A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

Autor: Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel

Publikováno v: In The American Journal of Human Genetics 6 July 2017 101(1):87-103

Systematic review and meta‐analysis on the association between chronic low back pain and cognitive function.

Autor: Pereira Nery, Ellen C. H., Rocha, Nelson P., Cruz, Vitor T., Silva, Anabela G.

Publikováno v: Pain Practice; Apr2023, Vol. 23 Issue 4, p399-408, 10p, 1 Diagram, 4 Charts

Prevalence and pattern of cognitive impairment in rural and urban populations from Northern Portugal

Autor: Roriz Jose M, Cruz Vitor T, Silva Ricardo D, Nunes Belina, Pais Joana, Silva Maria C

Publikováno v: BMC Neurology, Vol 10, Iss 1, p 42 (2010)

Abstract Background Despite worldwide recognition of the burden of dementia, no epidemiological data is yet available in Portugal. The objective of this study is to estimate the prevalence and describe the pattern of cognitive impairment with dementi

Externí odkaz: https://doaj.org/article/4a13e91733054de68d597ae0bf0bd5a3

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Autor: Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C.

Publikováno v: 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

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf7945c57ed1d41b6e14833120c532f
http://hdl.handle.net/11365/23934

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.