Publications 2024

Afridi TUK, Fatima A, Satti HS, Akram Z, Yousafzai IK, Naeem WB, Fatima N, Ali A, Iqbal Z, Khan A, Shahzad M, Liu C, Toft M, Zhang F, Tariq M, Davis EE, Khan TN (2024)
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN
Mol Genet Genomics, 299 (1), 55
DOI 10.1007/s00438-024-02149-y, PubMed 38771357

Bahrami S, Nordengen K, Rokicki J, Shadrin AA, Rahman Z, Smeland OB, Jaholkowski PP, Parker N, Parekh P, O'Connell KS, Elvsåshagen T, Toft M, Djurovic S, Dale AM, Westlye LT, Kaufmann T, Andreassen OA (2024)
The genetic landscape of basal ganglia and implications for common brain disorders
Nat Commun, 15 (1), 8476
DOI 10.1038/s41467-024-52583-0, PubMed 39353893

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

Haraldsen IH, Hatlestad-Hall C, Marra C, Renvall H, Maestú F, Acosta-Hernández J, Alfonsin S, Andersson V, Anand A, Ayllón V, Babic A, Belhadi A, Birck C, Bruña R, Caraglia N, Carrarini C, Christensen E, Cicchetti A, Daugbjerg S, Di Bidino R, Diaz-Ponce A, Drews A, Giuffrè GM, Georges J, Gil-Gregorio P et al. (2024)
Intelligent digital tools for screening of brain connectivity and dementia risk estimation in people affected by mild cognitive impairment: the AI-Mind clinical study protocol
Front Neurorobot, 17, 1289406
DOI 10.3389/fnbot.2023.1289406, PubMed 38250599

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

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

Toft M (2024)
New gene involved in the pathogenesis of Parkinson's disease
Lancet Neurol, 23 (6), 550-552
DOI 10.1016/S1474-4422(24)00166-2, PubMed 38614109

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

Guterud M, Fagerheim Bugge H, Røislien J, Kramer-Johansen J, Toft M, Ihle-Hansen H, Bache KG, Larsen K, Braarud AC, Sandset EC, Ranhoff Hov M (2023)
Prehospital screening of acute stroke with the National Institutes of Health Stroke Scale (ParaNASPP): a stepped-wedge, cluster-randomised controlled trial
Lancet Neurol, 22 (9), 800-811
DOI 10.1016/S1474-4422(23)00237-5, PubMed 37596006

Staubo SC, Fuskevåg OM, Toft M, Lie IH, Alvik KMJ, Jostad P, Tingvoll SH, Lilleng H, Rosqvist K, Størset E, Odin P, Dietrichs E, Dietrichs ES (2023)
Dopamine agonist serum concentrations and impulse control disorders in Parkinson's disease
Eur J Neurol, 31 (2), e16144
DOI 10.1111/ene.16144, PubMed 37955562

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

Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z (2023)
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Genes (Basel), 14 (7)
DOI 10.3390/genes14071404, PubMed 37510308

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

Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L et al. (2023)
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Mov Disord, 38 (2), 286-303
DOI 10.1002/mds.29288, PubMed 36692014

Yousaf H, Rehmat S, Jameel M, Ibrahim R, Hashmi SN, Makhdoom EUH, Iwaszkiewicz J, Saadi SM, Tariq M, Baig SM, Toft M, Fatima A, Iqbal Z (2023)
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability
Clin Genet, 104 (3), 324-333
DOI 10.1111/cge.14386, PubMed 37317634

Publications 2022

Bugge HF, Guterud M, Bache KCG, Braarud AC, Eriksen E, Fremstad KO, Ihle-Hansen H, Ingebretsen SH, Kramer-Johansen J, Larsen K, Røislien J, Thorsen K, Toft M, Sandset EC, Hov MR (2022)
Paramedic Norwegian Acute Stroke Prehospital Project (ParaNASPP) study protocol: a stepped wedge randomised trial of stroke screening using the National Institutes of Health Stroke Scale in the ambulance
Trials, 23 (1), 113
DOI 10.1186/s13063-022-06006-4, PubMed 35120559

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

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

Yousaf H, Fatima A, Ali Z, Baig SM, Toft M, Iqbal Z (2022)
A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
Genes (Basel), 13 (9)
DOI 10.3390/genes13091667, PubMed 36140834

Publications 2021

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

Bjerknes S, Toft M, Brandt R, Rygvold TW, Konglund A, Dietrichs E, Andersson S, Skogseid IM (2021)
Subthalamic Nucleus Stimulation in Parkinson's Disease: 5-Year Extension Study of a Randomized Trial
Mov Disord Clin Pract, 9 (1), 48-59
DOI 10.1002/mdc3.13348, PubMed 35005065

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

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

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

Bjerknes S, Skogseid IM, Hauge TJ, Dietrichs E, Toft M (2020)
Subthalamic deep brain stimulation improves sleep and excessive sweating in Parkinson's disease
NPJ Parkinsons Dis, 6, 29
DOI 10.1038/s41531-020-00131-0, PubMed 33083523

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

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

Flengsrud K, Toft M, Dietrichs E (2019)
[Essential tremor]
Tidsskr Nor Laegeforen, 139 (8)
DOI 10.4045/tidsskr.18.0904, PubMed 31062562

Flengsrud K, Toft M, Dietrichs E (2019)
Essential tremor
Tidsskr. Nor. Laegeforen., 139 (8), 722-725

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

Iqbal Z, Toft M (2019)
TMEM230 variants in Parkinson's disease
Nat Genet, 51 (3), 366
DOI 10.1038/s41588-019-0353-7, PubMed 30804555

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

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

Puschmann A, Jiménez-Ferrer I, Lundblad-Andersson E, Mårtensson E, Hansson O, Odin P, Widner H, Brolin K, Mzezewa R, Kristensen J, Soller M, Rödström EY, Ross OA, Toft M, Breedveld GJ, Bonifati V, Brodin L, Zettergren A, Sydow O, Linder J, Wirdefeldt K, Svenningsson P, Nissbrandt H, Belin AC, Forsgren L et al. (2019)
Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study
Parkinsonism Relat Disord, 66, 158-165
DOI 10.1016/j.parkreldis.2019.07.032, PubMed 31422003

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

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

Bjerknes S, Toft M, Konglund AE, Pham U, Waage TR, Pedersen L, Skjelland M, Haraldsen I, Andersson S, Dietrichs E, Skogseid IM (2018)
Multiple Microelectrode Recordings in STN-DBS Surgery for Parkinson's Disease: A Randomized Study
Mov Disord Clin Pract, 5 (3), 296-305
DOI 10.1002/mdc3.12621, PubMed 30009214

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

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

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, 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

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

Publications 2016

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, 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

Toft M, Ross OA (2016)
Exome Variant Mining in Familial Parkinson Disease: Will Replication Find the Gold?
JAMA Neurol, 73 (1), 21-2
DOI 10.1001/jamaneurol.2015.3536, PubMed 26595415

Publications 2015

Iqbal Z, Toft M (2015)
CHCHD2 and Parkinson's disease
Lancet Neurol, 14 (7), 680-1
DOI 10.1016/S1474-4422(15)00096-4, PubMed 26067113

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

Pham U, Solbakk AK, Skogseid IM, Toft M, Pripp AH, Konglund AE, Andersson S, Haraldsen IR, Aarsland D, Dietrichs E, Malt UF (2015)
Personality changes after deep brain stimulation in Parkinson's disease
Parkinsons Dis, 2015, 490507
DOI 10.1155/2015/490507, PubMed 25705545

Pham UH, Andersson S, Toft M, Pripp AH, Konglund AE, Dietrichs E, Malt UF, Skogseid IM, Haraldsen IR, Solbakk AK (2015)
Self-Reported Executive Functioning in Everyday Life in Parkinson's Disease after Three Months of Subthalamic Deep Brain Stimulation
Parkinsons Dis, 2015, 461453
DOI 10.1155/2015/461453, PubMed 26167329

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

Bjerknes S, Skogseid IM, Sæhle T, Dietrichs E, Toft M (2014)
Surgical site infections after deep brain stimulation surgery: frequency, characteristics and management in a 10-year period
PLoS One, 9 (8), e105288
DOI 10.1371/journal.pone.0105288, PubMed 25122445

Bjørnarå KA, Dietrichs E, Toft M (2014)
Clinical features associated with sleep disturbances in Parkinson's disease
Clin Neurol Neurosurg, 124, 37-43
DOI 10.1016/j.clineuro.2014.06.027, PubMed 25016237

Børretzen MN, Bjerknes S, Sæhle T, Skjelland M, Skogseid IM, Toft M, Dietrichs E (2014)
Long-term follow-up of thalamic deep brain stimulation for essential tremor - patient satisfaction and mortality
BMC Neurol, 14, 120
DOI 10.1186/1471-2377-14-120, PubMed 24903550

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M (2014)
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Acta Neurol Scand Suppl (198), 7-12
DOI 10.1111/ane.12230, PubMed 24588500

Lilleeng B, Brønnick K, Toft M, Dietrichs E, Larsen JP (2014)
Progression and survival in Parkinson's disease with subthalamic nucleus stimulation
Acta Neurol Scand, 130 (5), 292-8
DOI 10.1111/ane.12224, PubMed 24495107

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, 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

Toft M (2014)
Advances in genetic diagnosis of neurological disorders
Acta Neurol Scand Suppl (198), 20-5
DOI 10.1111/ane.12232, PubMed 24588502

Publications 2013

Karlsson MK, Sharma P, Aasly J, Toft M, Skogar O, Sæbø S, Lönneborg A (2013)
Found in transcription: accurate Parkinson's disease classification in peripheral blood
J Parkinsons Dis, 3 (1), 19-29
DOI 10.3233/JPD-120159, PubMed 23938308

Toft M, Dietrichs E (2013)
Medication costs following subthalamic nucleus deep brain stimulation for Parkinson's disease
Mov Disord, 29 (2), 275-6
DOI 10.1002/mds.25504, PubMed 23696136

Publications 2012

Bjørnarå KA, Dietrichs E, Toft M (2012)
REM sleep behavior disorder in Parkinson's disease--is there a gender difference?
Parkinsonism Relat Disord, 19 (1), 120-2
DOI 10.1016/j.parkreldis.2012.05.027, PubMed 22726815

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

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

Toft M (2011)
International consortium identifies new genetic risk factors for Parkinson's disease
Mov Disord, 26 (4), 606
DOI 10.1002/mds.23725, PubMed 21648125

Toft M (2011)
The Wilson films--MS tremor
Mov Disord, 26 (14), 2471-2
DOI 10.1002/mds.24010, PubMed 22170271

Toft M (2011)
Dopaminergic Neurons Generated Directly From Human Fibroblasts
Mov. Disord., 26 (11), 1975
DOI 10.1002/mds.23938

Toft M, Dietrichs E (2011)
Aggravated stuttering following subthalamic deep brain stimulation in Parkinson's disease--two cases
BMC Neurol, 11, 44
DOI 10.1186/1471-2377-11-44, PubMed 21477305

Toft M, Dietrichs E (2011)
Levodopa-responsive parkinsonism in probable extrapontine myelinolysis of the mesencephalon
Mov Disord, 26 (12), 2180-1
DOI 10.1002/mds.23876, PubMed 22021157

Toft M, Lilleeng B, Ramm-Pettersen J, Skogseid IM, Gundersen V, Gerdts R, Pedersen L, Skjelland M, Røste GK, Dietrichs E (2011)
Long-term efficacy and mortality in Parkinson's disease patients treated with subthalamic stimulation
Mov Disord, 26 (10), 1931-4
DOI 10.1002/mds.23817, PubMed 21656853

Publications 2010

Toft M, Ross OA (2010)
Copy number variation in Parkinson's disease
Genome Med, 2 (9), 62
DOI 10.1186/gm183, PubMed 20828427

Aasly JO, Vilariño-Güell C, Dachsel JC, Webber PJ, West AB, Haugarvoll K, Johansen KK, Toft M, Nutt JG, Payami H, Kachergus JM, Lincoln SJ, Felic A, Wider C, Soto-Ortolaza AI, Cobb SA, White LR, Ross OA, Farrer MJ (2010)
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
Mov Disord, 25 (13), 2156-63
DOI 10.1002/mds.23265, PubMed 20669305

Publications 2008

Haugarvoll K, Toft M, Skipper L, Heckman MG, Crook JE, Soto A, Ross OA, Hulihan MM, Kachergus JM, Sando SB, White LR, Lynch T, Gibson JM, Uitti RJ, Wszolek ZK, Aasly JO, Farrer MJ (2008)
Fine-mapping and candidate gene investigation within the PARK10 locus
Eur J Hum Genet, 17 (3), 336-43
DOI 10.1038/ejhg.2008.187, PubMed 18854859

Ross OA, Toft M, Haugarvoll K (2008)
Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations
Neurology, 71 (4), 303; author reply 303-4
DOI 10.1212/01.wnl.0000320511.30222.dd, PubMed 18645174

Toft M, Lilleeng B, Ramm-Pettersen J, Røste GK, Pedersen L, Skogseid IM, Dietrichs E (2008)
[Treatment of movement disorders with deep brain stimulation]
Tidsskr Nor Laegeforen, 128 (17), 1972-6
PubMed 18787575

Publications 2007

Haugarvoll K, Toft M, Ross OA, Stone JT, Heckman MG, White LR, Lynch T, Gibson JM, Wszolek ZK, Uitti RJ, Aasly JO, Farrer MJ (2007)
ELAVL4, PARK10, and the Celts
Mov Disord, 22 (4), 585-7
DOI 10.1002/mds.21336, PubMed 17230446

Haugarvoll K, Toft M, Ross OA, White LR, Aasly JO, Farrer MJ (2007)
Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
Neurosci Lett, 416 (3), 299-301
DOI 10.1016/j.neulet.2007.02.020, PubMed 17324517

Toft M (2007)
A patient's journey - The reluctant patient: Parkinson's disease - A doctor's perspective
Br. Med. J., 335 (7627), 990

Toft M, Mata IF, Ross OA, Kachergus J, Hulihan MM, Haugarvoll K, Stone JT, Blazquez M, Gibson JM, Aasly JO, White LR, Lynch T, Adler CH, Gwinn-Hardy K, Farrer MJ (2007)
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Mov Disord, 22 (3), 389-92
DOI 10.1002/mds.21217, PubMed 17216639

White LR, Toft M, Kvam SN, Farrer MJ, Aasly JO (2007)
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
J Neurosci Res, 85 (6), 1288-94
DOI 10.1002/jnr.21240, PubMed 17385669

Publications 2006

Dächsel JC, Ross OA, Mata IF, Kachergus J, Toft M, Cannon A, Baker M, Adamson J, Hutton M, Dickson DW, Farrer MJ (2006)
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
Acta Neuropathol, 113 (5), 601-6
DOI 10.1007/s00401-006-0178-1, PubMed 17151837

Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M (2006)
Genomewide association, Parkinson disease, and PARK10
Am J Hum Genet, 78 (6), 1084-8; author reply 1092-4
DOI 10.1086/504728, PubMed 16685661

Papapetropoulos S, Singer C, Ross OA, Toft M, Johnson JL, Farrer MJ, Mash DC (2006)
Clinical heterogeneity of the LRRK2 G2019S mutation
Arch Neurol, 63 (9), 1242-6
DOI 10.1001/archneur.63.9.1242, PubMed 16966501

Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW (2006)
Lrrk2 and Lewy body disease
Ann Neurol, 59 (2), 388-93
DOI 10.1002/ana.20731, PubMed 16437559

Publications 2005

Biancalana V, Toft M, Le Ber I, Tison F, Scherrer E, Thibodeau S, Mandel JL, Brice A, Farrer MJ, Dürr A (2005)
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
Arch Neurol, 62 (6), 962-6
DOI 10.1001/archneur.62.6.962, PubMed 15956167

Gosal D, Ross OA, Wiley J, Irvine GB, Johnston JA, Toft M, Mata IF, Kachergus J, Hulihan M, Taylor JP, Lincoln SJ, Farrer MJ, Lynch T, Mark Gibson J (2005)
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD
Parkinsonism Relat Disord, 11 (6), 349-52
DOI 10.1016/j.parkreldis.2005.05.004, PubMed 16102999

Haugen T, Toft M, Müller CR, Aasly J (2005)
[Malignant hyperthermia--a hereditary and potentially life-threatening condition]
Tidsskr Nor Laegeforen, 125 (20), 2792-4
PubMed 16244682

Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M (2005)
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
Am J Hum Genet, 76 (4), 672-80
DOI 10.1086/429256, PubMed 15726496

Toft M, Farrer M (2005)
Premutation alleles and fragile X-associated tremor/ataxia syndrome
JAMA, 293 (3), 296; author reply 296-7
DOI 10.1001/jama.293.3.296-a, PubMed 15657320

Toft M, Mata IF, Kachergus JM, Ross OA, Farrer MJ (2005)
LRRK2 mutations and Parkinsonism
Lancet, 365 (9466), 1229-30
DOI 10.1016/S0140-6736(05)74809-1, PubMed 15811454

Toft M, Sando SB, Melquist S, Ross OA, White LR, Aasly JO, Farrer MJ (2005)
LRRK2 mutations are not common in Alzheimer's disease
Mech Ageing Dev, 126 (11), 1201-5
DOI 10.1016/j.mad.2005.06.010, PubMed 16087219

Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ (2005)
Parkinsonism, FXTAS, and FMR1 premutations
Mov Disord, 20 (2), 230-3
DOI 10.1002/mds.20297, PubMed 15390127

Aasly JO, Toft M, Fernandez-Mata I, Kachergus J, Hulihan M, White LR, Farrer M (2005)
Clinical features of LRRK2-associated Parkinson's disease in central Norway
Ann Neurol, 57 (5), 762-5
DOI 10.1002/ana.20456, PubMed 15852371

Publications 2004

Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, Ross OA, Hutton M, Aasly J, Farrer M (2004)
Linkage disequilibrium and association of MAPT H1 in Parkinson disease
Am J Hum Genet, 75 (4), 669-77
DOI 10.1086/424492, PubMed 15297935

Toft M, Aasly J (2004)
[The genetics of Parkinson disease]
Tidsskr Nor Laegeforen, 124 (7), 922-4
PubMed 15060636