Encontrados 9 documentos, a visualizar página 1 de 1
Physiotherapists’ barriers and facilitators to the implementation of a behaviou...
Moniz, A; Duarte, ST; Aguiar, P; Caeiro, C; Pires, D; Fernandes, R; Moço, D; Marques, MM; Sousa, R; Canhão, H; Branco, J; Rodrigues, AM; Cruz, EBBackground: Recurrences of low back pain (LBP) are frequent and associated with high levels of disability and medical costs. Regular exercise practice may be an effective strategy to prevent recurrences of LBP, however, the promotion of this behaviour by physiotherapists seems to be challenging. This study aims to explore physiotherapists' perceived barriers and facilitators to the implementation of a behaviour...
Impairment of Adenosinergic System in Rett syndrome: Novel Therapeutic Target t...
Miranda-Lourenço, C; Duarte, ST; Palminha, C; Gaspar, C; Rodrigues, TM; Magalhães-Cardoso, T; Rei, N; Colino-Oliveira, M; Gomes, R; Ferreira, S; Rosa, JRett syndrome (RTT; OMIM#312750) is mainly caused by mutations in the X-linked MECP2 gene (methyl-CpG-binding protein 2 gene; OMIM*300005), which leads to impairments in the brain-derived neurotrophic factor (BDNF) signalling. The boost of BDNF mediated effects would be a significant breakthrough but it has been hampered by the difficulty to administer BDNF to the central nervous system. Adenosine, an endogenou...
Structural Analysis of Pathogenic Missense Mutations in GABRA2 and Identificati...
Sanchis-Juan, A; Hasenahuer, MA; Baker, JA; McTague, A; Barwick, K; Kurian, MA; Duarte, ST; Carss, KJ; Thornton, J; Raymond, FLBackground: Cys-loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six missense variants in GABRA2, a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE). We identified a novel de novo missense variant in GABRA2 in a patient with EIEE and performed protein structural analysis of the se...
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, HNext-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. ...
Loss of Hierarchical Imprinting Regulation at the Prader-Willi/Angelman Syndrom...
Pólvora-Brandão, D; Joaquim, M; Godinho, I; Aprile, D; Álvaro, AR; Onofre, I; Raposo, AC; Pereira de Almeida, L; Duarte, ST; da Rocha, STThe human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted disease modeling is the numerous imprinting defects found in many iPSCs. Here, by reprogramming ski...
AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymic...
Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, RHereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have...
Atypical phenotype in two patients with LAMA2 mutations
Marques, J; Duarte, ST; Costa, S; Jacinto, S; Oliveira, J; Oliveira, ME; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Evangelista, T; Calado, ECongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxystero...
Ortez, C; Villar, C; Fons, C; Duarte, ST; Pérez, A; García-Villoria, J; Ribes, A; Ormazábal, A; Casado, M; Campistol, Jaume; Vilaseca, MA17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospina...
Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Musc...
Duarte, ST; Oliveira, J; Santos, R; Pereira, P; Barroso, C; Conceição, I; Evangelista, TINTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and Mm...