Zobrazeno 1 - 2
of 2
pro vyhledávání: '"abnormalities [Cerebellum]"'
Autor:
Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor
Publikováno v:
The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7
Autor:
Thomas Büttner, Tim M. Strom, Thomas Wieland, Jens Plaschke, Friedmar Kreuz, Katrin Bürk, Gabriele Gillessen-Kaesbach, Ronja Hollstein, Ludger Schöls, Frank J. Kaiser, Christine Zühlke, Diana Braunholz, Stephanie Tennstedt
Publikováno v:
European journal of medical genetics 57(5), 207-211 (2014). doi:10.1016/j.ejmg.2014.01.005
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel. While SCA6 is related to repeat e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c627dea8ed9da06079476bd7f7380487
https://pubmed.ncbi.nlm.nih.gov/24486772
https://pubmed.ncbi.nlm.nih.gov/24486772
