A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene (original) (raw)
Familial Alzheimer disease associated with A713T mutation in APP
M. Boada
Neuroscience Letters, 2004
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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation
Patrick Cras
Acta Neuropathologica, 1998
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Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family
Chiara Cupidi
Neurology, 2015
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Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
gael nicolas
Neurology Genetics, 2021
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Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy
Sébastien Hébert, Pierre-Marie Preux
European journal of human genetics : EJHG, 2015
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Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy
Roberto Onofrio
PLoS ONE, 2010
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Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease. First case in Argentina
Marcos Fernandez Suarez
Journal of Neurology & Stroke
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The Report of p.Val717Phe Mutation in the APP Gene in a Hungarian Family With Alzheimer Disease
Renáta Bencsik
Alzheimer Disease & Associated Disorders
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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation
Christine Van Broeckhoven
Acta Neuropathologica, 1998
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Familial Cerebral Amyloid Angiopathy Due to the Iowa Mutation in an Irish Family
Lisa Costelloe
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2014
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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
Nathalie Meur
Nature Genetics, 2006
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Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)
Christine Van Broeckhoven
Brain, 2000
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Hereditary Cerebral Hemorrhage With Amyloidosis Associated With the E693K Mutation of APP
Orso Bugiani
Archives of neurology, 2010
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Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease
Nenad Bogdanovic, Ove Almkvist
Archives of Neurology, 2008
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APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review
gael nicolas
Journal of Alzheimer's Disease, 2017
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Cerebral amyloidosis, amyloid angiopathy, and their relationship to stroke and dementia
Jorge Ghiso
Journal of Alzheimer's Disease, 2001
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A novel mutation in the ?-protein coding region of the amyloid ?-protein precursor (APP) gene
Arne Brun
Human Genetics, 1992
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Lack of point mutation of the APP gene in sporadic Alzheimer's disease in Japanese
Atsushi Takai
Acta Neurologica Scandinavica, 2009
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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease
Seong Soo A. An
Neuropsychiatric Disease and Treatment, 2018
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Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation
Patrick Cras
Brain, 2001
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A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis
Marcella Catania
Science, 2009
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Unusual Aß amyloid deposition in Alzheimer's disease due to an APP T7141 mutation at the γ42-secretase site
Christine Van Broeckhoven
Neurobiol Aging, 2000
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Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val→Ile mutation in the amyloid precursor protein gene
Tomohiro Katsuya
Neurobiology of Aging, 1993
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Cerebral Amyloid Angiopathies: A Pathologic, Biochemical, and Genetic View
Agueda Rostagno
Journal of Neuropathology & Experimental Neurology, 2003
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Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population
Liisa Myllykangas
Neurobiology of Aging, 2013
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Sporadic and Familial Cerebral Amyloid Angiopathies
Agueda Rostagno
Brain Pathology, 2006
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