Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

Autor: Plutino M; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Chaussenot A; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Ait-El-Mkadem S; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Bannwarth S; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Genin EC; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Rouzier C; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Augé G; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Sacconi S; National Centre for Neuromuscular Disorders, CNRS UMR6543, Nice University Hospital, France., Pouget J; Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Paquis-Flucklinger V; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France. Electronic address: paquis@hermes.unice.fr.

Publikováno v: Journal of the neurological sciences [J Neurol Sci] 2015 Apr 15; Vol. 351 (1-2), pp. 196-197. Date of Electronic Publication: 2015 Feb 20.

A Century of Plant Species Loss from an Isolated Fragment of Lowland Tropical Rain Forest

Autor: Turner, I. M., Chua, K. S., Ong, J. S. Y., Soong, B. C., Tan, H. T. W.

Publikováno v: Conservation Biology, 1996 Aug 01. 10(4), 1229-1244.

Externí odkaz: https://www.jstor.org/stable/2387158

Prevalence of Machado-Joseph disease (MJD/SCA3) explained by migration and multiple founder effects

Autor: Martins, S., Costa, I. P. D., Giunti, P., Watanabe, M., Sasaki, H., Almeida, B. C., Amorim, A., Gaspar, C., Nicholson, G., Saraiva-Pereira, M. L., Tsuji, S., Li, Q., Chen, S., Landoure, G., Maciel, P., Zaltzman, R., Sharony, R., Zhou, Y., Barros, J., Loureiro, J. L., Cruz, V. T., Ruano, L., Brunt, E. R. P., Corral-Juan, M. Marc, Hsieh, M., Tranebjaerg, L., Olajumoke, O., Ogun, S. A., Finkel, M. F., Gordon, C., Cornejo-Olivas, M., Fischbeck, K., Matilla-Duenas, A., Volpini, V., Riess, O., Wu, Z., Rouleau, G. A., Jardim, L. B., Giovanni Stevanin, Brice, A., Coutinho, P., Soong, B., Ranum, L. P., Durr, A., Sequeiros, J.

Publikováno v: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Web of Science
CIÊNCIAVITAE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a28b6668adcf3df2ca3b0f872c4c6fb
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4950

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

Pooled genetic perturbation screens with image-based phenotypes.

Autor: Feldman D; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Biochemistry and Institute for Protein Design, University of Washington, Seattle, WA, USA., Funk L; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard-MIT Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, MA, USA., Le A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Carlson RJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard-MIT Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, MA, USA., Leiken MD; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tsai F; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; 10x Genomics, Pleasanton, CA, USA., Soong B; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singh A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cellular and Tissue Genomics, Genentech Inc., South San Francisco, CA, USA., Blainey PC; Broad Institute of MIT and Harvard, Cambridge, MA, USA. pblainey@broadinstitute.org.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA. pblainey@broadinstitute.org.; Koch Institute for Integrative Cancer Research at MIT, Cambridge, MA, USA. pblainey@broadinstitute.org.

Publikováno v: Nature protocols [Nat Protoc] 2022 Feb; Vol. 17 (2), pp. 476-512. Date of Electronic Publication: 2022 Jan 12.