Dalbro SE, Pihlstrøm L, Kerty E, Toft M(2026) Pupil-light reflex in early-stage Parkinson's disease J Parkinsons Dis, 16(4), 803-805 DOI 10.1177/1877718X261436290, PubMed 41949462
Geithus S, Flønes IH, Alves G, Tysnes OB, van de Berg WDJ, Pihlstrøm L, Nido GS, Tzoulis C(2026) Comparative transcriptomics reveal molecular convergence and divergence in parkinsonian disorders Brain(in press) DOI 10.1093/brain/awag153, PubMed 42052893
Kaddoura A, Dalbro SEJ, van Walsem MR, Pihlstrøm L(2026) Assessing the prognostic value of early oculomotor abnormalities in Huntington's disease Front Neurol, 17, 1844433 DOI 10.3389/fneur.2026.1844433, PubMed 42376453
Landoulsi Z, Sreelatha AAK, Kuznetsov N, Schulte C, Bobbili DR, Montanucci L, Leu C, Niestroj LM, Hassanin E, Domenighetti C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Portugal B, Edsall C, Krüger J, Hernandez DG, Blauwendraat C, Mellick GD, Zimprich A, Pirker W, Tan M, Rogaeva E, Lang A, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MCet al.(2026) Genome-wide association study of copy number variations in Parkinson's disease NPJ Parkinsons Dis, 12(1) DOI 10.1038/s41531-025-01245-z, PubMed 42009659
Vincze K, Szwajda A, Ploner A, Karlsson R, Kang X, Tang B, Qin C, Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, 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 MCet al.(2026) Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset NPJ Parkinsons Dis, 12(1) DOI 10.1038/s41531-026-01398-5, PubMed 42209523
Publications 2025
Lie IH, Maurtveten EH, Andersen MS, Dalbro SEJ, Tunold JA, Pihlstrøm L(2025) The Menstrual Cycle and Pregnancy Commonly Impact Symptoms of Women with Early-Onset Parkinson's Disease Mov Disord Clin Pract, 13(5), 1236-1244 DOI 10.1002/mdc3.70438, PubMed 41235605
Lie IH, Tan MMX, Andersen MS, Toft M, Pihlstrøm L(2025) Epigenome-wide association study, meta-analysis, and multiscore profiling of whole blood in Parkinson's disease Ann Clin Transl Neurol, 12(4), 701-713 DOI 10.1002/acn3.52292, PubMed 39907161
Sosero YL, Heilbron K, Fontanillas P, Norcliffe-Kaufmann L, Yu E, Rudakou U, Ruskey JA, Freeman K, Asayesh F, Brolin KA, Swanberg M, Morris HR, Wu L, Real R, Pihlstrøm L, Tan M, Gasser T, Brockmann K, Liu H, Hu MTM, Grosset DG, Lewis SJG, Kwok JB, Pastor P, Alvarez I, Skorvanek M, Lackova A, Ostrozovicova M, Rizig M, 23andMe Research Teamet al.(2025) Genome-wide association study of REM sleep behavior disorder in Parkinson's disease NPJ Parkinsons Dis, 11(1), 272 DOI 10.1038/s41531-025-01078-w, PubMed 40998812
Udayar V, Gilormini PA, Bryois J, Gehrlein A, Chen X, Sonea S, Zhu S, Deen MC, Anastasi N, Murphy AE, Skene N, Tan MMX, Tunold JA, Roudnicky F, van de Berg WDJ, Pihlstrøm L, Vocadlo DJ, Jagasia R(2025) Enzyme Activity-Based Genome-wide Screening for Modifiers of Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors for Parkinson's Disease ACS Cent Sci, 11(10), 1933-1945 DOI 10.1021/acscentsci.5c00240, PubMed 41142333
van Wetering J, 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(2025) Correction: Neuroinflammation is associated with Alzheimer's disease co-pathology in dementia with Lewy bodies Acta Neuropathol Commun, 13(1), 250 DOI 10.1186/s40478-025-02169-8, PubMed 41366818
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, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis Eet 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
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, Artaud F, Brice A, Corvol JC, Aasly J, Farrer MJet 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
van Wetering J, 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, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall Cet 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, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis Eet 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, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis Eet 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, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis Eet 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, Koks S, Taba P, Lesage S, Brice A, Corvol JCet 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, Stefani A, Ibrahim A, Šonka K, Kemlink D, Oertel Wet 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, Selbæk G, Seibert TM, Dale AM, Fan CC, Andreassen OA(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, Cookson M, Blauwendraat C, Nalls MA, Singleton AB, International Parkinson Disease Genomics Consortium(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, Lesage S, Corvol JC, Brice A, Wood N, Hardy Jet 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, Cookson M, Blauwendraat C, Nalls MA, Singleton AB, International Parkinson Disease Genomics Consortium(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, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa Ket 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, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JRet 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, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu Met 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, 23andMe Research Team, Eerola-Rautio J, Tienari P, Majamaa K, Toft Met 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, Billingsley K, Wood NW, Lewis P, Schreglmann S, Guerreiro Ret 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, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada Ket 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, Estrada K, Wegel CE, Danjou F, Simon DK, Ravina Bet 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
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, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic Jet 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, Ulstein ID, Bettella F, Desikan RS, Idland AV, Toft Met 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, Ulstein ID, Bettella F, Desikan RS, Idland AV, Toft Met 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, Scholz SW, Nalls MA, Singleton AB, Cookson MR, COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC)(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, 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, Chia R, Chung SJ, International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hardy JA, Brice Aet 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, 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) Den kulturelle legekofferten Tidsskr Nor Laegeforen, 136(10), 944 DOI 10.4045/tidsskr.16.0422, PubMed 27272377
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, Partch A, Restagno G, Rujescu D, Schnack C, Shaw CEet 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, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KEet 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, 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
Kaddoura A, Dalbro SEJ, van Walsem MR, Pihlstrøm L(2026) Assessing the prognostic value of early oculomotor abnormalities in Huntington's disease Front Neurol, 17, 1844433 DOI 10.3389/fneur.2026.1844433, PubMed 42376453
Vincze K, Szwajda A, Ploner A, Karlsson R, Kang X, Tang B, Qin C, Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, 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 MCet al.(2026) Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset NPJ Parkinsons Dis, 12(1) DOI 10.1038/s41531-026-01398-5, PubMed 42209523
Geithus S, Flønes IH, Alves G, Tysnes OB, van de Berg WDJ, Pihlstrøm L, Nido GS, Tzoulis C(2026) Comparative transcriptomics reveal molecular convergence and divergence in parkinsonian disorders Brain(in press) DOI 10.1093/brain/awag153, PubMed 42052893