D Crosiers, J Theuns, P Cras… - Journal of Chemical …, 2011 - Elsevier In the past 15 years, insights in clinical and genetic characteristics of Parkinson disease (PD) have increased substantially. Sequence or copy number variants in at least six genes (SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause ...
A Valeri, S Martínez, JA Casado… - Clinical and Translational …, 2011 - Springer Abstract The dissection of the molecular pathways par- ticipating in genetic instability disorders has rendered invaluable information about the mechanisms of cancer pathogenesis and progression, and is offering a unique opportunity to establish targeted anticancer ... Related articles - All 6 versions
S Podder… - Genomics, 2011 - Elsevier Functional redundancy by gene duplication appears to be a common phenomenon in biological system and hence understanding its underlying mechanism deserves much attention. Here, we investigated the differences between functional compensation of monogenic and ... All 3 versions
B Borroni, A Pilotto, M Bianchi… - Mini Reviews in …, 2011 - ingentaconnect.com ... Genetic Contributors to Frontotemporal Lobar Degeneration: Beyond MonogenicDisease B. Borroni*, A. Pilotto, M. Bianchi, N. Gilberti and A. Padovani ... POLYMORPHISMS WITHIN MAPT AND PGRN GENES: BEYOND MONOGENICDISEASE...
G Kuhlenbäumer, J Hullmann… - Human mutation, 2011 - Wiley Online Library ... In many cases, a monogenicdisease is caused by CNVs in a subset of patients, whereas others bear a point mutation in a gene contained within the duplication or deletion. ... Problems of Novel Genomic Methods in MonogenicDisease Gene Identification. ... Cited by 9 - Related articles - All 3 versions