UAB Digital Repository of Documents 2 records found  Search took 0.01 seconds. 
1.
5 p, 238.9 KB Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3) : a two-case report / Bettencourt, Conceição (Universidade dos Açores. Center of Research in Natural Resources) ; Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Coutinho, Paula (Universidade do Porto. Institute for Molecular and Cell Biology) ; Rizzu, Patrizia (VU University Medical Center. Department of Clinical Genetics) ; Vasconcelos, João (Hospital of Divino Espirito Santo. Department of Neurology) ; Kay, Teresa (Hospital of D. Estefania. Department of Clinical Genetics (Lisboa, Portugal)) ; Cymbron, Teresa (Universidade dos Açores. Center of Research in Natural Resources) ; Raposo, Mafalda (Universidade dos Açores. Center of Research in Natural Resources) ; Heutink, Peter (VU University Medical Center. Department of Clinical Genetics) ; Lima, Manuela (Universidade dos Açores. Center of Research in Natural Resources)
Background: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. [...]
2011 - 10.1186/1471-2377-11-131
BMC Neurology, Vol. 11, N. 131 (October 2011) , p. 1-5  
2.
6 p, 268.2 KB Regulatory role of vitamin D in T-cell reactivity against myelin peptides in relapsing-remitting multiple sclerosis patients / Grau López, Laia (Hospital Germans Trias i Pujol) ; Martínez Cáceres, Eva María (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Granada Ybern, María Luisa (Hospital Germans Trias i Pujol) ; Raïch Regué, Dàlia (Institut Germans Trias i Pujol) ; Naranjo Gómez, María del Mar (Institut Germans Trias i Pujol) ; Borràs Serres, Francesc Enric (Institut Germans Trias i Pujol) ; Ramo Tello, Cristina (Hospital Germans Trias i Pujol)
Background: Low levels of plasma 25-hydroxyvitaminD (25(OH)D) are associated with a higher incidence of multiple sclerosis (MS) due to the immune suppressive properties of vitamin D. The aim of this study was to determine the correlation between plasma 25(OH)D concentrations and clinical and immunological variables in a cohort of multiple sclerosis patients. [...]
2012 - 10.1186/1471-2377-12-103
BMC Neurology, Vol. 12, N. 103 (September 2012) , p. 1-6  

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