The identification of gene mutations causing disease lends new insight into the patogenesis and etiology of the disorder. In collaboration with NINDS and NHGRI we are performing a whole genome scan of families with a variety of neurological diseases. We are assessing two families with Parkinson's disease (PD), a large kindred from Columbia with Blepharospasm and a family with dystonia associated with pain. The genome wide scan in these families is being performed in collaboration with the linkage analysis core of LNG using a 5cM linkage panel and is currently 80% complete. Data management and analysis is being performed using a custom database and linkage interface designed by the bioinformatics and computational biology core of LNG.
| Hammer, Monia B; Ding, Jinhui; Mochel, Fanny et al. (2017) SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 17:208-212 |
| Hernandez, Dena G; Reed, Xylena; Singleton, Andrew B (2016) Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. J Neurochem 139 Suppl 1:59-74 |
| Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa et al. (2016) Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet 98:500-513 |
| Lesage, Suzanne; Bras, Jose; Cormier-Dequaire, Florence et al. (2015) Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet 1:e9 |
| Federoff, Monica; Schottlaender, Lucia V; Houlden, Henry et al. (2015) Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res 25:19-36 |
| Johnson, Janel O; Stevanin, Giovanni; van de Leemput, Joyce et al. (2015) A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 30:262-6 |
| Ghani, Mahdi; Lang, Anthony E; Zinman, Lorne et al. (2015) Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging 36:545.e9-14 |
| Xi, Zhengrui; Yunusova, Yana; van Blitterswijk, Marka et al. (2014) Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology 83:1476-8 |
| Siitonen, A; Majounie, E; Federoff, M et al. (2013) Mutations in EIF4G1 are not a common cause of Parkinson's disease. Eur J Neurol 20:e59 |
| Paisán-Ruiz, Coro; Lewis, Patrick A; Singleton, Andrew B (2013) LRRK2: cause, risk, and mechanism. J Parkinsons Dis 3:85-103 |
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