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Results: 1-7 |
Results: 7
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
Authors: Brenner, M Johnson, AB Boespflug-Tanguy, O Rodriguez, D Goldman, JE Messing, A
Citation: M. Brenner et al., Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease, NAT GENET, 27(1), 2001, pp. 117-120
The SOX10 transcription factor: evaluation as a candidate gene for centraland peripheral hereditary myelin disorders
Authors: Pingault, V Bondurand, N Le Caignec, C Tardieu, S Lemort, N Dubourg, O Le Guern, E Goossens, M Boespflug-Tanguy, O
Citation: V. Pingault et al., The SOX10 transcription factor: evaluation as a candidate gene for centraland peripheral hereditary myelin disorders, J NEUROL, 248(6), 2001, pp. 496-499
Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
Authors: Francalanci, P Eymard-Pierre, E Dionisi-Vici, C Boldrini, R Piemonte, F Virgili, R Fariello, G Bosman, C Santorelli, FM Boespflug-Tanguy, O Bertini, E
Citation: P. Francalanci et al., Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27, NEUROLOGY, 57(2), 2001, pp. 265-270
Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations
Authors: Bonavita, S Schiffmann, R Moore, DF Frei, K Choi, B Patronas, N Virta, A Boespflug-Tanguy, O Tedeschi, G
Citation: S. Bonavita et al., Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations, NEUROLOGY, 56(6), 2001, pp. 785-788
Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation
Authors: Rodriguez, D Gauthier, F Bertini, E Bugiani, M Brenner, M N'guyen, S Goizet, C Gelot, A Surtees, R Pedespan, JM Hernandorena, X Troncoso, M Uziel, G Messing, A Ponsot, G Pham-Dinh, D Dautigny, A Boespflug-Tanguy, O
Citation: D. Rodriguez et al., Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation, AM J HU GEN, 69(5), 2001, pp. 1134-1140
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
Authors: Cailloux, F Gauthier-Barichard, F Mimault, C Isabelle, V Courtois, V Giraud, G Dastugue, B Boespflug-Tanguy, O
Citation: F. Cailloux et al., Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations, EUR J HUM G, 8(11), 2000, pp. 837-845
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not
Authors: Mimault, C Giraud, G Courtois, V Cailloux, F Boire, JY Dastugue, B Boespflug-Tanguy, O
Citation: C. Mimault et al., Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not, AM J HU GEN, 65(2), 1999, pp. 360-369
Risultati: 1-7 |