Zobrazeno 1 - 10
of 67
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
Autor:
Podașcă, Cezar1, Bîgiu, Nicușor Florin1, Sultan, Alexandru2, Preda, Gheorghe2, Gliga, Flavius2
Publikováno v:
Ginecologia.ro. 2020 Supplement, Vol. 8, p53-53. 1/2p.
Autor:
Pereira-Macedo M; Department of Obstetrics, Gynecology and Reproductive Medicine, ULS Santa Maria, Lisboa, Portugal. Miguel_macedo2@hotmail.com., Grangeia A; Department of Medical Genetics, ULS São João, Porto, Portugal., Braga AC; Department of Pathology, Faculdade de Medicina da Universidade do Porto, Porto, Portugal., Rolim R; Department of Pathology, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal., Matias A; Department of Obstetrics and Gynecology, Faculdade de Medicina, Universidade do Porto, Porto, Portugal.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Dec; Vol. 23 (6), pp. 2646-2649. Date of Electronic Publication: 2024 Aug 12.
Autor:
Pesaresi A; Neurosurgery Unit, Giannina Gaslini Children's Hospital, Genoa, Italy. alepesaresi@gmail.com.; Neurosurgery Unit, 'Città della Salute e della Scienza' University Hospital, Turin, Italy. alepesaresi@gmail.com.; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy. alepesaresi@gmail.com., Piatelli G; Neurosurgery Unit, Giannina Gaslini Children's Hospital, Genoa, Italy., Garbossa D; Neurosurgery Unit, 'Città della Salute e della Scienza' University Hospital, Turin, Italy.; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy., Pavanello M; Neurosurgery Unit, Giannina Gaslini Children's Hospital, Genoa, Italy.
Publikováno v:
Acta neurochirurgica [Acta Neurochir (Wien)] 2024 Oct 28; Vol. 166 (1), pp. 428. Date of Electronic Publication: 2024 Oct 28.
Autor:
BARNA, MARK
Publikováno v:
Discover. Jul/Aug2017, Vol. 38 Issue 6, p62-65. 4p. 7 Color Photographs, 2 Diagrams.
Autor:
Zheng, Wenjian, Guan, Xueyi, Lu, Zheng, Zhang, Xianchang, Zhai, Huina, Huang, Guodong, Gong, Jian
Publikováno v:
BMC Pediatrics; 11/3/2023, Vol. 23 Issue 1, p1-11, 11p
Autor:
Issa, Mahmoud Y.1 (AUTHOR), Chechlacz, Zinayida2 (AUTHOR), Stanley, Valentina2 (AUTHOR), George, Renee D.2 (AUTHOR), McEvoy-Venneri, Jennifer2 (AUTHOR), Belandres, Denice2 (AUTHOR), Elbendary, Hasnaa M.1 (AUTHOR), Gaber, Khaled R.3 (AUTHOR), Nabil, Ahmed3 (AUTHOR), Abdel-Hamid, Mohamed S.4 (AUTHOR), Zaki, Maha S.1 (AUTHOR) dr_mahazaki@yahoo.com, Gleeson, Joseph G.2 (AUTHOR) jogleeson@ucsd.edu
Publikováno v:
BMC Medical Genomics. 5/13/2020, Vol. 13 Issue 1, p1-10. 10p.
Autor:
Di Stasi, Martina, Mankad, Kshitij, Carney, Olivia, Loebel, Ulrike, Biswas, Asthik, Sudhakar, Sniya, Kinsler, Veronica, D'Arco, Felice
Publikováno v:
Neuroradiology; Jun2023, Vol. 65 Issue 6, p1077-1086, 10p
Autor:
Bedei I; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Giessen, Germany.; Baylor College of Medicine Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Texas Children's Hospital Fetal Center, Houston, Texas, USA.; Edward B. Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Krispin E; Boston Children's Hospital, Brigham and Women's Hospital, Beth Israel Deacones Medical Center, Harvard Medical School, Boston, Massachusetts, USA., Sanz Cortes M; Baylor College of Medicine Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Texas Children's Hospital Fetal Center, Houston, Texas, USA.; Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Hospital Pavilion for Women, Houston, Texas, USA., Lombaard H; Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Hospital Pavilion for Women, Houston, Texas, USA., Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Whitehead WE; Department of Neurosurgery, Texas Children's Hospital & Baylor College of Medicine, Houston, Texas, USA., Belfort MA; Baylor College of Medicine Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Texas Children's Hospital Fetal Center, Houston, Texas, USA.; Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Hospital Pavilion for Women, Houston, Texas, USA., Huisman TAGM; Edward B. Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 499-510. Date of Electronic Publication: 2023 Nov 27.