Search Results - "Lilius, L"

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene by Thonberg, Håkan, Chiang, Huei-Hsin, Lilius, Lena, Forsell, Charlotte, Lindström, Anna-Karin, Johansson, Charlotte, Björkström, Jenny, Thordardottir, Steinunn, Sleegers, Kristel, Van Broeckhoven, Christine, Rönnbäck, Annica, Graff, Caroline

“…Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5%…”
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Genome scan on Swedish Alzheimer's disease families by Sillén, A, Forsell, C, Lilius, L, Axelman, K, Björk, B F, Onkamo, P, Kere, J, Winblad, B, Graff, C

“…Alzheimer's disease (AD) is an age-related disease, which affects approximately 40% of the population at an age above 90 years. The heritability is estimated…”
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The structure of the presenilin 1 ( S182 ) gene and identification of six novel mutations in early onset AD families by Goate, A, Kosik, K, Talbot, C, Axelman, K, Roberts, G.W, Dickson, D, Mehta, N, Harvey, R, Winblad, B, Adams, M.D, Lantos, P, Karran, E, Arcos, M, Wragg, M, Froelich, S, Busfield, F, Morris, J, Martinez, A, Prihar, G, Zehr, C, Poyhonen, M, Viitanen, M, Myers, A, He, C, Behrens, M.I, Mann, D, Neary, D, Venter, J.C, Snowden, J, Korenblat, K, Duff, K, Ashworth, A, Rossor, M, Forsell, L, Cowburn, R, Ossa, J, Haltia, M, Pearson, C, Cline, R.T, Madrigal, L, Clark, R.F, Hutton, M, Johnston, J, Fuldner, M, Kennedy, A, Sarner, S, Lannfelt, L, Hardy, J, Roques, P, Collinge, J, Fox, N, Norton, J, Lilius, L, Lendon, C, Lincoln, S, Philips, C.A, Baker, M, Humphreys, C, Perez-Tur, J, Lopera, F, Crook, R, Houlden, H, Ruiz, A

“…Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182…”
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APOE genotypes and disease severity in multiple sclerosis by Masterman, T, Zhang, Z, Hellgren, D, Salter, H, Anvret, M, Lilius, L, Lannfelt, L, Hillert, J

“…Apolipoprotein E (apoE) is involved in the transport of lipids necessary for membrane repair and is encoded by a gene on chromosome 19q13, a region positive…”
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Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E ε4 by INGELSON, Martin, FROELICH FABRE, Susanne, LILIUS, Lena, ANDERSEN, Christian, VIITANEN, Matti, ALMKVIST, Ove, WAHLUND, Lars-Olof, LANNFELT, Lars

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Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia by Johansson, A, Hampel, H, Faltraco, F, Buerger, K, Minthon, L, Bogdanovic, N, Sjögren, M, Zetterberg, H, Forsell, L, Lilius, L, Wahlund, L.O, Rymo, L, Prince, J.A, Blennow, K

“…Recent studies show linkage between Alzheimer's disease (AD) and two loci on chromosome 10. The cell division cycle 2 (cdc2) gene is located close to one of…”
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Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation by Lannfelt, L, Axelman, K, Lilius, L, Basun, H

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A DLST genotype associated with reduced risk for Alzheimer's disease by SHEU, K.-F. R, BROWN, A. M, KRISTAL, B. S, KALARIA, R. N, LILIUS, L, LANNFELT, L, BLASS, J. P

“…Recent studies suggest that variants of the DLST gene alter the risk of AD. DLST encodes the core subunit of the mitochondrial alpha-ketoglutarate…”
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Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden by Öijerstedt, Linn, Chiang, Huei-Hsin, Björkström, Jenny, Forsell, Charlotte, Lilius, Lena, Lindström, Anna-Karin, Thonberg, Håkan, Graff, Caroline

“…Frontotemporal dementia (FTD) is the second most common early-onset dementia. Up to half of the cases are familial, and several mutations have been identified…”
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Frequency of low erythrocyte porphobilinogen deaminase activity in Finland by Mustajoki, P, Kauppinen, R, Lannfelt, L, Lilius, L, Koistinen, J

“…The frequency of low erythrocyte porphobilinogen deaminase (PBGD) activity was investigated in 2234 blood donors and in 30 patients with acute intermittent…”
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No detected mutations in the genes for the amyloid precursor protein and presenilins 1 and 2 in a swiss early-onset Alzheimer's disease family with a dominant mode of inheritance by Savioz, A, Leuba, G, Forsell, C, Lilius, L, Rossier, C, Saini, K, Bouras, C, Lannfelt, L

“…Mutations have been found in more than a hundred early-onset families with Alzheimer's disease (AD) in the genes for the amyloid precursor protein, presenilin…”
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Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort by Mehrabian, Shima, Thonberg, Håkan, Raycheva, Margarita, Lilius, Lena, Stoyanova, Katya, Forsell, Charlotte, Cavallin, Lena, Nesheva, Desislava, Westman, Eric, Toncheva, Draga, Traykov, Latchezar, Winblad, Bengt, Graff, Caroline

“…The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia…”
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Predicting Cognitive Decline across Four Decades in Mutation Carriers and Non-carriers in Autosomal-Dominant Alzheimer's Disease by Almkvist, Ove, Rodriguez-Vieitez, Elena, Thordardottir, Steinunn, Amberla, Kaarina, Axelman, Karin, Basun, Hans, Kinhult-Ståhlbom, Anne, Lilius, Lena, Remes, Anne, Wahlund, Lars-Olof, Viitanen, Matti, Lannfelt, Lars, Graff, Caroline

“…The aim of this study was to investigate cognitive performance including preclinical and clinical disease course in carriers and non-carriers of…”
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Progressive neuropathology and cognitive decline in a single Arctic APP transgenic mouse model by Rönnbäck, Annica, Zhu, Shunwei, Dillner, Karin, Aoki, Mikio, Lilius, Lena, Näslund, Jan, Winblad, Bengt, Graff, Caroline

“…Abstract The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic…”
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No common founder for C9orf72 expansion mutation in Sweden by Chiang, Huei-Hsin, Forsell, Charlotte, Lindström, Anna-Karin, Lilius, Lena, Thonberg, Håkan, Nennesmo, Inger, Graff, Caroline

“…Hexanucleotide expansion mutations in the chromosome 9 open reading frame 72 (C9orf72) gene is the most common genetic cause for frontotemporal dementia (FTD)…”
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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid by Mullan, Mike, Crawford, Fiona, Axelman, Karin, Houlden, Henry, Lilius, Lena, Winblad, Bengt, Lannfelt, Lars

“…Mutations at codon 717 in exon 17 of the beta-amyloid precursor protein (APP) gene have previously been shown to segregate with early onset Alzheimer's disease…”
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Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease by Forsell, Charlotte, Björk, Behnosh Fakhri, Lilius, Lena, Axelman, Karin, Fabre, Susanne Froelich, Fratiglioni, Laura, Winblad, Bengt, Graff, Caroline

“…Abstract The COL25A1 gene, located in 4q25, encodes the CLAC protein, which has been implicated in Alzheimer's disease (AD) pathogenesis. CLAC was originally…”
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Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration by Chiang, Huei-Hsin, Forsell, Charlotte, Lilius, Lena, Öijerstedt, Linn, Thordardottir, Steinunn, Shanmugarajan, Krishnan, Westerlund, Marie, Nennesmo, Inger, Thonberg, Håkan, Graff, Caroline

“…Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease with an age at onset generally below 65 years. Mutations in progranulin…”
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Biochemical studies of poly-T variants in the Alzheimer's disease associated TOMM40 gene by Hedskog, Louise, Brohede, Jesper, Wiehager, Birgitta, Pinho, Catarina Moreira, Revathikumar, Priya, Lilius, Lena, Glaser, Elzbieta, Graff, Caroline, Karlström, Helena, Ankarcrona, Maria

“…The apolipoprotein E (APOE) gene remains the most strongly established risk factor for late onset Alzheimer's disease (LOAD). Recently the gene, TOMM40, which…”
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Microsatellite D21S210 (GT-12) allele frequencies in sporadic Alzheimer's disease by Lannfelt, L, Lilius, L, Viitanen, M, Houlden, H, Rossor, M, Hardy, J, Winblad, B, Basun, H

“…Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease…”
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