Zobrazeno 1 - 4
of 4
pro vyhledávání: '"MESH: Parkinsonian Disorders / genetics"'
Autor:
Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
International audience; Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1398::6ccf31a88f1bb53f37d07fa49a3a3ccc
https://www.hal.inserm.fr/inserm-03014481v2/document
https://www.hal.inserm.fr/inserm-03014481v2/document
Autor:
HUIN, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
International audience; Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::03f48b939ec6322f8c0e08f5d5a546c1
https://www.hal.inserm.fr/inserm-03014481v2/document
https://www.hal.inserm.fr/inserm-03014481v2/document
Autor:
Jean-Christophe Cuvellier, Marie Delliaux, Kathy Dujardin, Delphine Dellacherie, Bernard Sablonnière, Isabelle Strubi-Vuillaume, David Devos, Luc Defebvre, Vincent Huin, Audrey Riquet, Marine Brion, Caroline Moreau, Jean-Marie Cuisset
Publikováno v:
Parkinsonism & Related Disorders
Parkinsonism & Related Disorders, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩
Parkinsonism and Related Disorders
Parkinsonism and Related Disorders, Elsevier, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩
Parkinsonism & Related Disorders, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩
Parkinsonism and Related Disorders
Parkinsonism and Related Disorders, Elsevier, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩
International audience; BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f95f0fa07a9835c000ad431e72b5b0e
https://doi.org/10.1016/j.parkreldis.2017.09.014
https://doi.org/10.1016/j.parkreldis.2017.09.014
Autor:
Antoinette Gelot, Alexis Brice, Agnès Camuzat, Benoit Rucheton, Laureen Chat, Dario Saracino, Frédérique Fluchère, Johannes Alexander Lobrinus, Fabienne Clot, Sylvie Forlani, Peter Myers, Alexandra Durr, Ludmila Jornea, Isabelle Le Ber, Vincent Huin, Foudil Lamari, Mathieu Barbier, Armand Bottani, Catherine Caillaud, Stéphane Auvin, Charles Duyckaerts
Publikováno v:
Brain, Vol. 143, No 1 (2020) pp. 303-319
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2606313088e1f00ce84d434e32646b88
https://pubmed.ncbi.nlm.nih.gov/33844830
https://pubmed.ncbi.nlm.nih.gov/33844830