6 documents found, page 1 of 1
A standardised protocol for blood and cerebrospinal fluid collection and proces...
Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick Joel da; Adão, Diana; Pereira, Dina; Ribeiro, Joana Afonso; Cunha, InêsThe European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable futur...
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort
Vollstedt, Eva‐Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, MarieBackground: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objectiv...
Large expert-curated database for benchmarking document similarity detection in...
Brown, Peter; Tan, Aik-Choon; El-Esawi, Mohamed A.; Liehr, Thomas; Blanck, Oliver; Gladue, Douglas P.; Almeida, Gabriel M. F.; Cernava, TomislavMade available in DSpace on 2020-12-11T01:57:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-10-29; Griffith University Gowonda HPC Cluster; Queensland Cyber Infrastructure Foundation; Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents tha...
Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopat...
Miranda, Hugo Vicente; Szegő, Éva M.; Oliveira, Luís M. A.; Breda, Carlo; Darendelioglu, Ekrem; Oliveira, Rita M. de; Ferreira, Diana G.α-Synuclein misfolding and aggregation is a hallmark in Parkinson’s disease and in several other neurodegenerative diseases known as synucleinopathies. The toxic properties of α-synuclein are conserved from yeast to man, but the precise underpinnings of the cellular pathologies associated are still elusive, complicating the development of effective therapeutic strategies. Combining molecular genetics with targe...
Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopat...
Vicente Miranda, Hugo; Szego, Éva M.; Oliveira, Luís M.A.; Breda, Carlo; Darendelioglu, Ekrem; de Oliveira, Rita M.; Ferreira, Diana G.α-Synuclein misfolding and aggregation is a hallmark in Parkinson's disease and in several other neurodegenerative diseases known as synucleinopathies. The toxic properties of α-synuclein are conserved from yeast to man, but the precise underpinnings of the cellular pathologies associated are still elusive, complicating the development of effective therapeutic strategies. Combining molecular genetics with targe...
Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopat...
Miranda, Hugo Vicente; Szego, Éva M.; Oliveira, Luís M. A.; Breda, Carlo; Darendelioglu, Ekrem; Oliveira, Rita M. de; Ferreira, Diana G.α-Synuclein misfolding and aggregation is a hallmark in Parkinson's disease and in several other neurodegenerative diseases known as synucleinopathies. The toxic properties of α-synuclein are conserved from yeast to man, but the precise underpinnings of the cellular pathologies associated are still elusive, complicating the development of effective therapeutic strategies. Combining molecular genetics with targe...