Publications 2024

Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Portugal B, Lee PC, May P, Bobbili D, Radivojkov Blagojevic M, Lichtner P, Singleton AB, Hernandez D, Edsall C, Mellick GD, Zimprich AA, Pirker W, Rogaeva EA, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC et al. (2024)
Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study
Neurology, 103 (3), e209620
DOI 10.1212/WNL.0000000000209620, PubMed 38986057

Faouzi J, Tan M, Casse F, Lesage S, Tesson C, Brice A, Mangone G, Mariani LL, Iwaki H, Colliot O, Pihlstrøm L, Corvol JC (2024)
Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores
NPJ Parkinsons Dis, 10 (1), 8
DOI 10.1038/s41531-023-00619-5, PubMed 38177146

Landoulsi Z, Sreelatha AAK, Schulte C, Bobbili DR, Montanucci L, Leu C, Niestroj LM, Hassanin E, Domenighetti C, Pavelka L, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Portugal B, Edsall C, Kru Ger J, Hernandez DG, Blauwendraat C, Mellick GD, Zimprich A, Pirker W, Tan M, Rogaeva E, Lang AE, Koks S et al. (2024)
Genome-wide association study of copy number variations in Parkinson's disease
medRxiv
DOI 10.1101/2024.08.21.24311915, PubMed 39228715

Murthy M, Fodder K, Miki Y, Rambarack N, De Pablo Fernandez E, Pihlstrøm L, Mill J, Warner TT, Lashley T, Bettencourt C (2024)
DNA methylation patterns in the frontal lobe white matter of multiple system atrophy, Parkinson's disease, and progressive supranuclear palsy: a cross-comparative investigation
Acta Neuropathol, 148 (1), 4
DOI 10.1007/s00401-024-02764-4, PubMed 38995454

Nordengen K, Cappelletti C, Bahrami S, Frei O, Pihlstrøm L, Henriksen SP, Geut H, Rozemuller AJM, van de Berg WDJ, Andreassen OA, Toft M (2024)
Pleiotropy with sex-specific traits reveals genetic aspects of sex differences in Parkinson's disease
Brain, 147 (3), 858-870
DOI 10.1093/brain/awad297, PubMed 37671566

Tan MMX, Lawton MA, Pollard MI, Brown E, Real R, Carrasco AM, Bekadar S, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Hubbard L, Malek N, Grosset KA, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Wood NW, Williams-Gray CH, Andreassen OA, Toft M, Elbaz A et al. (2024)
Genome-wide determinants of mortality and motor progression in Parkinson's disease
NPJ Parkinsons Dis, 10 (1), 113
DOI 10.1038/s41531-024-00729-8, PubMed 38849413

Wetering JV, Geut H, Bol JJ, Galis Y, Timmermans E, Twisk JWR, Hepp DH, Morella ML, Pihlstrom L, Lemstra AW, Rozemuller AJM, Jonkman LE, van de Berg WDJ (2024)
Neuroinflammation is associated with Alzheimer's disease co-pathology in dementia with Lewy bodies
Acta Neuropathol Commun, 12 (1), 73
DOI 10.1186/s40478-024-01786-z, PubMed 38715119

Publications 2023

Andersen MS, Leikfoss IS, Brorson IS, Cappelletti C, Bettencourt C, Toft M, Pihlstrøm L (2023)
Epigenome-wide association study of peripheral immune cell populations in Parkinson's disease
NPJ Parkinsons Dis, 9 (1), 149
DOI 10.1038/s41531-023-00594-x, PubMed 37903812

Cappelletti C, Henriksen SP, Geut H, Rozemuller AJM, van de Berg WDJ, Pihlstrøm L, Toft M (2023)
Transcriptomic profiling of Parkinson's disease brains reveals disease stage specific gene expression changes
Acta Neuropathol, 146 (2), 227-244
DOI 10.1007/s00401-023-02597-7, PubMed 37347276

Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Augé A, Olaso R, Deleuze JF, Lesueur F, Ostroumova E, Kesminiene A, de Vathaire F, Guénel P, EPITHYR consortium, Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR et al. (2023)
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Mov Disord, 38 (4), 604-615
DOI 10.1002/mds.29337, PubMed 36788297

Tunold JA, Tan MMX, Koga S, Geut H, Rozemuller AJM, Valentino R, Sekiya H, Martin NB, Heckman MG, Bras J, Guerreiro R, Dickson DW, Toft M, van de Berg WDJ, Ross OA, Pihlstrøm L (2023)
Lysosomal polygenic risk is associated with the severity of neuropathology in Lewy body disease
Brain, 146 (10), 4077-4087
DOI 10.1093/brain/awad183, PubMed 37247383

Tunold JA, Tan MMX, Toft M, Ross O, van de Berg WDJ, Pihlstrøm L (2023)
Lysosomal Polygenic Burden Drives Cognitive Decline in Parkinson's Disease with Low Alzheimer Risk
Mov Disord, 39 (3), 596-601
DOI 10.1002/mds.29698, PubMed 38124396

Publications 2022

Domenighetti C, Douillard V, Sugier PE, Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Gourraud PA, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC et al. (2022)
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
Mov Disord, 37 (9), 1929-1937
DOI 10.1002/mds.29133, PubMed 35810454

Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC et al. (2022)
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study
Mov Disord, 37 (4), 857-864
DOI 10.1002/mds.28902, PubMed 34997937

Domenighetti C, Sugier PE, Sreelatha AAK, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC et al. (2022)
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease
J Parkinsons Dis, 12 (1), 267-282
DOI 10.3233/JPD-212851, PubMed 34633332

Grover S, Kumar Sreelatha AA, Pihlstrom L, Domenighetti C, Schulte C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Mohamed O, Portugal B, Landoulsi Z, May P, Bobbili D, Edsall C, Bartusch F, Hanussek M, Krüger J, Hernandez DG, Blauwendraat C, Mellick GD, Zimprich A, Pirker W, Tan M, Rogaeva E, Lang A et al. (2022)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium
Neurology, 99 (7), e698-e710
DOI 10.1212/WNL.0000000000200699, PubMed 35970579

Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B et al. (2022)
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Nat Commun, 13 (1), 7496
DOI 10.1038/s41467-022-34732-5, PubMed 36470867

Motazedi E, Cheng W, Thomassen JQ, Frei O, Rongve A, Athanasiu L, Bahrami S, Shadrin A, Ulstein I, Stordal E, Brækhus A, Saltvedt I, Sando SB, O'Connell KS, Hindley G, van der Meer D, Bergh S, Nordestgaard BG, Tybjærg-Hansen A, Bråthen G, Pihlstrøm L, Djurovic S, Frikke-Schmidt R, Fladby T, Aarsland D et al. (2022)
Using Polygenic Hazard Scores to Predict Age at Onset of Alzheimer's Disease in Nordic Populations
J Alzheimers Dis, 88 (4), 1533-1544
DOI 10.3233/JAD-220174, PubMed 35848024

Pihlstrøm L (2022)
[Kavli Prize awarded to four pioneers in neurogenetics]
Tidsskr Nor Laegeforen, 142 (14)
DOI 10.4045/tidsskr.22.0604, PubMed 36226419

Pihlstrøm L, Shireby G, Geut H, Henriksen SP, Rozemuller AJM, Tunold JA, Hannon E, Francis P, Thomas AJ, Love S, Mill J, van de Berg WDJ, Toft M (2022)
Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology
Nat Commun, 13 (1), 4932
DOI 10.1038/s41467-022-32619-z, PubMed 35995800

Stolp Andersen M, Tan M, Holtman IR, Hardy J, International Parkinson's Disease Genomics Consortium, Pihlstrøm L (2022)
Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease
Ann Clin Transl Neurol, 9 (8), 1289-1295
DOI 10.1002/acn3.51606, PubMed 35684951

van Walsem MR, Frich JC, Gómez Castañeda M, Howe EI, Pihlstrøm L, Andelic N, Aas E (2022)
Health related quality of life, service utilization and costs for patients with Huntington's disease in Norway
BMC Health Serv Res, 22 (1), 1527
DOI 10.1186/s12913-022-08881-8, PubMed 36517848

Publications 2021

Alfradique-Dunham I, Al-Ouran R, von Coelln R, Blauwendraat C, Hill E, Luo L, Stillwell A, Young E, Kaw A, Tan M, Liao C, Hernandez D, Pihlstrom L, Grosset D, Shulman LM, Liu Z, Rouleau GA, Nalls M, Singleton AB, Morris H, Jankovic J, Shulman JM (2021)
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
Neurol Genet, 7 (2), e557
DOI 10.1212/NXG.0000000000000557, PubMed 33987465

Andersen MS, Bandres-Ciga S, Reynolds RH, Hardy J, Ryten M, Krohn L, Gan-Or Z, Holtman IR, Pihlstrøm L, International Parkinson's Disease Genomics Consortium (2021)
Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis
Ann Neurol, 89 (5), 942-951
DOI 10.1002/ana.26032, PubMed 33502028

Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A, Pihlstrom L, Torkamani A, Soltis AR, Dalgard CL, American Genome Center, Scholz SW, Traynor BJ, Ehrlich D, Scherzer CR, Bookman M et al. (2021)
Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease
Acta Neuropathol, 142 (1), 223-224
DOI 10.1007/s00401-021-02309-z, PubMed 33944973

Berge-Seidl V, Pihlstrøm L, Toft M (2021)
Integrative analysis identifies bHLH transcription factors as contributors to Parkinson's disease risk mechanisms
Sci Rep, 11 (1), 3502
DOI 10.1038/s41598-021-83087-2, PubMed 33568722

Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG et al. (2021)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease
Ann Neurol, 90 (1), 35-42
DOI 10.1002/ana.26090, PubMed 33901317

Brolin K, Bandres-Ciga S, Leonard H, Makarious MB, Blauwendraat C, Mata IF, Foo JN, Pihlstrøm L, Swanberg M, Gan-Or Z, Tan MM, International Parkinson's Disease Genomics Consortium (2021)
RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts
Neurobiol Aging, 109, 264-268
DOI 10.1016/j.neurobiolaging.2021.08.009, PubMed 34538707

Langmyhr M, Henriksen SP, Cappelletti C, van de Berg WDJ, Pihlstrøm L, Toft M (2021)
Allele-specific expression of Parkinson's disease susceptibility genes in human brain
Sci Rep, 11 (1), 504
DOI 10.1038/s41598-020-79990-9, PubMed 33436766

Pihlstrøm L, Fan CC, Frei O, Tan M, Karunamuni RA, Blauwendraat C, Bandres-Ciga S, Gan-Or Z, Grosset DG, International Parkinson's Disease Genomics Consortium (IPDGC), Dale AM, Seibert TM, Andreassen OA (2021)
Genetic Stratification of Age-Dependent Parkinson's Disease Risk by Polygenic Hazard Score
Mov Disord, 37 (1), 62-69
DOI 10.1002/mds.28808, PubMed 34612543

Tunold JA, Geut H, Rozemuller JMA, Henriksen SP, Toft M, van de Berg WDJ, Pihlstrøm L (2021)
APOE and MAPT Are Associated With Dementia in Neuropathologically Confirmed Parkinson's Disease
Front Neurol, 12, 631145
DOI 10.3389/fneur.2021.631145, PubMed 33613437

Yu E, Ambati A, Andersen MS, Krohn L, Estiar MA, Saini P, Senkevich K, Sosero YL, Sreelatha AAK, Ruskey JA, Asayesh F, Spiegelman D, Toft M, Viken MK, Sharma M, Blauwendraat C, Pihlstrøm L, Mignot E, Gan-Or Z (2021)
Fine mapping of the HLA locus in Parkinson's disease in Europeans
NPJ Parkinsons Dis, 7 (1), 84
DOI 10.1038/s41531-021-00231-5, PubMed 34548497

Publications 2020

Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A, Pihlstrom L, Torkamani A, Soltis AR, Dalgard CL, American Genome Center, Scholz SW, Traynor BJ, Ehrlich D, Scherzer CR, Bookman M et al. (2020)
Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease
Acta Neuropathol, 140 (3), 341-358
DOI 10.1007/s00401-020-02181-3, PubMed 32601912

Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J et al. (2020)
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia
Brain, 143 (1), 234-248
DOI 10.1093/brain/awz350, PubMed 31755958

Iwaki H, Blauwendraat C, Leonard HL, Makarious MB, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Smolensky L, Amondikar N, Hutten SJ, Frasier M, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Gibbs RJ, Day-Williams AG et al. (2020)
Differences in the Presentation and Progression of Parkinson's Disease by Sex
Mov Disord, 36 (1), 106-117
DOI 10.1002/mds.28312, PubMed 33002231

Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F et al. (2020)
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies
Ann Neurol, 87 (4), 584-598
DOI 10.1002/ana.25687, PubMed 31976583

Smeland OB, Shadrin A, Bahrami S, Broce I, Tesli M, Frei O, Wirgenes KV, O'Connell KS, Krull F, Bettella F, Steen NE, Sugrue L, Wang Y, Svenningsson P, Sharma M, Pihlstrøm L, Toft M, O'Donovan M, Djurovic S, Desikan R, Dale AM, Andreassen OA (2020)
Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci
Biol Psychiatry, 89 (3), 227-235
DOI 10.1016/j.biopsych.2020.01.026, PubMed 32201043

Publications 2019

Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z, International Parkinson's Disease Genomics Consortium (IPDGC), Cookson MR, Nalls MA, Singleton AB (2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease
Mov Disord, 34 (4), 460-468
DOI 10.1002/mds.27614, PubMed 30675927

Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J et al. (2019)
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms
Mov Disord, 34 (6), 866-875
DOI 10.1002/mds.27659, PubMed 30957308

Fernandez-Santiago R, Martin-Flores N, Antonelli F, Cerquera C, Moreno V, Bandres-Ciga S, Manduchi E, Tolosa E, Singleton AB, Moore JH, Noyce AJ, Kaiyrzhanov R, Middlehurst B, Kia DA, Tan M, Houlden H, Morris HR, Plun-Favreau H, Holmans P, Hardy J, Trabzuni D, Bras J, Quinn J, Mok KY, Kinghorn KJ et al. (2019)
SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease
Mov. Disord., 34 (9), 1333-1344
DOI 10.1002/mds.27770

Iqbal Z, Koht J, Pihlstrøm L, Henriksen SP, Cappelletti C, Russel MB, Norberto de Souza O, Skogseid IM, Toft M (2019)
Missense mutations in DYT-TOR1A dystonia
Neurol Genet, 5 (4), e343
DOI 10.1212/NXG.0000000000000343, PubMed 31321303

Iwaki H, Blauwendraat C, Leonard HL, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Gibbs JR, International Parkinson's Disease Genomics Consortium, Chitrala KN, Day-Williams AG, Brice A, Alves G et al. (2019)
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts
Mov Disord, 34 (12), 1839-1850
DOI 10.1002/mds.27845, PubMed 31505070

Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP et al. (2019)
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts
Neurol Genet, 5 (4), e348
DOI 10.1212/NXG.0000000000000348, PubMed 31404238

Ligaard J, Sannæs J, Pihlstrøm L (2019)
Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature
NPJ Parkinsons Dis, 5, 18
DOI 10.1038/s41531-019-0091-7, PubMed 31508488

Maeland JG, Pihlstrom L, Skagen KM, Kvale G (2019)
Doctors demand climate action now!
Tidsskr. Nor. Laegeforen., 139 (17), 1636

Makarious MB, Diez-Fairen M, Krohn L, Blauwendraat C, Bandres-Ciga S, Ding J, Pihlstrøm L, Houlden H, Scholz SW, Gan-Or Z (2019)
ARSA variants in α-synucleinopathies
Brain, 142 (12), e70
DOI 10.1093/brain/awz340, PubMed 31670782

Mæland JG, Pihlstrøm L, Skagen KM, Kvåle G (2019)
[Doctors demand climate action now!]
Tidsskr Nor Laegeforen, 139 (17)
DOI 10.4045/tidsskr.19.0657, PubMed 31746170

Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW et al. (2019)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Lancet Neurol, 18 (12), 1091-1102
DOI 10.1016/S1474-4422(19)30320-5, PubMed 31701892

Rongve A, Witoelar A, Ruiz A, Athanasiu L, Abdelnour C, Clarimon J, Heilmann-Heimbach S, Hernández I, Moreno-Grau S, de Rojas I, Morenas-Rodríguez E, Fladby T, Sando SB, Bråthen G, Blanc F, Bousiges O, Lemstra AW, van Steenoven I, Londos E, Almdahl IS, Pålhaugen L, Eriksen JA, Djurovic S, Stordal E, Saltvedt I et al. (2019)
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
Sci Rep, 9 (1), 7013
DOI 10.1038/s41598-019-43458-2, PubMed 31065058

Rongve A, Witoelar A, Ruiz A, Athanasiu L, Abdelnour C, Clarimon J, Heilmann-Heimbach S, Hernández I, Moreno-Grau S, de Rojas I, Morenas-Rodríguez E, Fladby T, Sando SB, Bråthen G, Blanc F, Bousiges O, Lemstra AW, van Steenoven I, Londos E, Almdahl IS, Pålhaugen L, Eriksen JA, Djurovic S, Stordal E, Saltvedt I et al. (2019)
Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
Sci Rep, 9 (1), 15168
DOI 10.1038/s41598-019-51827-0, PubMed 31619746

Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L, Pantelyat A, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H, Pletnikova O, Troncoso J, Scholz SW (2019)
Assessment of APOE in atypical parkinsonism syndromes
Neurobiol Dis, 127, 142-146
DOI 10.1016/j.nbd.2019.02.016, PubMed 30798004

Publications 2018

Berge-Seidl V, Pihlstrøm L, Wszolek ZK, Ross OA, Toft M (2018)
No evidence for DNM3 as genetic modifier of age at onset in idiopathic Parkinson's disease
Neurobiol Aging, 74, 236.e1-236.e5
DOI 10.1016/j.neurobiolaging.2018.09.022, PubMed 30340792

Bjørnarå KA, Pihlstrøm L, Dietrichs E, Toft M (2018)
Risk variants of the α-synuclein locus and REM sleep behavior disorder in Parkinson's disease: a genetic association study
BMC Neurol, 18 (1), 20
DOI 10.1186/s12883-018-1023-6, PubMed 29466944

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR et al. (2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
JAMA Neurol, 75 (11), 1416-1422
DOI 10.1001/jamaneurol.2018.1885, PubMed 30039155

Kishore A, Ashok Kumar Sreelatha A, Sturm M, von-Zweydorf F, Pihlstrøm L, Raimondi F, Russell R, Lichtner P, Banerjee M, Krishnan S, Rajan R, Puthenveedu DK, Chung SJ, International Parkinson's Disease Genomics Consortium (IPDGC), Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD), Bauer P, Riess O, Gloeckner CJ, Kruger R, Gasser T, Sharma M (2018)
Understanding the role of genetic variability in LRRK2 in Indian population
Mov Disord, 34 (4), 496-505
DOI 10.1002/mds.27558, PubMed 30485545

Kristiansen M, Maple-Grødem J, Alves G, Arepalli S, Hernandez DG, Iwaki H, Nalls MA, Singleton A, Tysnes OB, Toft M, Pihlstrøm L (2018)
A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease
Mov Disord, 34 (2), 298-299
DOI 10.1002/mds.27555, PubMed 30484896

Pihlstrøm L, Blauwendraat C, Cappelletti C, Berge-Seidl V, Langmyhr M, Henriksen SP, van de Berg WDJ, Gibbs JR, Cookson MR, International Parkinson Disease Genomics Consortium, North American Brain Expression Consortium, Singleton AB, Nalls MA, Toft M (2018)
A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease
Ann Neurol, 84 (1), 117-129
DOI 10.1002/ana.25274, PubMed 30146727

Pihlstrøm L, Schottlaender L, Chelban V, Houlden H, MSA Exome Consortium (2018)
LRP10 in α-synucleinopathies
Lancet Neurol, 17 (12), 1033-1034
DOI 10.1016/S1474-4422(18)30407-1, PubMed 30507385

Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, Singleton A, Houlden H (2018)
Lysosomal storage disorder gene variants in multiple system atrophy
Brain, 141 (7), e53
DOI 10.1093/brain/awy124, PubMed 29741613

Publications 2017

Berge-Seidl V, Pihlstrøm L, Maple-Grødem J, Forsgren L, Linder J, Larsen JP, Tysnes OB, Toft M (2017)
The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal
Neurosci Lett, 658, 48-52
DOI 10.1016/j.neulet.2017.08.040, PubMed 28830825

Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ et al. (2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
Neurobiol Aging, 57, 247.e9-247.e13
DOI 10.1016/j.neurobiolaging.2017.05.009, PubMed 28602509

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C, International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW (2017)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
Neurobiol Aging, 64, 159.e5-159.e8
DOI 10.1016/j.neurobiolaging.2017.12.012, PubMed 29398121

Ezat B, Pihlstrøm L, Aasly J, Tysnes OB, Egge A, Dietrichs E (2017)
Use of advanced therapies for Parkinson's disease in Norway
Tidsskr Nor Laegeforen, 137 (9), 619-623
DOI 10.4045/tidsskr.16.0711, PubMed 28468476

Fagan ES, Pihlstrøm L (2017)
Genetic risk factors for cognitive decline in Parkinson's disease: a review of the literature
Eur J Neurol, 24 (4), 561-e20
DOI 10.1111/ene.13258, PubMed 28220571

Faiz KW, Pihlstrøm L (2017)
[Parkinson's disease and parkinsonism]
Tidsskr Nor Laegeforen, 137 (4), 298
DOI 10.4045/tidsskr.16.0915, PubMed 28225240

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M (2017)
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (3), e0174667
DOI 10.1371/journal.pone.0174667, PubMed 28362824

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CME, Toft M (2017)
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (10), e0186571
DOI 10.1371/journal.pone.0186571, PubMed 29023604

Pihlstrøm L (2017)
[Not Available]
Tidsskr Nor Laegeforen, 137 (5), 388
DOI 10.4045/tidsskr.17.0070, PubMed 28272576

Pihlstrøm L, Wiethoff S, Houlden H (2017)
Genetics of neurodegenerative diseases: an overview
Handb Clin Neurol, 145, 309-323
DOI 10.1016/B978-0-12-802395-2.00022-5, PubMed 28987179

Publications 2016

Chelban V, Manole A, Pihlstrøm L, Schottlaender L, Efthymiou S, OConnor E, Meissner WG, Holton JL, Houlden H (2016)
Analysis of the prion protein gene in multiple system atrophy
Neurobiol Aging, 49, 216.e15-216.e18
DOI 10.1016/j.neurobiolaging.2016.09.021, PubMed 27793473

Iqbal Z, Pihlstrøm L, Rengmark A, Henriksen SP, Linder J, Forsgren L, Toft M (2016)
Rare variants in dementia genes and Parkinson's disease
Eur J Hum Genet, 24 (12), 1661-1662
DOI 10.1038/ejhg.2016.79, PubMed 27329738

Pihlstrøm L (2016)
[Not Available]
Tidsskr Nor Laegeforen, 136 (10), 944
DOI 10.4045/tidsskr.16.0422, PubMed 27272377

Pihlstrøm L (2016)
[Not Available]
Tidsskr Nor Laegeforen, 136 (18), 1570
DOI 10.4045/tidsskr.16.0796, PubMed 27731607

Pihlstrøm L, Morset KR, Grimstad E, Vitelli V, Toft M (2016)
A cumulative genetic risk score predicts progression in Parkinson's disease
Mov Disord, 31 (4), 487-90
DOI 10.1002/mds.26505, PubMed 26853697

Rengmark A, Pihlstrøm L, Linder J, Forsgren L, Toft M (2016)
Low frequency of GCH1 and TH mutations in Parkinson's disease
Parkinsonism Relat Disord, 29, 109-11
DOI 10.1016/j.parkreldis.2016.05.010, PubMed 27185167

Publications 2015

Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J et al. (2015)
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease
Alzheimers Dement, 11 (12), 1407-1416
DOI 10.1016/j.jalz.2014.12.009, PubMed 25936935

Pihlstrom L (2015)
The old man and his coat
Tidsskr. Nor. Laegeforen., 135 (2), 162
DOI 10.4045/tidsskr.14.1517

Pihlstrom L (2015)
With beard in your inbox
Tidsskr. Nor. Laegeforen., 135 (7), 676
DOI 10.4045/tidsskr.15.0283

Pihlstrøm L (2015)
[The wonders of practical teaching]
Tidsskr Nor Laegeforen, 135 (20), 1878
DOI 10.4045/tidsskr.15.1014, PubMed 26534820

Pihlstrøm L, Rengmark A, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Dietrichs E, Toft M (2015)
Fine mapping and resequencing of the PARK16 locus in Parkinson's disease
J Hum Genet, 60 (7), 357-62
DOI 10.1038/jhg.2015.34, PubMed 25855069

Pihlstrøm L, Toft M (2015)
Cumulative genetic risk and age at onset in Parkinson's disease
Mov Disord, 30 (12), 1712-3
DOI 10.1002/mds.26366, PubMed 26234887

Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P et al. (2015)
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Neurology, 85 (15), 1283-92
DOI 10.1212/WNL.0000000000002016, PubMed 26354989

Publications 2014

Pihlstrøm L (2014)
[Re: Affection for affection]
Tidsskr Nor Laegeforen, 134 (20), 1920
DOI 10.4045/tidsskr.14.1211, PubMed 25350431

Pihlstrøm L, Berge V, Rengmark A, Toft M (2014)
Parkinson's disease correlates with promoter methylation in the α-synuclein gene
Mov Disord, 30 (4), 577-80
DOI 10.1002/mds.26073, PubMed 25545759

Pihlstrøm L, Nedregaard B, Krossnes B, Aamodt AH (2014)
[Septic embolus]
Tidsskr Nor Laegeforen, 134 (9), 945
DOI 10.4045/tidsskr.13.1656, PubMed 24828721

Pihlstrøm L, Rengmark A, Bjørnarå KA, Toft M (2014)
Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease
Ann Hum Genet, 78 (3), 243-52
DOI 10.1111/ahg.12060, PubMed 24660942

Publications 2012

Pihlstrøm L, Axelsson G, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Ohman E, Dietrichs E, Toft M (2012)
Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease
Neurobiol Aging, 34 (6), 1708.e7-13
DOI 10.1016/j.neurobiolaging.2012.10.019, PubMed 23153929

Publications 2011

Kvåle G, Fadnes LT, Tryland M, Pihlstrøm L (2011)
Climate change--the biggest health threat of our time
Tidsskr Nor Laegeforen, 131 (17), 1670-2
DOI 10.4045/tidsskr.11.0607, PubMed 21901045

Pihlstrøm L (2011)
[The sardonic smile]
Tidsskr Nor Laegeforen, 131 (24), 2500-3
DOI 10.4045/tidsskr.11.0256, PubMed 22170142

Pihlstrøm L, Alfstad KÅ, Solyga V, Ringstad GA, Kerty E (2011)
[A 55-year old man with recurrent brain infarction]
Tidsskr Nor Laegeforen, 131 (11), 1089-91
DOI 10.4045/tidsskr.10.0162, PubMed 21681238

Pihlstrøm L, Toft M (2011)
Genetic variability in SNCA and Parkinson's disease
Neurogenetics, 12 (4), 283-93
DOI 10.1007/s10048-011-0292-7, PubMed 21800132

Pihlstrøm L, Toft M (2011)
Parkinson's disease: What remains of the "missing heritability"?
Mov Disord, 26 (11), 1971-3
DOI 10.1002/mds.23898, PubMed 21812035