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A survey system to present the status of anaerobic digestion in Europe in diff...
Körner, Ina; Amon, Barbara; Amon, Thomas; Balsari, Paolo; Bioteau, Thierry; Dach, jacek; De Buisomje, Fridtjof; Deipser, Anna; Fabbri, ClaudioThe RAMIRAN Anaerobic Digestion (AD) Task Group has completed a second survey of the status of European biogas for the years 2010/12. The survey has been split into agricultural, industrial, urban waste and wastewater sectors and data has been collected from eleven countries for at least one of these sectors. The questions included driving forces, the number, type and size of plants, substrates, utilisation of ...
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...
Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, PaulaThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
A multiplex assay for X-linked intellectual disability assessment
Jorge, Paula; Marques, Isabel; Oliveira, Bárbara; Santos, RosárioX-linked intellectual disability (XLID) represents a common cause of monogenic mental retardation, where X-linked conditions are easily identified in affected males, who inevitably manifest a phenotype when harboring a mutant allele, due to their hemizygozity (Chiurazzi et al., 2008). Among the genetic causes involved in XLID, mutations in the Fragile Mental Retardation 1 (FMR1), AF4/FMR2 family member 2 (FMR2)...
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