Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
- Resource Type
- Source
- neurogenetics
neurogenetics, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Neurogenetics, 7(3), 149-156. Springer Verlag
neurogenetics, Springer Verlag, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Stevanin, G, Montagna, G, Azzedine, H, Valente, E M, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P S, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, A M O, De Michele, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, Van Der Knapp, M S, Neri, M, Tonekaboni, H, Melone, M A B, Tessa, A, Dotti, M T, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, V T, Loureiro, J L, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A & Santorelli, F M 2006, ' Spastic paraplegia with thin corpus callosum : Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity ', Neurogenetics, vol. 7, no. 3, pp. 149-156 . https://doi.org/10.1007/s10048-006-0044-2 - Subject
Male Candidate gene Genetic Linkage Corpus Callosum Consanguinity Autosomal recessive hereditary spastic Genetic heterogeneity 0302 clinical medicine MESH: Child Spastic Paraplegia Autosomal recessive hereditary spastic paraplegia Linkage SPG11 Thin corpus callosum Adolescent Child Child, Preschool Chromosomes, Human, Pair 15 Female Humans Infant Lod Score Pedigree Phenotype Spastic Paraplegia, Hereditary Genes, Recessive Genetic Heterogeneity Genetics Genetics (clinical) Cellular and Molecular Neuroscience 0303 health sciences MESH: Spastic Paraplegia, Hereditary MESH: Genetic Heterogeneity MESH: Infant autosomal recessive hereditary spastic paraplegia genetic heterogeneity linkage spg11 thin corpus callosum Hereditary Settore MED/26 - Neurologia [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Human Hereditary spastic paraplegia MESH: Pedigree Locus (genetics) Biology MESH: Phenotype MESH: Corpus Callosum Chromosomes 03 medical and health sciences Gene mapping Genetic linkage medicine Recessive Preschool MESH: Genes, Recessive 030304 developmental biology MESH: Adolescent MESH: Consanguinity Autosome MESH: Humans Thin corpus callosum, SPG11, Linkage Haplotype MESH: Child, Preschool Pair 15 medicine.disease MESH: Male Genes MESH: Lod Score MESH: Linkage (Genetics) MESH: Female 030217 neurology & neurosurgery MESH: Chromosomes, Human, Pair 15 - Language
- English
- ISSN
- 1364-6745
1364-6753