4 documents found, page 1 of 1
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C, et al.Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C, et al.Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing ...
Sá-Sousa A1, A; Fonseca, JA; Pereira, AM; Ferreira, A; Arrobas, A; Mendes, A; Drummond, M; Videira, W; Costa, T; Farinha, P; Soares, J; Rocha, PThe Portuguese Severe Asthma Registry (Registo de Asma Grave Portugal, RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation ...
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A p...
Darling, A; Tello, C; Martí, MJ; Garrido, C; Aguilera-Albesa, S; Tomás Vila, M; Costa, C, et al.BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the ref...