Publications

Publications published since 2003 by Mathias Toft

115 publications found

Publications 2024

1. 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
2. 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
3. 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
4. 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
5. Kakar N, Mascarenhas S, Ali A, Azmatullah, Ijlal Haider SM, Badiger VA, Ghofrani MS, Kruse N, Hashmi SN, Pozojevic J, Balachandran S, Toft M, Malik S, Händler K, Fatima A, Iqbal Z, Shukla A, Spielmann M, Radhakrishnan P (2024)
   Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
   Hum Genet (in press)
   DOI 10.1007/s00439-024-02718-6, PubMed 39708122
6. 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
7. 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
8. 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
9. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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

1. 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
2. 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
3. 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
4. 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
5. 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

1. 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
2. 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
3. Flengsrud K, Toft M, Dietrichs E (2019)
   [Essential tremor]
   Tidsskr Nor Laegeforen, 139 (8)
   DOI 10.4045/tidsskr.18.0904, PubMed 31062562
4. Flengsrud K, Toft M, Dietrichs E (2019)
   Essential tremor
   Tidsskr. Nor. Laegeforen., 139 (8), 722-725
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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

1. 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
2. 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
3. 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
4. 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

1. 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
2. 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
3. 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
4. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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

1. 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
2. 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

1. 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
2. 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

1. 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
2. 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
3. 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
4. Toft M (2011)
   The Wilson films--MS tremor
   Mov Disord, 26 (14), 2471-2
   DOI 10.1002/mds.24010, PubMed 22170271
5. Toft M (2011)
   Dopaminergic Neurons Generated Directly From Human Fibroblasts
   Mov. Disord., 26 (11), 1975
   DOI 10.1002/mds.23938
6. 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
7. 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
8. 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

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

1. 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
2. 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
3. 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

1. 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
2. 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
3. Toft M (2007)
   A patient's journey - The reluctant patient: Parkinson's disease - A doctor's perspective
   Br. Med. J., 335 (7627), 990
4. 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
5. 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

1. 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
2. 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
3. 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
4. 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

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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

1. 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
2. Toft M, Aasly J (2004)
   [The genetics of Parkinson disease]
   Tidsskr Nor Laegeforen, 124 (7), 922-4
   PubMed 15060636