Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and ALDH5A1[original query] |
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| Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. The Lancet. Neurology 2007 Nov 6 (11): 970-80. Cavalleri Gianpiero L, Weale Michael E, Shianna Kevin V, Singh Rinki, Lynch John M, Grinton Bronwyn, Szoeke Cassandra, Murphy Kevin, Kinirons Peter, O'Rourke Deirdre, Ge Dongliang, Depondt Chantal, Claeys Kristl G, Pandolfo Massimo, Gumbs Curtis, Walley Nicole, McNamara James, Mulley John C, Linney Kristen N, Sheffield Leslie J, Radtke Rodney A, Tate Sarah K, Chissoe Stephanie L, Gibson Rachel A, Hosford David, Stanton Alice, Graves Tracey D, Hanna Michael G, Eriksson Kai, Kantanen Anne-Mari, Kalviainen Reetta, O'Brien Terence J, Sander Josemir W, Duncan John S, Scheffer Ingrid E, Berkovic Samuel F, Wood Nicholas W, Doherty Colin P, Delanty Norman, Sisodiya Sanjay M, Goldstein David |
| Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
| Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2020 Aug . Ciminelli Bianca Maria, Menduti Giovanna, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Squitti Rosanna, Rongioletti Mauro, Nica Sabrina, Novelletto Andrea, Rossi Luisa, Malaspina Patriz |
| Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. Journal of child neurology 2021 12 36 (13-14): 1218-1222. Martin Kirt, McConnell Alice, Elsea Sarah |
| Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. Research square 2023 7 . Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L DiBacco, Erland Arning, Alexander Rotenberg, Henry H C Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mariarita Bertoldi, Phillip L Pea |
| Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Human genetics 2023 11 . Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L DiBacco, Erland Arning, Alexander Rotenberg, Henry H C Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mariarita Bertoldi, Phillip L Pea |
| Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 2024 4 10 (3): e200153. Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro |
- Page last reviewed:Feb 1, 2024
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