Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: ACO2[original query] |
---|
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurology. Genetics 2018 3 4 (2): e223. Bouwkamp Christian G, Afawi Zaid, Fattal-Valevski Aviva, Krabbendam Inge E, Rivetti Stefano, Masalha Rafik, Quadri Marialuisa, Breedveld Guido J, Mandel Hanna, Tailakh Muhammad Abu, Beverloo H Berna, Stevanin Giovanni, Brice Alexis, van IJcken Wilfred F J, Vernooij Meike W, Dolga Amalia M, de Vrij Femke M S, Bonifati Vincenzo, Kushner Steven |
Iron-regulatory genes are associated with Neuroimaging measures in HIV infection. Brain imaging and behavior 2019 Jul . Fennema-Notestine Christine, Thornton-Wells Tricia A, Hulgan Todd, Letendre Scott, Ellis Ronald J, Franklin Donald R, Anderson Albert M, Heaton Robert K, Bloss Cinnamon S, Grant Igor, Kallianpur Asha R, |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Brain communications 2021 5 3 (2): fcab063. Charif Majida, Gueguen Naïg, Ferré Marc, Elkarhat Zouhair, Khiati Salim, LeMao Morgane, Chevrollier Arnaud, Desquiret-Dumas Valerie, Goudenège David, Bris Céline, Kane Selma, Alban Jennifer, Chupin Stéphanie, Wetterwald Céline, Caporali Leonardo, Tagliavini Francesca, LaMorgia Chiara, Carbonelli Michele, Jurkute Neringa, Barakat Abdelhamid, Gohier Philippe, Verny Christophe, Barth Magalie, Procaccio Vincent, Bonneau Dominique, Zanlonghi Xavier, Meunier Isabelle, Weisschuh Nicole, Schimpf-Linzenbold Simone, Tonagel Felix, Kellner Ulrich, Yu-Wai-Man Patrick, Carelli Valerio, Wissinger Bernd, Amati-Bonneau Patrizia, Reynier Pascal, , Lenaers G |
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain : a journal of neurology 2022 11 146 (2): 455-460. Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, , Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patriz |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: