyiouklis, and K.A. Nave Current concepts of PLP and its role in the nervous system Microsc Res Tech 4 1998 344 358
-
(1998)
Microsc Res Tech
, vol.4
, pp. 344-358
-
-
Griffiths, I.1
Klugmann, M.2
Anderson, T.3
Thomson, C.4
Vouyiouklis, D.5
Nave, K.A.6
-
4
-
-
33846507259
-
Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis
-
J.Y. Garbern Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis Cell Mol Life Sci 64 2007 50 65
-
(2007)
Cell Mol Life Sci
, vol.64
, pp. 50-65
-
-
Garbern, J.Y.1
-
5
-
-
44249091912
-
The molecular and cellular defects underlying Pelizaeus-Merzbacher disease
-
K.J. Woodward The molecular and cellular defects underlying Pelizaeus-Merzbacher disease Expert Rev Mol Med 10 2008 e14
-
(2008)
Expert Rev Mol Med
, vol.10
, pp. 14
-
-
Woodward, K.J.1
-
6
-
-
77957165566
-
Heterogeneous rearrangements of the PLP genomic region in Pelizaeus-Merzbacher disease: Genotype-phenotype correlation in 41 patients
-
[Program Nr]
-
O. Boespflug-Tanguy, G. Giraud, C. Mimault, V. Isabelle, and D.P. Dinh Heterogeneous rearrangements of the PLP genomic region in Pelizaeus-Merzbacher disease: genotype-phenotype correlation in 41 patients Am J Hum Genet 65 1597 [Program Nr]
-
(1597)
Am J Hum Genet
, vol.65
-
-
Boespflug-Tanguy, O.1
Giraud, G.2
Mimault, C.3
Isabelle, V.4
Dinh, D.P.5
-
7
-
-
0031801082
-
Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
-
E.A. Sistermans, R.F. de Coo, I.J. de Wijs, and B.A. van Oost Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease Neurology 50 1998 1749 1754
-
(1998)
Neurology
, vol.50
, pp. 1749-1754
-
-
Sistermans, E.A.1
De Coo, R.F.2
De Wijs, I.J.3
Van Oost, B.A.4
-
8
-
-
0142139308
-
The unfolded protein response in protein aggregating diseases
-
A. Gow, and R. Sharma The unfolded protein response in protein aggregating diseases Neuromolecular Med 4 2003 73 94
-
(2003)
Neuromolecular Med
, vol.4
, pp. 73-94
-
-
Gow, A.1
Sharma, R.2
-
9
-
-
0030036917
-
A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease
-
A. Gow, and R.A. Lazzarini A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease Nat Genet 13 1996 422 428
-
(1996)
Nat Genet
, vol.13
, pp. 422-428
-
-
Gow, A.1
Lazzarini, R.A.2
-
10
-
-
0032559544
-
Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease
-
A. Gow, C.M. Southwood, and R.A. Lazzarini Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease J Cell Biol 140 1998 925 934
-
(1998)
J Cell Biol
, vol.140
, pp. 925-934
-
-
Gow, A.1
Southwood, C.M.2
Lazzarini, R.A.3
-
11
-
-
0036189424
-
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
-
J.Y. Garbern, D.A. Yool, G.J. Moore, I.B. Wilds, M.W. Faulk, and M. Klugmann Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation Brain 125 2002 551 561
-
(2002)
Brain
, vol.125
, pp. 551-561
-
-
Garbern, J.Y.1
Yool, D.A.2
Moore, G.J.3
Wilds, I.B.4
Faulk, M.W.5
Klugmann, M.6
-
12
-
-
0033678145
-
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
-
F. Cailloux, F. Gauthier-Barichard, C. Mimault, V. Isabelle, V. Courtois, and G. Giraud Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations Eur J Hum Genet 8 2000 837 845
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 837-845
-
-
Cailloux, F.1
Gauthier-Barichard, F.2
Mimault, C.3
Isabelle, V.4
Courtois, V.5
Giraud, G.6
-
13
-
-
0034763032
-
Magnetic resonance in childhood white-matter disorders
-
M.S. van der Knaap Magnetic resonance in childhood white-matter disorders Dev Med Child Neurol 43 10 2001 705 712
-
(2001)
Dev Med Child Neurol
, vol.43
, Issue.10
, pp. 705-712
-
-
Van Der Knaap, M.S.1
-
14
-
-
0042233990
-
Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype
-
B. Plecko, S. Stockler-Ipsiroglu, S. Gruber, V. Mlynarik, E. Moser, and J. Simbrunner Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype Neuropediatrics 34 2003 127 136
-
(2003)
Neuropediatrics
, vol.34
, pp. 127-136
-
-
Plecko, B.1
Stockler-Ipsiroglu, S.2
Gruber, S.3
Mlynarik, V.4
Moser, E.5
Simbrunner, J.6
-
15
-
-
0032692761
-
MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication
-
J. Takanashi, K. Sugita, Y. Tanabe, K. Nagasawa, K. Inoue, and H. Osaka MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication J Neuroradiol 20 1999 1822 1828
-
(1999)
J Neuroradiol
, vol.20
, pp. 1822-1828
-
-
Takanashi, J.1
Sugita, K.2
Tanabe, Y.3
Nagasawa, K.4
Inoue, K.5
Osaka, H.6
-
16
-
-
77957688535
-
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
-
M.E. Steenweg, A. Vanderver, S. Blaser, A. Bizzi, T.J. de Koning, and G.M. Mancini Magnetic resonance imaging pattern recognition in hypomyelinating disorders Brain 133 2010 2971 2982
-
(2010)
Brain
, vol.133
, pp. 2971-2982
-
-
Steenweg, M.E.1
Vanderver, A.2
Blaser, S.3
Bizzi, A.4
De Koning, T.J.5
Mancini, G.M.6
-
17
-
-
0031953422
-
An MRI and MRS study of Pelizaeus-Merzbacher disease
-
A. Nezu, S. Kimura, S. Takeshita, H. Osaka, K. Kimura, and K. Inoue An MRI and MRS study of Pelizaeus-Merzbacher disease Pediatr Neurol 18 1998 334 337
-
(1998)
Pediatr Neurol
, vol.18
, pp. 334-337
-
-
Nezu, A.1
Kimura, S.2
Takeshita, S.3
Osaka, H.4
Kimura, K.5
Inoue, K.6
-
18
-
-
0030897651
-
Proton MR spectroscopy in Pelizaeus-Merzbacher disease
-
J. Takanashi, K. Sugita, H. Osaka, M. Ishii, and H. Niimi Proton MR spectroscopy in Pelizaeus-Merzbacher disease AJNR Am J Neuroradiol 18 1997 533 535
-
(1997)
AJNR Am J Neuroradiol
, vol.18
, pp. 533-535
-
-
Takanashi, J.1
Sugita, K.2
Osaka, H.3
Ishii, M.4
Niimi, H.5
-
19
-
-
0037154241
-
Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication
-
J. Takanashi, K. Inoue, M. Tomita, A. Kurihara, F. Morita, and H. Ikehira Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication Neurology 58 2002 237 241
-
(2002)
Neurology
, vol.58
, pp. 237-241
-
-
Takanashi, J.1
Inoue, K.2
Tomita, M.3
Kurihara, A.4
Morita, F.5
Ikehira, H.6
-
20
-
-
84856259814
-
Increased N-acetylaspartate in model mouse of Pelizaeus-Merzbacher disease
-
J. Takanashi, S. Saito, I. Aoki, A.J. Barkovich, Y. Ito, and K. Inoue Increased N-acetylaspartate in model mouse of Pelizaeus-Merzbacher disease J Magn Reson Imaging 35 Feb 2012 418 425
-
(2012)
J Magn Reson Imaging
, vol.35
, pp. 418-425
-
-
Takanashi, J.1
Saito, S.2
Aoki, I.3
Barkovich, A.J.4
Ito, Y.5
Inoue, K.6
-
21
-
-
0037469175
-
Intercaudate nucleus ratio as a linear measure of brain atrophy in multiple sclerosis
-
C. Caon, M. Zvartau-Hind, W. Ching, R.P. Lisak, A.C. Tselis, and O.A. Khan Intercaudate nucleus ratio as a linear measure of brain atrophy in multiple sclerosis Neurology 60 2003 323 325
-
(2003)
Neurology
, vol.60
, pp. 323-325
-
-
Caon, C.1
Zvartau-Hind, M.2
Ching, W.3
Lisak, R.P.4
Tselis, A.C.5
Khan, O.A.6
-
22
-
-
37449018037
-
Validation of linear cerebral atrophy markers in multiple sclerosis
-
H. Butzkueven, S.C. Kolbe, D.J. Jolley, J.Y. Brown, M.J. Cook, and I.A. van der Mei Validation of linear cerebral atrophy markers in multiple sclerosis J Clin Neurosci 15 2008 130 137
-
(2008)
J Clin Neurosci
, vol.15
, pp. 130-137
-
-
Butzkueven, H.1
Kolbe, S.C.2
Jolley, D.J.3
Brown, J.Y.4
Cook, M.J.5
Van Der Mei, I.A.6
-
23
-
-
0036129934
-
Bicaudate ratio as a magnetic resonance imaging marker of brain atrophy in multiple sclerosis
-
R.A. Bermel, R. Bakshi, C. Tjoa, S.R. Puli, and L. Jacobs Bicaudate ratio as a magnetic resonance imaging marker of brain atrophy in multiple sclerosis Arch Neurol 59 2002 275 280
-
(2002)
Arch Neurol
, vol.59
, pp. 275-280
-
-
Bermel, R.A.1
Bakshi, R.2
Tjoa, C.3
Puli, S.R.4
Jacobs, L.5
-
24
-
-
51649086702
-
Measuring cerebral atrophy and white matter hyperintensity burden to predict the rate of cognitive decline in Alzheimer disease
-
A.M. Brickman, L.S. Honig, N. Scarmeas, O. Tatarina, L. Sanders, and M.S. Albert Measuring cerebral atrophy and white matter hyperintensity burden to predict the rate of cognitive decline in Alzheimer disease Arch Neurol 65 2008 1202 1208
-
(2008)
Arch Neurol
, vol.65
, pp. 1202-1208
-
-
Brickman, A.M.1
Honig, L.S.2
Scarmeas, N.3
Tatarina, O.4
Sanders, L.5
Albert, M.S.6
-
25
-
-
65949087892
-
Evaluation of delayed neuronal and axonal damage secondary to moderate and severe traumatic brain injury using quantitative MR imaging techniques
-
A.E. Mamere, L.A. Saraiva, A.L. Matos, A.A. Carneiro, and A.C. Santos Evaluation of delayed neuronal and axonal damage secondary to moderate and severe traumatic brain injury using quantitative MR imaging techniques AJNR Am J Neuroradiol 30 2009 947 952
-
(2009)
AJNR Am J Neuroradiol
, vol.30
, pp. 947-952
-
-
Mamere, A.E.1
Saraiva, L.A.2
Matos, A.L.3
Carneiro, A.A.4
Santos, A.C.5
-
26
-
-
0030678474
-
Performance of the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) in multicenter clinical trials
-
J.M. Cedarbaum, and N. Stambler Performance of the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) in multicenter clinical trials J Neurol Sci 152 Suppl. 1 1997 S1 S9
-
(1997)
J Neurol Sci
, vol.152
, Issue.SUPPL. 1
-
-
Cedarbaum, J.M.1
Stambler, N.2
-
27
-
-
0001473673
-
Pelizaeus-Merzbacher disease
-
P.J. Vinken, G.W. Bruyn, North Holland Publishing Co. Amsterdam
-
F. Seitelberger Pelizaeus-Merzbacher disease P.J. Vinken, G.W. Bruyn, Handbook of clinical neurology 10 1970 North Holland Publishing Co. Amsterdam 150 220
-
(1970)
Handbook of Clinical Neurology
, vol.10
, pp. 150-220
-
-
Seitelberger, F.1
-
28
-
-
0029145584
-
Neuropathology and genetics of Pelizaeus-Merzbacher disease
-
F. Seitelberger Neuropathology and genetics of Pelizaeus-Merzbacher disease Brain Pathol 5 1995 267 273
-
(1995)
Brain Pathol
, vol.5
, pp. 267-273
-
-
Seitelberger, F.1
-
29
-
-
0001457110
-
Pelizaeus-Merzbacher disease
-
H.W. Moser, Handbook of clinical neurology Elsevier Science Amsterdam
-
F. Seitelberger, S. Urbanits, and K.-A. Nave Pelizaeus-Merzbacher disease H.W. Moser, Neurodystrophies and neurolipidoses Handbook of clinical neurology 22 (66) 1996 Elsevier Science Amsterdam 559 579
-
(1996)
Neurodystrophies and Neurolipidoses
, vol.2266
, pp. 559-579
-
-
Seitelberger, F.1
Urbanits, S.2
Nave, K.-A.3
-
30
-
-
69949177941
-
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1
-
A.A. Sima, C.R. Pierson, R.L. Woltjer, G.M. Hobson, J.A. Golden, and W.J. Kupsky Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1 Acta Neuropathol 118 2009 531 539
-
(2009)
Acta Neuropathol
, vol.118
, pp. 531-539
-
-
Sima, A.A.1
Pierson, C.R.2
Woltjer, R.L.3
Hobson, G.M.4
Golden, J.A.5
Kupsky, W.J.6
-
31
-
-
0034065232
-
On the molecular architecture of myelinated fibers
-
E.J. Arroyo, and S.S. Scherer On the molecular architecture of myelinated fibers Histochem Cell Biol 113 2000 1 18
-
(2000)
Histochem Cell Biol
, vol.113
, pp. 1-18
-
-
Arroyo, E.J.1
Scherer, S.S.2
-
32
-
-
0035066639
-
Biology of oligodendrocyte and myelin in the mammalian central nervous system
-
N. Baumann, and D. Pham-Dinh Biology of oligodendrocyte and myelin in the mammalian central nervous system Physiol Rev 81 2001 871 927
-
(2001)
Physiol Rev
, vol.81
, pp. 871-927
-
-
Baumann, N.1
Pham-Dinh, D.2
-
33
-
-
84888135109
-
Axonal pathology in proteolipid protein deficient mice
-
J.M. Edgar, M. McLaughlin, M. McCulloch, J.A. Barrie, S.C. Zhang, and I.D. Duncan Axonal pathology in proteolipid protein deficient mice J Neurochem 85 2003 97
-
(2003)
J Neurochem
, vol.85
, pp. 97
-
-
Edgar, J.M.1
McLaughlin, M.2
McCulloch, M.3
Barrie, J.A.4
Zhang, S.C.5
Duncan, I.D.6
-
34
-
-
77958457229
-
Increased Plp1 gene expression leads to massive microglial cell activation and inflammation throughout the brain
-
C.L. Tatar, S. Appikatla, D.A. Bessert, A.S. Paintlia, I. Singh, and R.P. Skoff Increased Plp1 gene expression leads to massive microglial cell activation and inflammation throughout the brain ASN Neuro 2 2010 e00043
-
(2010)
ASN Neuro
, vol.2
, pp. 00043
-
-
Tatar, C.L.1
Appikatla, S.2
Bessert, D.A.3
Paintlia, A.S.4
Singh, I.5
Skoff, R.P.6
-
35
-
-
13444280306
-
The PLP mutants from mouse to man
-
I.D. Duncan The PLP mutants from mouse to man J Neurol Sci 228 15 2005 204 205
-
(2005)
J Neurol Sci
, vol.228
, pp. 204-205
-
-
Duncan, I.D.1
-
36
-
-
0024585529
-
Myelination in the jimpy mouse in the absence of proteolipid protein
-
I.D. Duncan, J.P. Hammang, S. Goda, and R.H. Quarles Myelination in the jimpy mouse in the absence of proteolipid protein Glia 2 1989 148 154
-
(1989)
Glia
, vol.2
, pp. 148-154
-
-
Duncan, I.D.1
Hammang, J.P.2
Goda, S.3
Quarles, R.H.4
-
37
-
-
34147204702
-
Astrocytic hypertrophy in dysmyelination influences the diffusion anisotropy of white matter
-
L.A. Harsan, P. Poulet, B. Guignard, N. Parizel, R.P. Skoff, and M.S. Ghandour Astrocytic hypertrophy in dysmyelination influences the diffusion anisotropy of white matter J Neurosci Res 85 2007 935 944
-
(2007)
J Neurosci Res
, vol.85
, pp. 935-944
-
-
Harsan, L.A.1
Poulet, P.2
Guignard, B.3
Parizel, N.4
Skoff, R.P.5
Ghandour, M.S.6
-
38
-
-
0032486428
-
Axonal swellings and degeneration in mice lacking the major proteolipid of myelin
-
I. Griffiths, M. Klugmann, T. Anderson, D. Yool, C. Thomson, and M.H. Schwab Axonal swellings and degeneration in mice lacking the major proteolipid of myelin Science 280 1998 1610 1613
-
(1998)
Science
, vol.280
, pp. 1610-1613
-
-
Griffiths, I.1
Klugmann, M.2
Anderson, T.3
Yool, D.4
Thomson, C.5
Schwab, M.H.6
-
39
-
-
0023036672
-
Pelizaeus-Merzbacher disease: Clinical and nosological study
-
J. Boulloche, and J. Aicardi Pelizaeus-Merzbacher disease: clinical and nosological study J Child Neurol 1 1986 233 239
-
(1986)
J Child Neurol
, vol.1
, pp. 233-239
-
-
Boulloche, J.1
Aicardi, J.2
|