نتائج البحث - Sandra da Barroca
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1
Contribution of <i>ATXN2</i> intermediary polyQ expansions in a spectrum of neurodegenerative disorders حسب Serena Lattante, Stéphanie Millecamps, Giovanni Stévanin, Sophie Rivaud-Péchoux, Carine Moigneu, Agnès Camuzat, Sandra da Barroca, Emeline Mundwiller, Philippe Couarch, François Salachas, Didier Hannequin, Vincent Meininger, Florence Pasquier, Danielle Seilhean, Philippe Couratier, Véronique Danel-Brunaud, Muriel Bonnet, Christine Tranchant, Eric LeGuern, Alexis Brice, Isabelle Le Ber, Edor Kabashi
منشور في 2014Artigo -
2
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis حسب Elisa Teyssou, Laura Chartier, Maria del Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stévanin, Stéphanie Millecamps
منشور في 2017Artigo
أدوات البحث:
موضوعات ذات صلة
Amyotrophic lateral sclerosis
Biology
Dementia
Disease
Frontotemporal dementia
Gene
Genetics
Medicine
Allele
C9orf72
Cohort
Exome sequencing
Frontotemporal lobar degeneration
Hereditary spastic paraplegia
Internal medicine
Missense mutation
Mutation
Pathology
Phenotype
Progressive supranuclear palsy
Trinucleotide repeat expansion