@article{3aca363bf08544fe8df7832f2a93f5e6,
title = "Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation",
abstract = "Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features.",
keywords = "Alanine, Alzheimer Disease, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Blood Pressure, DNA Mutational Analysis, Electroencephalography, Family Health, Humans, Iran, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Peptide Fragments, Threonine",
author = "Lindquist, {Suzanne Granh{\o}j} and Nielsen, {J{\o}rgen Erik} and Jette Stokholm and Marianne Schwartz and Mustafa Batbayli and Martin Ballegaard and Jesper Erdal and Katja Krabbe and Gunhild Waldemar",
year = "2008",
doi = "10.1016/j.jns.2007.11.021",
language = "English",
volume = "268",
pages = "124--30",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier BV",
number = "1-2",
}