-
1
-
-
0028142316
-
Genetic homogeneity of Pelizaeus-Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group
-
Boesflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, Dinh DP, Dastugue B, Dautigny A (1994) Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet 55:461-467
-
(1994)
Am J Hum Genet
, vol.55
, pp. 461-467
-
-
Boesflug-Tanguy, O.1
Mimault, C.2
Melki, J.3
Cavagna, A.4
Giraud, G.5
Dinh, D.P.6
Dastugue, B.7
Dautigny, A.8
-
2
-
-
0023036672
-
Pelizaeus-Merzbacher disease: Clinical and nosological study
-
Boulloche J, Aicardi J (1986) Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1:233-239
-
(1986)
J Child Neurol
, vol.1
, pp. 233-239
-
-
Boulloche, J.1
Aicardi, J.2
-
3
-
-
0029155690
-
Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease
-
Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG (1995) Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 38:610-617
-
(1995)
Ann Neurol
, vol.38
, pp. 610-617
-
-
Carango, P.1
Funanage, V.L.2
Quirós, R.E.3
Debruyn, C.S.4
Marks, H.G.5
-
4
-
-
0342713709
-
Pelizaeus-Merzbacher disease - Report of a sporadic adult case
-
Fujisawa K, Yamamoto T, Shiraki H, Abe H (1970) Pelizaeus-Merzbacher disease - Report of a sporadic adult case. Adv Neurol Sci 14:367-378
-
(1970)
Adv Neurol Sci
, vol.14
, pp. 367-378
-
-
Fujisawa, K.1
Yamamoto, T.2
Shiraki, H.3
Abe, H.4
-
5
-
-
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 (1989) 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 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
-
7
-
-
0029980998
-
A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
-
Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Kimura S, Yamada Y, Kosaka K (1996) A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59: 32-39
-
(1996)
Am J Hum Genet
, vol.59
, pp. 32-39
-
-
Inoue, K.1
Osaka, H.2
Sugiyama, N.3
Kawanishi, C.4
Onishi, H.5
Nezu, A.6
Kimura, K.7
Kimura, S.8
Yamada, Y.9
Kosaka, K.10
-
8
-
-
0027394845
-
A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
-
Iwaki A, Muramoto T, Iwaki T, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y (1993) A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 2: 19-22
-
(1993)
Hum Mol Genet
, vol.2
, pp. 19-22
-
-
Iwaki, A.1
Muramoto, T.2
Iwaki, T.3
Furumi, H.4
Dario-DeLeon, M.L.5
Tateishi, J.6
Fukumaki, Y.7
-
9
-
-
0016415595
-
An autopsy case of classical Pelizaeus-Merzbacher disease
-
Berl
-
Konishi Y, Kamoshita S (1975) An autopsy case of classical Pelizaeus-Merzbacher disease. Acta Neuropathol (Berl) 31 : 267-270
-
(1975)
Acta Neuropathol
, vol.31
, pp. 267-270
-
-
Konishi, Y.1
Kamoshita, S.2
-
10
-
-
0030869978
-
Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq
-
Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG (1997) Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 49: 824-832
-
(1997)
Neurology
, vol.49
, pp. 824-832
-
-
Lazzarini, A.1
Schwarz, K.O.2
Jiang, S.3
Stenroos, E.S.4
Lehner, T.5
Johnson, W.G.6
-
11
-
-
0007208587
-
Diffuse sclerosis with preserved myelin islands
-
Löwenberg K, Hill TS (1933) Diffuse sclerosis with preserved myelin islands. Arch Neurol Psychiatry 29: 1232-1245
-
(1933)
Arch Neurol Psychiatry
, vol.29
, pp. 1232-1245
-
-
Löwenberg, K.1
Hill, T.S.2
-
12
-
-
0030773792
-
The pathology of oligodendrocyte
-
Ludwin SK (1997) The pathology of oligodendrocyte. J Neuropathol Exp Neurol 56: 111-124
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, pp. 111-124
-
-
Ludwin, S.K.1
-
13
-
-
52449138850
-
Eine eigenartige familiar erkrankungsform (aplasia axialis extracorticalis congenita)
-
Merzbacher L (1910) Eine eigenartige familiar Erkrankungsform (Aplasia axialis extracorticalis congenita). Z Ges Neurol Psychiatr 3: 1-138
-
(1910)
Z Ges Neurol Psychiatr
, vol.3
, pp. 1-138
-
-
Merzbacher, L.1
-
14
-
-
0022633840
-
Pelizaeus-Merzbacher disease in a brother and sister
-
Berl
-
Pamphlett, Silberstein P (1986) Pelizaeus-Merzbacher disease in a brother and sister. Acta Neuropathol (Berl) 69:343-346
-
(1986)
Acta Neuropathol
, vol.69
, pp. 343-346
-
-
Pamphlett1
Silberstein, P.2
-
15
-
-
34250558979
-
Über eine eigenthumliche form spastischer lähmung mit cerebralerscheinungen auf hereditärer grundlage (multiple sklerose)
-
Pelizaeus F (1885) Über eine eigenthumliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (Multiple Sklerose). Arch Psychiat Nervenkr 16: 689-710
-
(1885)
Arch Psychiat Nervenkr
, vol.16
, pp. 689-710
-
-
Pelizaeus, F.1
-
16
-
-
0027246291
-
An adult case of classical Pelizaeus-Merzbacher disease -Magnetic resonance images and neuropathological findings
-
Tokyo
-
Saito Y, Ando T, Doyu M, Takahashi A, Hashizume Y (1993) An adult case of classical Pelizaeus-Merzbacher disease -Magnetic resonance images and neuropathological findings. Clin Neurol (Tokyo) 33: 187-193
-
(1993)
Clin Neurol
, vol.33
, pp. 187-193
-
-
Saito, Y.1
Ando, T.2
Doyu, M.3
Takahashi, A.4
Hashizume, Y.5
-
17
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are alleic disorders at the proteolipid protein locus
-
Saugier-Veber P, Munnich A, Bominique D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are alleic disorders at the proteolipid protein locus. Nat Genet 6: 257-262
-
(1994)
Nat Genet
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bominique, D.3
Rozet, J.M.4
Le Merrer, M.5
Gil, R.6
Boespflug-Tanguy, O.7
-
18
-
-
0001473673
-
Pelizaeus-Merzbacher disease
-
Seitelberger F (1970) Pelizaeus-Merzbacher disease. Handb Clin Neurol 10: 150-202
-
(1970)
Handb Clin Neurol
, vol.10
, pp. 150-202
-
-
Seitelberger, F.1
-
19
-
-
0029145584
-
Neuropathology and genetics of Pelizaeus-Merzbacher disease
-
Seiterberger F (1995) Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 5: 267-273
-
(1995)
Brain Pathol
, vol.5
, pp. 267-273
-
-
Seiterberger, F.1
-
20
-
-
0023927378
-
Magnetic resonance imaging in Pelizaeus-Merzbacher disease
-
Shimomura C, Matsui A, Choh H, Funahashi M, Suzuki Y, Tsuchiya K (1988) Magnetic resonance imaging in Pelizaeus-Merzbacher disease. Pediatr Neurol 4: 124-125
-
(1988)
Pediatr Neurol
, vol.4
, pp. 124-125
-
-
Shimomura, C.1
Matsui, A.2
Choh, H.3
Funahashi, M.4
Suzuki, Y.5
Tsuchiya, K.6
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