-
1
-
-
34250558979
-
Über eine eigenthümliche Form spastischer Lähmung mit Cerebral erscheinungen auf hereditärer Grundlage (Multiple Sklerose)
-
Pelizaeus F. Über eine eigenthümliche Form spastischer Lähmung mit Cerebral erscheinungen auf hereditärer Grundlage (Multiple Sklerose). Arch Psychiat Nervenkr 1885;16:698-710.
-
(1885)
Arch Psychiat Nervenkr
, vol.16
, pp. 698-710
-
-
Pelizaeus, F.1
-
2
-
-
52449138850
-
Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticolis congenita)
-
Merzbacher L. Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticolis congenita). Z ges Neurol Psychiat 1910;3:1-138.
-
(1910)
Z Ges Neurol Psychiat
, vol.3
, pp. 1-138
-
-
Merzbacher, L.1
-
3
-
-
0001473673
-
Pelizaeus-Merzbacher disease
-
Vinken PJ, Bruyn GW, editors. Amsterdam: North Holland
-
Seitelberger F. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology. Vol. 10. Amsterdam: North Holland 1970;150-202.
-
(1970)
Handbook of Clinical Neurology
, vol.10
, pp. 150-202
-
-
Seitelberger, F.1
-
4
-
-
0023036672
-
Pelizaeus-Merzbacher disease: Clinical and nosological study
-
Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986;1:233-239.
-
(1986)
J Child Neurol
, vol.1
, pp. 233-239
-
-
Boulloche, J.1
Aicardi, J.2
-
5
-
-
0017167047
-
Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease
-
Wilkus RJ, Farrell D. Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease. Neurology 1976; 26:1042-1045.
-
(1976)
Neurology
, vol.26
, pp. 1042-1045
-
-
Wilkus, R.J.1
Farrell, D.2
-
6
-
-
0027244402
-
Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease
-
Apkarian P, Koetsveld-Baart JC, Barth PG. Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease. Arch Neurol 1993;50:981-985.
-
(1993)
Arch Neurol
, vol.50
, pp. 981-985
-
-
Apkarian, P.1
Koetsveld-Baart, J.C.2
Barth, P.G.3
-
7
-
-
0025670087
-
Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease
-
Caro PA, Marks HG. Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease. Magn Reson Imag 1990;8:8128-8131.
-
(1990)
Magn Reson Imag
, vol.8
, pp. 8128-8131
-
-
Caro, P.A.1
Marks, H.G.2
-
8
-
-
0028245266
-
MR diffusion imaging in Pelizaeus-Merzbacher disease
-
Ono J, Harada K, Sakurai K, et al. MR diffusion imaging in Pelizaeus-Merzbacher disease. Brain Dev 1994;16:219-223.
-
(1994)
Brain Dev
, vol.16
, pp. 219-223
-
-
Ono, J.1
Harada, K.2
Sakurai, K.3
-
9
-
-
0000029565
-
Proteins of myelin
-
Morell P, editor. New York: Plenum Press
-
Lees M, Brostoff SL. Proteins of myelin. In: Morell P, editor. Myelin. 2nd ed. New York: Plenum Press 1984;197-224.
-
(1984)
Myelin. 2nd Ed.
, pp. 197-224
-
-
Lees, M.1
Brostoff, S.L.2
-
10
-
-
0022133330
-
Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein
-
Milner RJ, Lai C, Nave K-A, Lenoir D, Ogata J, Sutcliffe JG. Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein. Cell 1985;42:931-939.
-
(1985)
Cell
, vol.42
, pp. 931-939
-
-
Milner, R.J.1
Lai, C.2
Nave, K.-A.3
Lenoir, D.4
Ogata, J.5
Sutcliffe, J.G.6
-
11
-
-
0023389399
-
Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin
-
Nave K-A, Lai C, Bloom FE, Milner RJ. Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci U S A 1987;84:5665-5669.
-
(1987)
Proc Natl Acad Sci U S A
, vol.84
, pp. 5665-5669
-
-
Nave, K.-A.1
Lai, C.2
Bloom, F.E.3
Milner, R.J.4
-
12
-
-
0026132370
-
Major myelin proteolipid: The 4-a-helix topology
-
Popot JL, Pham-Dinh D, Dautigny A. Major myelin proteolipid: the 4-a-helix topology. J Membr Biol 1991;120:233-246.
-
(1991)
J Membr Biol
, vol.120
, pp. 233-246
-
-
Popot, J.L.1
Pham-Dinh, D.2
Dautigny, A.3
-
13
-
-
0026980191
-
Proteolipid protein (PLP) of CNS myelin: Positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP
-
Weimbs T, Stoffel W. Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP. Biochemistry 1992;31:12289-12296.
-
(1992)
Biochemistry
, vol.31
, pp. 12289-12296
-
-
Weimbs, T.1
Stoffel, W.2
-
14
-
-
0024585529
-
Myelination in the jimpy mouse in the absence of proteolipid protein
-
Duncan ID, Hammang JP, Goda S, Quarles RH. Myelination in the jimpy mouse in the absence of proteolipid protein. Glia 1989;2:148-154.
-
(1989)
Glia
, vol.2
, pp. 148-154
-
-
Duncan, I.D.1
Hammang, J.P.2
Goda, S.3
Quarles, R.H.4
-
15
-
-
0027986675
-
Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
-
Boisson D, Stoffel W. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci U S A 1994;91:11709-11713.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 11709-11713
-
-
Boisson, D.1
Stoffel, W.2
-
16
-
-
0023490577
-
Myelin specific proteolipid protein is expressed in myelinating Schwann cells but not incorporated into myelin sheaths
-
Pucket C, Hudson L, Ono K, et al. Myelin specific proteolipid protein is expressed in myelinating Schwann cells but not incorporated into myelin sheaths. J Neurosci Res 1987;18:511-518.
-
(1987)
J Neurosci Res
, vol.18
, pp. 511-518
-
-
Pucket, C.1
Hudson, L.2
Ono, K.3
-
17
-
-
0022409105
-
Assignment of the gene for myelin proteolipid protein to the X chromosome: Implications for X-linked myelin disorders
-
Willard HF, Riordan JR. Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 1985;230:940-942.
-
(1985)
Science
, vol.230
, pp. 940-942
-
-
Willard, H.F.1
Riordan, J.R.2
-
18
-
-
0022543242
-
The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome
-
Mattei MG, Alliel PM, Dautigny A, et al. The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. Hum Genet 1986;72:352-353.
-
(1986)
Hum Genet
, vol.72
, pp. 352-353
-
-
Mattei, M.G.1
Alliel, P.M.2
Dautigny, A.3
-
19
-
-
0023493525
-
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
-
Cremers FPM, Pfeiffer R, van de Pol TJR, et al. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet 1987;77:23-27.
-
(1987)
Hum Genet
, vol.77
, pp. 23-27
-
-
Cremers, F.P.M.1
Pfeiffer, R.2
Van De Pol, T.J.R.3
-
20
-
-
0022860245
-
Individual exons encode the integral membrane domains of human myelin proteolipid protein
-
Diehl H-J, Schaich M, Dudzinski R-M, Stoffel W. Individual exons encode the integral membrane domains of human myelin proteolipid protein. Proc Natl Acad Sci U S A 1986;83: 9807-9811.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 9807-9811
-
-
Diehl, H.-J.1
Schaich, M.2
Dudzinski, R.-M.3
Stoffel, W.4
-
21
-
-
0026011720
-
Proteolipid DM-20 predominates over PLP in peripheral nervous system
-
Pham-Dinh D, Birling MC, Roussel G, Dautigny A, Nussbaum JL. Proteolipid DM-20 predominates over PLP in peripheral nervous system. Neuroreport 1991a;2:89-92.
-
(1991)
Neuroreport
, vol.2
, pp. 89-92
-
-
Pham-Dinh, D.1
Birling, M.C.2
Roussel, G.3
Dautigny, A.4
Nussbaum, J.L.5
-
22
-
-
0026500009
-
DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse
-
Timsit SG, Bally-Cuif L, Colman DR, Zalc B. DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. J Neurochem 1992;58:1172-1175.
-
(1992)
J Neurochem
, vol.58
, pp. 1172-1175
-
-
Timsit, S.G.1
Bally-Cuif, L.2
Colman, D.R.3
Zalc, B.4
-
23
-
-
0026684098
-
Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells
-
Ikenaka K, Kagawa T, Mikoshiba K. Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells. J Neurochem 1992;58:2248-2253.
-
(1992)
J Neurochem
, vol.58
, pp. 2248-2253
-
-
Ikenaka, K.1
Kagawa, T.2
Mikoshiba, K.3
-
24
-
-
0027487979
-
A myelin proteolipid-lacZ, fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice
-
Wight PA, Duchala CS, Readhead C, Macklin WB. A myelin proteolipid-lacZ, fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice. J Cell Biol 1993;123:443-454.
-
(1993)
J Cell Biol
, vol.123
, pp. 443-454
-
-
Wight, P.A.1
Duchala, C.S.2
Readhead, C.3
Macklin, W.B.4
-
25
-
-
0028325902
-
Premature arrest of myelin formation in transgenic mice with increased proteolipoprotein gene dosage
-
Readhead C, Schneider A, Griffiths I, Nave K-A. Premature arrest of myelin formation in transgenic mice with increased proteolipoprotein gene dosage. Neuron 1994;12:583-595.
-
(1994)
Neuron
, vol.12
, pp. 583-595
-
-
Readhead, C.1
Schneider, A.2
Griffiths, I.3
Nave, K.-A.4
-
26
-
-
0028017717
-
A combination of PLP and DM-20 transgenes promotes partial myelination in the jimpy mouse
-
Nadon NL, Arnheiter H, Hudson LD. A combination of PLP and DM-20 transgenes promotes partial myelination in the jimpy mouse. J Neurochem 1994;63:822-833.
-
(1994)
J Neurochem
, vol.63
, pp. 822-833
-
-
Nadon, N.L.1
Arnheiter, H.2
Hudson, L.D.3
-
27
-
-
0028133486
-
Glial cell degeneration and hypomyelination caused by overexpression of the myelin proteolipid protein gene
-
Kagawa T, Ikenaka K, Inoue Y, et al. Glial cell degeneration and hypomyelination caused by overexpression of the myelin proteolipid protein gene. Neuron 1994;13:427-442.
-
(1994)
Neuron
, vol.13
, pp. 427-442
-
-
Kagawa, T.1
Ikenaka, K.2
Inoue, Y.3
-
28
-
-
0027443880
-
Molecular cloning of M6: Identification of a PLP/DM-20 gene family
-
Yan Y, Lagenaur C, Narayanan V. Molecular cloning of M6: identification of a PLP/DM-20 gene family. Neuron 1993;11:423-431.
-
(1993)
Neuron
, vol.11
, pp. 423-431
-
-
Yan, Y.1
Lagenaur, C.2
Narayanan, V.3
-
29
-
-
0027424792
-
A proteolipid protein gene family: Expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptides
-
Kitagawa K, Sinoway MP, Yang C, Gould RM, Colman DR. A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptides. Neuron 1993;11:433-448.
-
(1993)
Neuron
, vol.11
, pp. 433-448
-
-
Kitagawa, K.1
Sinoway, M.P.2
Yang, C.3
Gould, R.M.4
Colman, D.R.5
-
30
-
-
0028122616
-
Neurological mouse mutants and genes of myelin
-
Nave K-A. Neurological mouse mutants and genes of myelin. J Neurosci Res 1994;38:607-612.
-
(1994)
J Neurosci Res
, vol.38
, pp. 607-612
-
-
Nave, K.-A.1
-
31
-
-
37049231008
-
Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system
-
Sidman RL, Dickie, MM, Appel SH. Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system. Science 1964;144:309-311.
-
(1964)
Science
, vol.144
, pp. 309-311
-
-
Sidman, R.L.1
Dickie, M.M.2
Appel, S.H.3
-
32
-
-
0024430148
-
Myelin-deficient rat: A point mutation in exon III (A→C, Thr75→Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death
-
Boison D, Stoffel W. Myelin-deficient rat: a point mutation in exon III (A→C, Thr75→Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death. EMBO J 1989;8:3295-3302.
-
(1989)
EMBO J
, vol.8
, pp. 3295-3302
-
-
Boison, D.1
Stoffel, W.2
-
33
-
-
0025155194
-
A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development
-
Nadon NL, Duncan ID, Hudson LD. A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development 1990;110:529-537.
-
(1990)
Development
, vol.110
, pp. 529-537
-
-
Nadon, N.L.1
Duncan, I.D.2
Hudson, L.D.3
-
34
-
-
0024543355
-
Spinal cord lesions block seizures or delay their onset in myelin-defident rats: Evidence that generalized tonic seizures can be triggered by abnormal spinal cord activity
-
Rosenbluth J, Hasegawa M. Spinal cord lesions block seizures or delay their onset in myelin-defident rats: evidence that generalized tonic seizures can be triggered by abnormal spinal cord activity. Exp Neurol 1989;103:154-157.
-
(1989)
Exp Neurol
, vol.103
, pp. 154-157
-
-
Rosenbluth, J.1
Hasegawa, M.2
-
35
-
-
0024435640
-
Extracellular potassium activity and axonal conduction in spinal cord of the myelin-deficient mutant rat
-
Young W, Rosenbluth J, Wojak JC, Sakatani K. Extracellular potassium activity and axonal conduction in spinal cord of the myelin-deficient mutant rat. Exp Neurol 1989;106:41-51.
-
(1989)
Exp Neurol
, vol.106
, pp. 41-51
-
-
Young, W.1
Rosenbluth, J.2
Wojak, J.C.3
Sakatani, K.4
-
36
-
-
0026650877
-
Conduction properties of spinal cord axons in the myelin-deficient rat mutant
-
Utzschneider D, Black JA, Kocsis JD. Conduction properties of spinal cord axons in the myelin-deficient rat mutant. Neuroscience 1992;49, 221-228.
-
(1992)
Neuroscience
, vol.49
, pp. 221-228
-
-
Utzschneider, D.1
Black, J.A.2
Kocsis, J.D.3
-
37
-
-
0026767888
-
Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene
-
Schneider A, Montague P, Griffiths IR, et al. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 1992;358:758-761.
-
(1992)
Nature
, vol.358
, pp. 758-761
-
-
Schneider, A.1
Montague, P.2
Griffiths, I.R.3
-
38
-
-
0002397825
-
A sex-linked recessive form of spastic paraplegia
-
Johnston AW, MacKusick VA. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 1962;14:83-94.
-
(1962)
Am J Hum Genet
, vol.14
, pp. 83-94
-
-
Johnston, A.W.1
MacKusick, V.A.2
-
39
-
-
0028236505
-
The rumpshaker mutation in spastic paraplegia
-
Kobayashi H, Hoffman E, Marks H. The rumpshaker mutation in spastic paraplegia. Nat Genet 1994;7:351-352.
-
(1994)
Nat Genet
, vol.7
, pp. 351-352
-
-
Kobayashi, H.1
Hoffman, E.2
Marks, H.3
-
40
-
-
0028153163
-
Paralytic tremor (pt): A new allele of the proteolipid protein gene in rabbits
-
Tosic M, Dolivo M, Domanska-Janik K, Matthieu JM. Paralytic tremor (pt): a new allele of the proteolipid protein gene in rabbits. J Neurochem 1994;63:2210-2216.
-
(1994)
J Neurochem
, vol.63
, pp. 2210-2216
-
-
Tosic, M.1
Dolivo, M.2
Domanska-Janik, K.3
Matthieu, J.M.4
-
41
-
-
0026348463
-
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease
-
Raskind WH, Williams CA, Hudson LD, Bird TD. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Med Genet 1991;49:1355-1360.
-
(1991)
Am J Med Genet
, vol.49
, pp. 1355-1360
-
-
Raskind, W.H.1
Williams, C.A.2
Hudson, L.D.3
Bird, T.D.4
-
42
-
-
0022889377
-
jimpy mutant mouse: A 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing
-
Nave K-A, Lai C, Bloom FE, Milner RJ. jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc Natl Acad Sci U S A 1986;83:9264-9268.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 9264-9268
-
-
Nave, K.-A.1
Lai, C.2
Bloom, F.E.3
Milner, R.J.4
-
43
-
-
0013514355
-
Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse
-
Hudson LD, Berndt JA, Puckett C, Kozak CA, Lazzarini RA. Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse. Proc Natl Acad Sci USA 1987;84:1454-1458.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 1454-1458
-
-
Hudson, L.D.1
Berndt, J.A.2
Puckett, C.3
Kozak, C.A.4
Lazzarini, R.A.5
-
45
-
-
0022540450
-
Oligodendroglial cell death in jimpy mice: An explanation for the myelin deficit
-
Knapp PE, Skoff RP, Redstone DW. Oligodendroglial cell death in jimpy mice: an explanation for the myelin deficit. J Neurosci 1986;6:2813-2822.
-
(1986)
J Neurosci
, vol.6
, pp. 2813-2822
-
-
Knapp, P.E.1
Skoff, R.P.2
Redstone, D.W.3
-
46
-
-
0025204596
-
Death of individual oligodendrocytes in jimpy brain precedes expression of proteolipid protein
-
Vermeesch MK, Knapp PE, Skoff RP, Studzinski DM, Benjamins, JA. Death of individual oligodendrocytes in jimpy brain precedes expression of proteolipid protein. Dev Neurosci 1990;12:303-315.
-
(1990)
Dev Neurosci
, vol.12
, pp. 303-315
-
-
Vermeesch, M.K.1
Knapp, P.E.2
Skoff, R.P.3
Studzinski, D.M.4
Benjamins, J.A.5
-
47
-
-
0019979626
-
Increased proliferation of oligodendrocytes in the hypomyelinated mouse mutant-jimpy
-
Skoff RP. Increased proliferation of oligodendrocytes in the hypomyelinated mouse mutant-jimpy. Brain Res 1982;248:19-31.
-
(1982)
Brain Res
, vol.248
, pp. 19-31
-
-
Skoff, R.P.1
-
48
-
-
0023241526
-
A defect in the cell cycle of neuroglia in the myelin deficient jimpy mouse
-
Knapp PE, Skoff RP. A defect in the cell cycle of neuroglia in the myelin deficient jimpy mouse. Dev Brain Res 1987;35:301-306.
-
(1987)
Dev Brain Res
, vol.35
, pp. 301-306
-
-
Knapp, P.E.1
Skoff, R.P.2
-
50
-
-
0027992133
-
Contribution of transplantations to the understanding of the role of the PLP gene
-
Lachapelle F, Gumpel M, Baumann N. Contribution of transplantations to the understanding of the role of the PLP gene. Neurochem Res 1994;19:1083-1090.
-
(1994)
Neurochem Res
, vol.19
, pp. 1083-1090
-
-
Lachapelle, F.1
Gumpel, M.2
Baumann, N.3
-
51
-
-
0024234379
-
Glial conditioned medium enables jimpy oligodendrocytes to express properties of normal oligodendrocytes: Production of myelin antigens and membranes
-
Bartlett WP, Knapp PE, Skoff RP. Glial conditioned medium enables jimpy oligodendrocytes to express properties of normal oligodendrocytes: production of myelin antigens and membranes. Glia 1988;1:253-259.
-
(1988)
Glia
, vol.1
, pp. 253-259
-
-
Bartlett, W.P.1
Knapp, P.E.2
Skoff, R.P.3
-
52
-
-
0028226949
-
Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport
-
Gow A, Friedrich VL, Lazzarini RA. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 1994;37:574-583.
-
(1994)
J Neurosci Res
, vol.37
, pp. 574-583
-
-
Gow, A.1
Friedrich, V.L.2
Lazzarini, R.A.3
-
53
-
-
3042909761
-
Dominant-negative action of mutations in the PLP/DM-20 gene and direct interaction of PLP polypeptides in vivo
-
Jung M, Schneider A, Nave KA. Dominant-negative action of mutations in the PLP/DM-20 gene and direct interaction of PLP polypeptides in vivo. J Neurochem 1995;64:5101.
-
(1995)
J Neurochem
, vol.64
, pp. 5101
-
-
Jung, M.1
Schneider, A.2
Nave, K.A.3
-
54
-
-
0029079396
-
Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein
-
Schneider A, Griffiths IR, Readhead C, Nave K-A. Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc Natl Acad Sci U S A 1995;92:4447-4451.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 4447-4451
-
-
Schneider, A.1
Griffiths, I.R.2
Readhead, C.3
Nave, K.-A.4
-
55
-
-
0028893387
-
Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice
-
Simons-Johnson R, Roder JC, Riordan JR. Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice. J Neurochem 1995;64:967-976.
-
(1995)
J Neurochem
, vol.64
, pp. 967-976
-
-
Simons-Johnson, R.1
Roder, J.C.2
Riordan, J.R.3
-
57
-
-
0023153460
-
Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacber disease
-
Koeppen AH, Ronca NA, Greenfield EA, Hans MB. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacber disease. Ann Neurol 1987;21:159-170.
-
(1987)
Ann Neurol
, vol.21
, pp. 159-170
-
-
Koeppen, A.H.1
Ronca, N.A.2
Greenfield, E.A.3
Hans, M.B.4
-
58
-
-
0027523067
-
Pelizaeus-Merzbacher disease: A frameshift deletion/insertion event in the myelin proteolipid gene
-
Pham-Dinh D, Boespflug-Tanguy O, Mimault C, et al. Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene. Hum Mol Genet 1993;4:465-467.
-
(1993)
Hum Mol Genet
, vol.4
, pp. 465-467
-
-
Pham-Dinh, D.1
Boespflug-Tanguy, O.2
Mimault, C.3
-
59
-
-
0028945163
-
In-frame deletion in the proteolipid protein gene in a family with Pelizaeus-Merzbacher disease
-
Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME. In-frame deletion in the proteolipid protein gene in a family with Pelizaeus-Merzbacher disease. Am J Med Genet 1995;55:405-407.
-
(1995)
Am J Med Genet
, vol.55
, pp. 405-407
-
-
Kleindorfer, D.O.1
Dlouhy, S.R.2
Pratt, V.M.3
Jones, M.C.4
Trofatter, J.A.5
Hodes, M.E.6
-
60
-
-
3042991804
-
The role of proteolipid protein in gene mutations in Pelizaeus-Merzbacher disease
-
Bridge PJ, Wilkins PJ. The role of proteolipid protein in gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;209:823.
-
(1992)
Am J Hum Genet
, vol.209
, pp. 823
-
-
Bridge, P.J.1
Wilkins, P.J.2
-
61
-
-
0028240173
-
Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
-
Ellis D, Malcom S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334.
-
(1994)
Nat Genet
, vol.6
, pp. 333-334
-
-
Ellis, D.1
Malcom, S.2
-
63
-
-
0024330420
-
Mutation of the proteolipid protein gene (PLP) in a human X chromosome-linked disorder
-
Hudson LD, Puckett C, Berndt J, Chan J, Gencic S. Mutation of the proteolipid protein gene (PLP) in a human X chromosome-linked disorder. Proc Natl Acad Sci USA 1989;86:8128-8131.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8128-8131
-
-
Hudson, L.D.1
Puckett, C.2
Berndt, J.3
Chan, J.4
Gencic, S.5
-
64
-
-
0028142316
-
Genetic homogeneity of Pelizaeus-Merzbacher Disease (PMD): Tight linkage to the proteolipoprotein (PLP) locus in 16 affected families
-
Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Pelizaeus-Merzbacher Disease (PMD): tight linkage to the proteolipoprotein (PLP) locus in 16 affected families Am J Hum Genet 1994;55:461-467.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 461-467
-
-
Boespflug-Tanguy, O.1
Mimault, C.2
Melki, J.3
-
65
-
-
0028241952
-
X-linked spastic paraplegia (SPG1), Masa syndrome and X-linked hydrocephalus result from mutations in the L1. gene
-
Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), Masa syndrome and X-linked hydrocephalus result from mutations in the L1. gene. Nat Genet 1994;7:402-407.
-
(1994)
Nat Genet
, vol.7
, pp. 402-407
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
-
66
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-261.
-
(1994)
Nat Genet
, vol.6
, pp. 257-261
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
-
67
-
-
0024392732
-
Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant
-
Trofatter JA, Dlouhy SR, DeMeyer W, Coneally PM, Hodes ME. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 1989;86:9427-9430.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9427-9430
-
-
Trofatter, J.A.1
Dlouhy, S.R.2
DeMeyer, W.3
Coneally, P.M.4
Hodes, M.E.5
-
69
-
-
0026736138
-
Molecular diagnostics for myelin proteolipid gene mutations in Pelizaeus-Merzbacher disease
-
Doll R, Natowicz MR, Schiffmann R, Smith FI. Molecular diagnostics for myelin proteolipid gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;51:161-169.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 161-169
-
-
Doll, R.1
Natowicz, M.R.2
Schiffmann, R.3
Smith, F.I.4
-
70
-
-
3042914875
-
Adult onset neurological disorder in Pelizaeus-Merzbacher disease carrier mother
-
Nance MA, Pratt VM, Boyadjiev S, Hodes ME. Adult onset neurological disorder in Pelizaeus-Merzbacher disease carrier mother. Abstract. Am J Hum Genet 1993;53:1745.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1745
-
-
Nance, M.A.1
Pratt, V.M.2
Boyadjiev, S.3
Hodes, M.E.4
-
71
-
-
0028859889
-
A novel mutation in exon 3. of the proteolipid protein gene in Pelizaeus-Merzbacher disease
-
Pratt VM, Naidu S, Dlouhy SR, Marks HG, Hodes ME. A novel mutation in exon 3. of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 1995a;45:394-395.
-
(1995)
Neurology
, vol.45
, pp. 394-395
-
-
Pratt, V.M.1
Naidu, S.2
Dlouhy, S.R.3
Marks, H.G.4
Hodes, M.E.5
-
72
-
-
0025608178
-
A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis
-
Weimbs T, Dick T, Stoffel W, Boltshauser E. A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. Biol Chem Hoppe Seyler 1990;371:1175-1183.
-
(1990)
Biol Chem Hoppe Seyler
, vol.371
, pp. 1175-1183
-
-
Weimbs, T.1
Dick, T.2
Stoffel, W.3
Boltshauser, E.4
-
73
-
-
0027454286
-
Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred
-
Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. Am J Med Genet 1993;52:1053-1056.
-
(1993)
Am J Med Genet
, vol.52
, pp. 1053-1056
-
-
Pratt, V.M.1
Kiefer, J.R.2
Lähdetie, J.3
Schleutker, J.4
Hodes, M.E.5
Dlouhy, S.R.6
-
75
-
-
3042946860
-
206-Cys mutation in the proteolipid protein causes Pelizaeus-Merzbacher disease
-
206-Cys mutation in the proteolipid protein causes Pelizaeus-Merzbacher disease. Am J Hum Genet 1991;972:183.
-
(1991)
Am J Hum Genet
, vol.972
, pp. 183
-
-
Bridge, P.J.1
D'Souza, C.R.2
Van Oost, B.A.3
-
76
-
-
0024419974
-
Pelizaeus-Merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
-
Gencic S, Abuelo D, Ambler M, Hudson LD. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 1989;45:435-442.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 435-442
-
-
Gencic, S.1
Abuelo, D.2
Ambler, M.3
Hudson, L.D.4
-
77
-
-
0028954678
-
Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5. of the proteolipid protein gene
-
Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, DerKaloustian VM, Hodes ME. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5. of the proteolipid protein gene. Am J Med Genet 1995b;55:402-404.
-
(1995)
Am J Med Genet
, vol.55
, pp. 402-404
-
-
Pratt, V.M.1
Boyadjiev, S.2
Dlouhy, S.R.3
Silver, K.4
DerKaloustian, V.M.5
Hodes, M.E.6
-
78
-
-
0025745185
-
Pelizaeus-Merzbacher disease: A valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
-
Pham-Dinh D, Popot JL, Boespflug-Tanguy O, et al. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci U S A 1991b;88:7562-7566.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 7562-7566
-
-
Pham-Dinh, D.1
Popot, J.L.2
Boespflug-Tanguy, O.3
-
79
-
-
0027394845
-
A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
-
Iwaki A, Muramoto T, Iwaki T, et al. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 1993;2:19-22.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 19-22
-
-
Iwaki, A.1
Muramoto, T.2
Iwaki, T.3
-
80
-
-
0027762661
-
A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease
-
Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Hum Mol Genet 1993;2:2187-2189.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2187-2189
-
-
Kurosawa, K.1
Iwaki, A.2
Miyake, S.3
Imaizumi, K.4
Kuroki, Y.5
Fukumaki, Y.6
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