Search Results - "Fallström, Marie"
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Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient
Published in BMC research notes (01-11-2011)“…Missense mutations in three different genes encoding amyloid-β precursor protein, presenilin 1 and presenilin 2 are recognized to cause familial early-onset…”
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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis
Published in Lancet neurology (01-03-2015)“…Summary Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about a third of patients, the disease is caused by autosomal…”
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Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study
Published in Neurobiology of aging (01-02-2018)“…Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM)…”
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White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort
Published in NeuroImage clinical (01-01-2017)“…© 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/). Genetic…”
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Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations
Published in Genetic testing (01-09-2001)“…Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such…”
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