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Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Autor: Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network

IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::f6b68737324ff67eb7f8a20a311aa1bb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3107432

Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.

Autor: Nielsen, T T¹, Svenstrup, K¹, Duno, M², Nielsen, J E¹

Publikováno v: Spinal Cord. Jan2014, Vol. 52 Issue 1, p77-79. 3p. 1 Chart, 1 Graph.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

Autor: Lindquist, S. G., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L. H., Vestergaard, Karsten, Hjermind, L. E., Stokholm, J., Andersen, B. B., Johannsen, P., Nielsen, J. E.

Publikováno v: Lindquist, S G, Duno, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, L H, Vestergaard, K, Hjermind, L E, Stokholm, J, Andersen, B B, Johannsen, P & Nielsen, J E 2013, ' Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease ', Clinical Genetics, vol. 83, no. 3, pp. 279-283 . https://doi.org/10.1111/j.1399-0004.2012.01903.x
Lindquist, S G, Dunø, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, L H, Vestergaard, K, Hjermind, L E, Stokholm, J, Andersen, B B, Johannsen, P & Nielsen, J E 2013, ' Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease ', Clinical Genetics, vol. 83, no. 3, pp. 279-83 . https://doi.org/10.1111/j.1399-0004.2012.01903.x

Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21-linked frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS). We here report the prevalence of the expansion in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3b07273650dffb06dca1107d188a5b02
https://vbn.aau.dk/da/publications/8ac68839-2bae-46b1-983f-3107e64d7cc7

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