Search Results - "Kristoffer Haugarvoll"

A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population by Brakedal, Brage, Toker, Lilah, Haugarvoll, Kristoffer, Tzoulis, Charalampos

“…Epidemiological studies of Parkinson’s disease (PD) show variable and partially conflicting findings with regard to incidence, prevalence, and mortality. These…”
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Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease by Dölle, Christian, Flønes, Irene, Nido, Gonzalo S., Miletic, Hrvoje, Osuagwu, Nelson, Kristoffersen, Stine, Lilleng, Peer K., Larsen, Jan Petter, Tysnes, Ole-Bjørn, Haugarvoll, Kristoffer, Bindoff, Laurence A., Tzoulis, Charalampos

“…Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and…”
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NSAID use is not associated with Parkinson’s disease incidence: A Norwegian Prescription Database study by Brakedal, Brage, Tzoulis, Charalampos, Tysnes, Ole-Bjørn, Haugarvoll, Kristoffer

“…Objective Whether use of nonsteroidal anti-inflammatory drugs (NSAIDs) reduce the risk of incident Parkinson’s disease (PD) remains unresolved. Here, we…”
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Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain by Toker, Lilah, Tran, Gia T, Sundaresan, Janani, Tysnes, Ole-Bjørn, Alves, Guido, Haugarvoll, Kristoffer, Nido, Gonzalo S, Dölle, Christian, Tzoulis, Charalampos

“…Parkinson's disease (PD) is a complex, age-related neurodegenerative disorder of largely unknown etiology. PD is strongly associated with mitochondrial…”
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NR-SAFE: a randomized, double-blind safety trial of high dose nicotinamide riboside in Parkinson’s disease by Berven, Haakon, Kverneng, Simon, Sheard, Erika, Søgnen, Mona, Af Geijerstam, Solveig Amdahl, Haugarvoll, Kristoffer, Skeie, Geir-Olve, Dölle, Christian, Tzoulis, Charalampos

“…Nicotinamide adenine dinucleotide (NAD) replenishment therapy using nicotinamide riboside (NR) shows promise for Parkinson’s disease (PD) and other…”
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Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci by Gaare, Johannes Jernqvist, Nido, Gonzalo, Dolle, Christian, Sztromwasser, Pawel, Alves, Guido, Tysnes, Ole-Bjorn, Haugarvoll, Kristoffer, Tzoulis, Charalampos

“…Parkinson disease (PD) is a complex neurodegenerative disorder influenced by both environmental and genetic factors. While genome wide association studies have…”
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Common gene expression signatures in Parkinson's disease are driven by changes in cell composition by Nido, Gonzalo S, Dick, Fiona, Toker, Lilah, Petersen, Kjell, Alves, Guido, Tysnes, Ole-Bjørn, Jonassen, Inge, Haugarvoll, Kristoffer, Tzoulis, Charalampos

“…The etiology of Parkinson's disease is largely unknown. Genome-wide transcriptomic studies in bulk brain tissue have identified several molecular signatures…”
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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins by Pakdaman, Yasaman, Sanchez-Guixé, Monica, Kleppe, Rune, Erdal, Sigrid, Bustad, Helene J, Bjørkhaug, Lise, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Heimdal, Ketil, Knappskog, Per M, Johansson, Stefan, Aukrust, Ingvild

“…Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 ( ) gene encoding…”
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Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease by Aasly, Jan O., Vilariño-Güell, Carles, Dachsel, Justus C., Webber, Philip J., West, Andrew B., Haugarvoll, Kristoffer, Johansen, Krisztina K., Toft, Mathias, Nutt, John G., Payami, Haydeh, Kachergus, Jennifer M., Lincoln, Sarah J., Felic, Amela, Wider, Christian, Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., White, Linda R., Ross, Owen A., Farrer, Matthew J.

“…Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four…”
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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy by Flønes, Irene, Sztromwasser, Paweł, Haugarvoll, Kristoffer, Dölle, Christian, Lykouri, Maria, Schwarzlmüller, Thomas, Jonassen, Inge, Miletic, Hrvoje, Johansson, Stefan, Knappskog, Per M, Bindoff, Laurence A, Tzoulis, Charalampos

“…Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease…”
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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies by Haugarvoll, Kristoffer, Johansson, Stefan, Rodriguez, Carlos E, Boman, Helge, Haukanes, Bjørn Ivar, Bruland, Ove, Roque, Francisco, Jonassen, Inge, Blomqvist, Maria, Telstad, Wenche, Månsson, Jan-Eric, Knappskog, Per Morten, Bindoff, Laurence A

“…With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used…”
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Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson’s disease by Gaare, Johannes J., Dölle, Christian, Brakedal, Brage, Brügger, Kim, Haugarvoll, Kristoffer, Nido, Gonzalo S., Tzoulis, Charalampos

“…Replenishing nicotinamide adenine dinucleotide (NAD) via supplementation of nicotinamide riboside (NR) has been shown to confer neuroprotective effects in…”
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Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia by Farrer, Matthew J, Stone, Jeremy T, Lin, Chin-Hsien, Dächsel, Justus C, Hulihan, Mary M, Haugarvoll, Kristoffer, Ross, Owen A, Wu, Ruey-Meei

“…Abstract The goal of genetic association studies is to identify common (>5%) risk factors in complex disease traits. Herein we describe the first replicable…”
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HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia by Tzoulis, Charalampos, Zayats, Tetyana, Knappskog, Per Morten, Müller, Bernd, Larsen, Jan Petter, Tysnes, Ole-Bjørn, Bindoff, Laurence A., Johansson, Stefan, Haugarvoll, Kristoffer

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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing by Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A

“…Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the…”
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Genomewide Association, Parkinson Disease, and PARK10 by Farrer, Matthew J., Haugarvoll, Kristoffer, Ross, Owen A., Stone, Jeremy T., Milkovic, Nicole M., Cobb, Stephanie A., Whittle, Andrew J., Lincoln, Sarah J., Hulihan, Mary M., Heckman, Michael G., White, Linda R., Aasly, Jan O., Gibson, J. Mark, Gosal, David, Lynch, Timothy, Wszolek, Zbigniew K., Uitti, Ryan J., Toft, Mathias

“…Genomewide linkage analysis of rare familial forms of parkinsonism has identified mutations in seven genes, revealing a clinicopathologically and genetically…”
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Mitochondrial DNA homeostasis is essential for nigrostriatal integrity by Tzoulis, Charalampos, Schwarzlmüller, Thomas, Biermann, Martin, Haugarvoll, Kristoffer, Bindoff, Laurence A.

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Fine-mapping and candidate gene investigation within the PARK10 locus by HAUGARVOLL, Kristoffer, TOFT, Mathias, WHITE, Linda R, LYNCH, Timothy, GIBSON, J. Mark, UITTI, Ryan J, WSZOLEK, Zbigniew K, AASLY, Jan O, FARRER, Matthew J, SKIPPER, Lisa, HECKMAN, Michael G, CROOK, Julia E, SOTO, Alexandra, ROSS, Owen A, HULIHAN, Mary M, KACHERGUS, Jennifer M, SANDO, Sigrid B

“…Herein, we investigate whether single-nucleotide polymorphisms (SNPs) across the PARK10 locus are associated with susceptibility to Parkinson's disease (PD) or…”
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ELAVL4, PARK10, and the Celts by Haugarvoll, Kristoffer, Toft, Mathias, Ross, Owen A., Stone, Jeremy T., Heckman, Michael G., White, Linda R., Lynch, Timothy, Gibson, John Mark, Wszolek, Zbigniew K., Uitti, Ryan J., Aasly, Jan O., Farrer, Matthew J.

“…Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age‐at‐onset (AAO) in a series of Parkinson's disease (PD) patients…”
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The Genetics of Frontotemporal Dementia by Haugarvoll, Kristoffer, MD, Wszolek, Zbigniew K., MD, Hutton, Michael, PhD

“…This article describes the remarkable progress that has been made over the past decade in identifying the genetic contribution to frontotemporal dementia. The…”
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