-
1
-
-
34250558979
-
Über eine eigentümliche form spastischer Lähmung mit Zerebralerscheinungen auf hereditärer Grundlage (multiple Sklerose)
-
Pelizaeus F. Über eine eigentümliche Form spastischer Lähmung mit Zerebralerscheinungen auf hereditärer Grundlage (multiple Sklerose). Arch Psychiatr Nervenkr 1885; 16: 689-710.
-
(1885)
Arch Psychiatr Nervenkr
, vol.16
, pp. 689-710
-
-
Pelizaeus, F.1
-
2
-
-
0023153460
-
Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease
-
Koeppen AH, Ronca NA, Greenfield EA et al. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol 1987; 21: 159-70.
-
(1987)
Ann Neurol
, vol.21
, pp. 159-170
-
-
Koeppen, A.H.1
Ronca, N.A.2
Greenfield, E.A.3
-
3
-
-
0024392732
-
Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant
-
Trofatter JA, Dlouhy SR, DeMyer W et al. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 1989; 86: 9427-30.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9427-9430
-
-
Trofatter, J.A.1
Dlouhy, S.R.2
DeMyer, W.3
-
4
-
-
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 et al. 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: 435-42.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 435-442
-
-
Gencic, S.1
Abuelo, D.2
Ambler, M.3
-
5
-
-
0024330420
-
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
-
Hudson LD, Puckett C, Berndt J et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 1989; 86: 8128-31.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8128-8131
-
-
Hudson, L.D.1
Puckett, C.2
Berndt, J.3
-
6
-
-
0028142316
-
Genetic homogeneity of Pelizaeus-Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families
-
PMD Clinical Group
-
Boespflug TO, Mimault C, Melki J et al. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet 1994; 55: 461-7.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 461-467
-
-
Boespflug, T.O.1
Mimault, C.2
Melki, J.3
-
8
-
-
0013779978
-
Etude anatomoclinique d'un cas de maladie de Pelizaeus-Merzbacher
-
Garcin R, Lapresle J, Berger B. Etude anatomoclinique d'un cas de maladie de Pelizaeus-Merzbacher. Rev Neurol 1965; 112: 449-66.
-
(1965)
Rev Neurol
, vol.112
, pp. 449-466
-
-
Garcin, R.1
Lapresle, J.2
Berger, B.3
-
10
-
-
0016415595
-
An autopsy case of classical Pelizaeus-Merzbacher's disease
-
Konishi Y, Kamoshita S. An autopsy case of classical Pelizaeus-Merzbacher's disease. Acta Neuropathol 1975; 31: 267-70.
-
(1975)
Acta Neuropathol
, vol.31
, pp. 267-270
-
-
Konishi, Y.1
Kamoshita, S.2
-
11
-
-
0022633840
-
Pelizaeus-Merzbacher disease in a brother and sister
-
Pamphlett R, Silberstein P. Pelizaeus-Merzbacher disease in a brother and sister. Acta Neuropathol (Berl) 1986; 69: 343-6.
-
(1986)
Acta Neuropathol (Berl)
, vol.69
, pp. 343-346
-
-
Pamphlett, R.1
Silberstein, P.2
-
12
-
-
0027166065
-
A girl presenting clinical and neuroimagings on MRI compatible with Pelizaeus-Mertzbacher disease
-
Ono J, Tanaka J, Kodaka R. A girl presenting clinical and neuroimagings on MRI compatible with Pelizaeus-Mertzbacher disease (in Japanese). No to Hattatsu (Tokyo) 1993; 25: 347-51.
-
(1993)
No to Hattatsu (Tokyo)
, vol.25
, pp. 347-351
-
-
Ono, J.1
Tanaka, J.2
Kodaka, R.3
-
13
-
-
0023801968
-
Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba
-
Black DN, Booth F, Watters GV et al. Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol 1988; 24: 490-6.
-
(1988)
Ann Neurol
, vol.24
, pp. 490-496
-
-
Black, D.N.1
Booth, F.2
Watters, G.V.3
-
14
-
-
0024536480
-
Central hypomyelination associated with congenital hypomyelinating polyneuropathy: Report of an autopsied case
-
Johnson MD, Glick AD, Whetsell WJ. Central hypomyelination associated with congenital hypomyelinating polyneuropathy: report of an autopsied case. Clin Neuropathol 1989; 8: 28-34.
-
(1989)
Clin Neuropathol
, vol.8
, pp. 28-34
-
-
Johnson, M.D.1
Glick, A.D.2
Whetsell, W.J.3
-
15
-
-
0026033005
-
Delayed central nervous system myelination in the sudden infant death syndrome
-
Kinney HC, Brody BA, Finkelstein DM et al. Delayed central nervous system myelination in the sudden infant death syndrome. J Neuropathol Exp Neurol 1991; 50: 29-48.
-
(1991)
J Neuropathol Exp Neurol
, vol.50
, pp. 29-48
-
-
Kinney, H.C.1
Brody, B.A.2
Finkelstein, D.M.3
-
16
-
-
0001473673
-
Pelizaeus-Merzbacher disease
-
Vinken PJ, Bruyn GW, eds. Amsterdam: North Holland
-
Seitelberger F. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, eds. 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
-
17
-
-
0029065370
-
Neurophysiological study in Pelizaeus-Merzbacher disease
-
Nezu A. Neurophysiological study in Pelizaeus-Merzbacher disease. Brain Dev 1995; 17: 175-81.
-
(1995)
Brain Dev
, vol.17
, pp. 175-181
-
-
Nezu, A.1
-
18
-
-
0024270978
-
Pelizaeus-Merzbacher disease: Identification of heterozygotes with magnetic resonance imaging?
-
Boltshauser E, Schinzel A, Wichmann W et al. Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Hum Genet 1988; 80: 393-4.
-
(1988)
Hum Genet
, vol.80
, pp. 393-394
-
-
Boltshauser, E.1
Schinzel, A.2
Wichmann, W.3
-
19
-
-
0025358179
-
MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease
-
Silverstein AM, Hirsh DK, Trobe JD et al. MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease. AJNR 1990; 11: 495-9.
-
(1990)
AJNR
, vol.11
, pp. 495-499
-
-
Silverstein, A.M.1
Hirsh, D.K.2
Trobe, J.D.3
-
20
-
-
0025887213
-
An X-linked mutation affecting CNS myelination. A study of the female heterozygote
-
Fanarraga ML, Griffiths IR, McCulloch MC et al. An X-linked mutation affecting CNS myelination. A study of the female heterozygote. Neuropathol Appl Neurobiol 1991; 17: 323-34.
-
(1991)
Neuropathol Appl Neurobiol
, vol.17
, pp. 323-334
-
-
Fanarraga, M.L.1
Griffiths, I.R.2
McCulloch, M.C.3
-
21
-
-
0024540920
-
The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease
-
van der Knaap MS, Valk J. The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease. AJNR 1989; 10: 99-103.
-
(1989)
AJNR
, vol.10
, pp. 99-103
-
-
Van Der Knaap, M.S.1
Valk, J.2
-
22
-
-
0027255687
-
Dysmyelinating and demyelinating conditions in infancy
-
Kolodny EH. Dysmyelinating and demyelinating conditions in infancy. Curr Opin Neurol Neurosurg 1993; 6: 379-86.
-
(1993)
Curr Opin Neurol Neurosurg
, vol.6
, pp. 379-386
-
-
Kolodny, E.H.1
-
24
-
-
0028351908
-
Childhood ataxia with diffuse central nervous system hypomyelination
-
Schiffmann R, Moller JR, Trapp BD et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331-40.
-
(1994)
Ann Neurol
, vol.35
, pp. 331-340
-
-
Schiffmann, R.1
Moller, J.R.2
Trapp, B.D.3
-
25
-
-
0019992128
-
Brainstem auditory, visual and somatosensory evoked potentials in leukodystrophies
-
Markand ON, Garg BP, DeMyer WE et al. Brainstem auditory, visual and somatosensory evoked potentials in leukodystrophies. Electroencephalogr Clin Neurophysiol 1982; 54: 39-48.
-
(1982)
Electroencephalogr Clin Neurophysiol
, vol.54
, pp. 39-48
-
-
Markand, O.N.1
Garg, B.P.2
DeMyer, W.E.3
-
26
-
-
0026454907
-
Oculomotor and vestibular anomalies in Pelizaeus-Merzbacher disease: A study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers
-
Huygen PL, Verhagen WI, Renier WO. Oculomotor and vestibular anomalies in Pelizaeus-Merzbacher disease: a study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers. J Neurol Sci 1992; 113: 17-25.
-
(1992)
J Neurol Sci
, vol.113
, pp. 17-25
-
-
Huygen, P.L.1
Verhagen, W.I.2
Renier, W.O.3
-
28
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier VP, 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: 257-62.
-
(1994)
Nat Genet
, vol.6
, pp. 257-262
-
-
Saugier, V.P.1
Munnich, A.2
Bonneau, D.3
|