-
1
-
-
0027284253
-
The inherited leukodystrophies: A clinical overview
-
Aicardi J. The inherited leukodystrophies: a clinical overview. J Inher Metab Dis 1993; 16: 733-43.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 733-743
-
-
Aicardi, J.1
-
2
-
-
0023036672
-
Pelizaeus-Merzbacher disease: Clinical and nosological study
-
Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986; 1: 233-9.
-
(1986)
J Child Neurol
, vol.1
, pp. 233-239
-
-
Boulloche, J.1
Aicardi, J.2
-
3
-
-
0029145584
-
Neuropathology and genetics of Pelizaeus-Merzbacher disease
-
Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathology 1995; 5: 267-73.
-
(1995)
Brain Pathology
, vol.5
, pp. 267-273
-
-
Seitelberger, F.1
-
4
-
-
0029206990
-
Enfermedad de Pelizaeus-Merzbacher connatal simulando una parálisis cerebral infantil espástica
-
Carod J, Prats JM, Garaizar C, Zuaro E. Enfermedad de Pelizaeus-Merzbacher connatal simulando una parálisis cerebral infantil espástica. Neurologia 1995; 10: 57-8.
-
(1995)
Neurologia
, vol.10
, pp. 57-58
-
-
Carod, J.1
Prats, J.M.2
Garaizar, C.3
Zuaro, E.4
-
5
-
-
0033197580
-
Diagnóstico precoz de una forma grave de enfermedad de Pelizaeus-Merzbacher confirmada por el análisis molecular del gen de las proteolipoproteinas
-
López-Pisón J, Muñoz-Albillos A, Moros-Peña M, Medrano-Marina P, Ruiz-Escusol S, Boespflug-Tanguy O. Diagnóstico precoz de una forma grave de enfermedad de Pelizaeus-Merzbacher confirmada por el análisis molecular del gen de las proteolipoproteinas. Rev Neurol 1999; 29: 429-32.
-
(1999)
Rev Neurol
, vol.29
, pp. 429-432
-
-
López-Pisón, J.1
Muñoz-Albillos, A.2
Moros-Peña, M.3
Medrano-Marina, P.4
Ruiz-Escusol, S.5
Boespflug-Tanguy, O.6
-
6
-
-
0032843709
-
The molecular pathogenesis of Pelizaeus-Merzbacher disease
-
Garbern J, Cambi F, Shy M, Kamholz J. The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch Neurol 1999; 56: 1210-4.
-
(1999)
Arch Neurol
, vol.56
, pp. 1210-1214
-
-
Garbern, J.1
Cambi, F.2
Shy, M.3
Kamholz, J.4
-
7
-
-
0026025747
-
A new mutation in the proteolipid protein (PLP) gene in German family with Pelizaeus-Merzbacher disease
-
Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR. A new mutation in the proteolipid protein (PLP) gene in German family with Pelizaeus-Merzbacher disease. Am J Med Genet 1991; 38: 136-9.
-
(1991)
Am J Med Genet
, vol.38
, pp. 136-139
-
-
Pratt, V.M.1
Trofatter, J.A.2
Schinzel, A.3
Dlouhy, S.R.4
-
8
-
-
0030681255
-
Duplication of proteolipid gene: A possible major cause of Pelizaeus-Merzbacher disease
-
Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ. Duplication of proteolipid gene: a possible major cause of Pelizaeus-Merzbacher disease. Pediatr Neurol 1997; 17: 125-8.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 125-128
-
-
Wang, P.J.1
Hwu, W.L.2
Lee, W.T.3
Wang, T.R.4
Shen, Y.Z.5
-
9
-
-
0028142316
-
Genetic homogeneity of Pelizaeus-Merzhacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families
-
Boesppflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, Pham-Dihn D, et al. Genetic homogeneity of Pelizaeus-Merzhacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 1994; 55: 461-7.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 461-467
-
-
Boesppflug-Tanguy, O.1
Mimault, C.2
Melki, J.3
Cavagna, A.4
Giraud, G.5
Pham-Dihn, D.6
-
10
-
-
0031801082
-
Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
-
Sistermans EA, De Coo RFM, De Wijs IJ, Van Oost BA. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 1998; 50: 1749-54.
-
(1998)
Neurology
, vol.50
, pp. 1749-1754
-
-
Sistermans, E.A.1
De Coo, R.F.M.2
De Wijs, I.J.3
Van Oost, B.A.4
-
11
-
-
0002948888
-
Heredodegenerative disorders
-
Aicardi J, ed. London: MacKeith Press
-
Aicardi J. Heredodegenerative disorders. In Aicardi J, ed. Diseases of the nervous system in childhood. 2 ed. London: MacKeith Press; 1998. p. 323-69.
-
(1998)
Diseases of the Nervous System in Childhood. 2 Ed.
, pp. 323-369
-
-
Aicardi, J.1
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