Mathias Toft

• Tan, Manuela; Lawton, Michael A.; Pollard, Miriam I.; Brown, Emmeline; Real, Raquel & Carrasco, Alejandro Martinez [Show all 40 contributors for this article] (2024). Genome-wide determinants of mortality and motor progression in Parkinson’s disease. NPJ Parkinson's Disease. ISSN 2373-8057. 10(1). doi: 10.1038/s41531-024-00729-8.
• Afridi, Tehseen Ullah Khan; Fatima, Ambrin; Satti, Humayoon Shafique; Akram, Zaineb; Yousafzai, Imran Khan & Naeem, Wajahat Bin [Show all 17 contributors for this article] (2024). Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN. Molecular Genetics and Genomics. ISSN 1617-4615. 299(1). doi: 10.1007/s00438-024-02149-y.
• Nordengen, Kaja; Cappelletti, Chiara; Bahrami, Shahram; Frei, Oleksandr; Pihlstrøm, Lasse & Henriksen, Sandra Pilar [Show all 11 contributors for this article] (2023). Pleiotropy with sex-specific traits reveals genetic aspects of sex differences in Parkinson’s disease. Brain. ISSN 0006-8950. 147(3), p. 858–870. doi: 10.1093/brain/awad297. Full text in Research Archive
• Tunold, Jon-Anders; Tan, Manuela; Toft, Mathias; Ross, Owen; van de Berg, Wilma D.J. & Pihlstrøm, Lasse (2023). Lysosomal Polygenic Burden Drives Cognitive Decline in Parkinson's Disease with Low Alzheimer Risk. Movement Disorders. ISSN 0885-3185. doi: 10.1002/mds.29698. Full text in Research Archive
• Andersen, Maren Stolp; Leikfoss, Ingvild Sørum; Brorson, Ina Skaara; Cappelletti, Chiara; Bettencourt, Conceicao & Toft, Mathias [Show all 7 contributors for this article] (2023). Epigenome-wide association study of peripheral immune cell populations in Parkinson’s disease. NPJ Parkinson's Disease. ISSN 2373-8057. 9(1). doi: 10.1038/s41531-023-00594-x.
• Staubo, Sara Cecilie; Fuskevåg, Ole Martin; Toft, Mathias; Lie, Ingeborg Haugesag; Alvik, Kirsti Margrete Johansen & Jostad, Pål [Show all 13 contributors for this article] (2023). Dopamine agonist serum concentrations and impulse control disorders in Parkinson's disease. European Journal of Neurology. ISSN 1351-5101. 31(2). doi: 10.1111/ene.16144. Full text in Research Archive
• Tunold, Jon-Anders; Tan, Manuela; Koga, Shunsuke; Geut, Hanneke; Rozemuller, Annemieke J. M & Valentino, Rebecca [Show all 16 contributors for this article] (2023). Lysosomal polygenic risk is associated with the severity of neuropathology in Lewy body disease. Brain. ISSN 0006-8950. 146(10), p. 4077–4087. doi: 10.1093/brain/awad183. Full text in Research Archive
• Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad; Zafar, Ghazala & Khan, Haq Nawaz [Show all 18 contributors for this article] (2023). Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders. Genes. ISSN 2073-4425. 14(7). doi: 10.3390/genes14071404. Full text in Research Archive
• Guterud, Mona; Bugge, Helge Fagerheim; Røislien, Jo; Kramer-Johansen, Jo; Toft, Mathias & Ihle-Hansen, Hege Beathe [Show all 11 contributors for this article] (2023). Prehospital screening of acute stroke with the National Institutes of Health Stroke Scale (ParaNASPP): a stepped-wedge, cluster-randomised controlled trial. Lancet Neurology. ISSN 1474-4422. 22(9), p. 800–811. doi: 10.1016/S1474-4422(23)00237-5.
• Cappelletti, Chiara; Henriksen, Sandra Pilar; Geut, Hanneke; Rozemuller, Annemieke J. M.; van de Berg, Wilma D. J. & Pihlstrøm, Lasse [Show all 7 contributors for this article] (2023). Transcriptomic profiling of Parkinson's disease brains reveals disease stage specific gene expression changes. Acta Neuropathologica. ISSN 0001-6322. 146, p. 227–244. doi: 10.1007/s00401-023-02597-7. Full text in Research Archive Show summary

  Parkinson´s disease (PD) is a progressive neurodegenerative disorder characterized by both motor and non-motor symptoms. Aggravation of symptoms is mirrored by accumulation of protein aggregates mainly composed by alpha-synuclein in different brain regions, called Lewy bodies (LB). Previous studies have identifed several molecular mechanisms as autophagy and infammation playing a role in PD pathogenesis. Increased insights into mechanisms involved in early disease stages and driving the progression of the LB pathology are required for the development of disease-modifying strategies. Here, we aimed to elucidate disease stage-specifc transcriptomic changes in brain tissue of well-characterized PD and control donors. We collected frontal cortex samples from 84 donors and sequenced both the coding and non-coding RNAs. We categorized our samples into groups based on their degree of LB pathology aiming to recapitulate a central aspect of disease progression. Using an analytical pipeline that corrected for sex, age at death, RNA quality, cell composition and unknown sources of variation, we found major disease stage-specifc transcriptomic changes. Gene expression changes were most pronounced in donors at the disease stage when microscopic LB changes frst occur in the sampled brain region. Additionally, we identifed disease stage-specifc enrichment of brain specifc pathways and immune mechanisms. On the contrary, we showed that mitochondrial mechanisms are enriched throughout the disease course. Our data-driven approach also suggests a role for several poorly characterized lncRNAs in disease development and progression of PD. Finally, by combining genetic and epigenetic information, we highlighted two genes (MAP4K4 and PHYHIP) as candidate genes for future functional studies. Together our results indicate that transcriptomic dysregulation and associated functional changes are highly disease stagespecifc, which has major implications for the study of neurodegenerative disorders.

• Yousaf, Hammad; Rehmat, Shagufta; Jameel, Muhammad; Ibrahim, Rabab; Hashmi, Sohana Nadeem & Makhdoom, Ehtisham Ul Haq [Show all 13 contributors for this article] (2023). A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability. Clinical Genetics. ISSN 0009-9163. 104(3), p. 324–333. doi: 10.1111/cge.14386. Full text in Research Archive
• Sugier, Pierre-Emmanuel; Lucotte, Elise A.; Domenighetti, Cloé; Law, Matthew H.; Iles, Mark M. & Brown, Kevin [Show all 94 contributors for this article] (2023). Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers. Movement Disorders. ISSN 0885-3185. 38(4), p. 604–615. doi: 10.1002/mds.29337.
• Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis & Lesage, Suzanne [Show all 134 contributors for this article] (2023). Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort. Movement Disorders. ISSN 0885-3185. 38(2), p. 286–303. doi: 10.1002/mds.29288. Full text in Research Archive
• Yousaf, Hammad; Fatima, Ambrin; Ali, Zafar; Baig, Shahid M.; Toft, Mathias & Iqbal, Zafar (2022). A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family. Genes. ISSN 2073-4425. 13(9). doi: 10.3390/genes13091667. Full text in Research Archive
• Grover, Sandeep; Sreelatha, Ashwin Ashok Kumar; Pihlstrøm, Lasse; Domenighetti, Cloé; Schulte, Claudia & Sugier, Pierre-Emmanuel [Show all 83 contributors for this article] (2022). Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium. Neurology. ISSN 0028-3878. 99(7), p. E698–E710. doi: 10.1212/WNL.0000000000200699. Show summary

  Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication cohorts. The previous largest genome-wide association studies (GWAS) identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on the AAO of PD; these have not been independently replicated. This study aims to conduct a meta-analysis of GWAS of PD AAO and validate previously observed findings in worldwide populations. Methods A meta-analysis was performed on PD AAO GWAS of 30 populations of predominantly European ancestry from the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. This was followed by combining our study with the largest publicly available European ancestry dataset compiled by the International Parkinson Disease Genomics Consortium (IPDGC). Results The COURAGE-PD Consortium included a cohort of 8,535 patients with PD (91.9%: Europeans and 9.1%: East Asians). The average AAO in the COURAGE-PD dataset was 58.9 years (SD = 11.6), with an underrepresentation of females (40.2%). The heritability estimate for AAO in COURAGE-PD was 0.083 (SE = 0.057). None of the loci reached genome-wide significance (p < 5 × 10−8). Nevertheless, the COURAGE-PD dataset confirmed the role of the previously published TMEM175 variant as a genetic determinant of the AAO of PD with Bonferroni-corrected nominal levels of significance (p < 0.025): (rs34311866: β(SE)COURAGE = 0.477(0.203), pCOURAGE = 0.0185). The subsequent meta-analysis of COURAGE-PD and IPDGC datasets (Ntotal = 25,950) led to the identification of 2 genome-wide significant association signals on Chr 4, including the previously reported SNCA locus (rs983361: β(SE)COURAGE+IPDGC = 0.720(0.122), pCOURAGE+IPDGC = 3.13 × 10−9) and a novel BST1 locus (rs4698412: β(SE)COURAGE+IPDGC = −0.526(0.096), pCOURAGE+IPDGC = 4.41 × 10−8). Discussion Our study further refines the genetic architecture of Chr 4 underlying the AAO of the PD phenotype through the identification of BST1 as a novel AAO PD locus. These findings open a new direction for the development of treatments to delay the onset of PD.

• Pihlstrøm, Lasse; Shireby, Gemma; Geut, Hanneke; Henriksen, Sandra Pilar; Rozemuller, Annemieke J. M. & Tunold, Jon-Anders [Show all 13 contributors for this article] (2022). Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology. Nature Communications. ISSN 2041-1723. 13, p. 1–10. doi: 10.1038/s41467-022-32619-z. Full text in Research Archive
• Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep & Mohamed, Océane [Show all 79 contributors for this article] (2022). Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Movement Disorders. ISSN 0885-3185. 37(4), p. 857–864. doi: 10.1002/mds.28902. Show summary

  Background Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding. Objective The aim is to examine the association between genetically predicted dairy intake and PD using two-sample Mendelian randomization (MR). Methods We genotyped a well-established instrumental variable for dairy intake located in the lactase gene (rs4988235) within the Courage-PD consortium (23 studies; 9823 patients and 8376 controls of European ancestry). Results Based on a dominant model, there was an association between genetic predisposition toward higher dairy intake and PD (odds ratio [OR] per one serving per day = 1.70, 95% confidence interval = 1.12–2.60, P = 0.013) that was restricted to men (OR = 2.50 [1.37–4.56], P = 0.003; P-difference with women = 0.029). Conclusions Using MR, our findings provide further support for a causal relationship between dairy intake and higher PD risk, not biased by confounding or reverse causation. Further studies are needed to elucidate the underlying mechanisms. © 2022 International Parkinson and Movement Disorder Society

• Domenighetti, Cloé; Douillard, Venceslas; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia & Grover, Sandeep [Show all 80 contributors for this article] (2022). The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited. Movement Disorders. ISSN 0885-3185. 37(9), p. 1929–1937. doi: 10.1002/mds.29133.
• Bugge, Helge Fagerheim; Guterud, Mona; Røislien, Jo; Larsen, Karianne; Ihle-Hansen, Hege & Toft, Mathias [Show all 8 contributors for this article] (2022). National Institutes of Health Stroke Scale scores obtained using a mobile application compared to the conventional paper form: A randomised controlled validation study. BMJ Innovations. ISSN 2055-8074. 9(1), p. 57–63. doi: 10.1136/bmjinnov-2022-000968. Full text in Research Archive
• Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep & Mohamed, Oceáne [Show all 79 contributors for this article] (2022). Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. Journal of Parkinson's Disease. ISSN 1877-7171. 12(1), p. 267–282. doi: 10.3233/JPD-212851. Show summary

  Background:Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson’s disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. Objective:To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. Methods:We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). Results:We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60–0.93, p = 0.009) without significant directional pleiotropy. Associations in participants ≤67 years old and cases with disease duration ≤7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. Conclusion:Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power.

• Blauwendraat, Cornelis; Iwaki, Hirotaka; Makarious, Mary B.; Bandres-Ciga, Sara; Leonard, Hampton L. & Grenn, Francis P. [Show all 40 contributors for this article] (2021). Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease. Annals of Neurology. ISSN 0364-5134. 90(1), p. 35–42. doi: 10.1002/ana.26090.
• Chen, Zhongbo; Zhang, David; Reynolds, Regina H.; Gustavsson, Emil Karl ; García-Ruiz, Sonia & D’Sa, Karishma [Show all 154 contributors for this article] (2021). Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications. ISSN 2041-1723. 12(1), p. 1–13. doi: 10.1038/s41467-021-22262-5.
• Storm, Catherine S.; Kia, Demis A.; Almramhi, Mona M.; Bandres-Ciga, Sara; Finan, Chris & Noyce, Alastair J. [Show all 175 contributors for this article] (2021). Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome. Nature Communications. ISSN 2041-1723. 12(1), p. 1–14. doi: 10.1038/s41467-021-26280-1.
• Pham, Uyen Ha Gia; Skogseid, Inger Marie; Pripp, Are Hugo; Bøen, Erlend & Toft, Mathias (2021). Impulsivity in Parkinson’s disease patients treated with subthalamic nucleus deep brain stimulation—An exploratory study. PLOS ONE. ISSN 1932-6203. 16(3), p. 1–13. doi: 10.1371/journal.pone.0248568. Full text in Research Archive
• Yu, Eric; Ambati, Aditya; Andersen, Maren Stolp; Krohn, Lynne; Estiar, Mehrdad A. & Saini, Prabhjyot [Show all 19 contributors for this article] (2021). Fine mapping of the HLA locus in Parkinson’s disease in Europeans. NPJ Parkinson's Disease. ISSN 2373-8057. 7(84). doi: 10.1038/s41531-021-00231-5. Full text in Research Archive Show summary

  We fine mapped the leukocyte antigen (HLA) region in 13,770 Parkinson’s disease (PD) patients, 20,214 proxy-cases, and 490,861 controls of European origin. Four HLA types were associated with PD after correction for multiple comparisons, HLA-DQA1*03:01, HLA-DQB1*03:02, HLA-DRB1*04:01, and HLA-DRB1*04:04. Haplotype analyses followed by amino acid analysis and conditional analyses suggested that the association is protective and primarily driven by three specific amino acid polymorphisms present in most HLA-DRB1*04 subtypes—11V, 13H, and 33H (OR = 0.87, 95% CI: 0.83–0.90, p < 8.23 × 10−9 for all three variants). No other effects were present after adjustment for these amino acids. Our results suggest that specific HLA-DRB1 variants are associated with reduced risk of PD, providing additional evidence for the role of the immune system in PD. Although effect size is small and has no diagnostic significance, understanding the mechanism underlying this association may lead to the identification of new targets for therapeutics development.

• Bjerknes, Silje Kristin; Toft, Mathias; Brandt, Reidun; Rygvold, Trine Waage; Konglund, Ane & Dietrichs, Espen [Show all 8 contributors for this article] (2021). Subthalamic Nucleus Stimulation in Parkinson's Disease: 5-Year Extension Study of a Randomized Trial. Movement Disorders Clinical Practice. ISSN 2330-1619. 9(1), p. 48–59. doi: 10.1002/mdc3.13348. Full text in Research Archive
• Tunold, Jon-Anders; Geut, Hanneke; Rozemuller, J.M. Annemieke; Henriksen, Sandra Pilar; Toft, Mathias & van de Berg, Wilma D.J. [Show all 7 contributors for this article] (2021). APOE and MAPT are associated with dementia in neuropathologically confirmed Parkinson's disease. Frontiers in Neurology. ISSN 1664-2295. 12:631145, p. 1–8. doi: 10.3389/fneur.2021.631145. Full text in Research Archive
• Berge-Seidl, Victoria; Pihlstrøm, Lasse & Toft, Mathias (2021). Integrative analysis identifies bHLH transcription factors as contributors to Parkinson’s disease risk mechanisms. Scientific Reports. ISSN 2045-2322. 11:3502, p. 1–10. doi: 10.1038/s41598-021-83087-2. Full text in Research Archive
• Langmyhr, Margrete; Henriksen, Sandra Pilar; Cappelletti, Chiara; van de Berg, Wilma D. J.; Pihlstrøm, Lasse & Toft, Mathias (2021). Allele-specific expression of Parkinson’s disease susceptibility genes in human brain. Scientific Reports. ISSN 2045-2322. 11(1). doi: 10.1038/s41598-020-79990-9. Full text in Research Archive
• Bjerknes, Silje Kristin; Skogseid, Inger Marie; Hauge, Tuva Jin; Dietrichs, Espen & Toft, Mathias (2020). Subthalamic deep brain stimulation improves sleep and excessive sweating in Parkinson’s disease. NPJ Parkinson's Disease. ISSN 2373-8057. 6:29, p. 1–7. doi: 10.1038/s41531-020-00131-0. Full text in Research Archive
• Krohn, Lynne; Wu, Richard Y. J.; Heilbron, Karl; Ruskey, Jennifer A.; Laurent, Sandra B. & Blauwendraat, Cornelis [Show all 50 contributors for this article] (2020). Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies. Annals of Neurology. ISSN 0364-5134. 87(4), p. 584–598. doi: 10.1002/ana.25687.
• Iwaki, Hirotaka; Blauwendraat, Cornelis; Leonard, Hampton; Makarious, Mary B.; Kim, Jonggeol J. & Liu, Ganqiang [Show all 48 contributors for this article] (2020). Differences in the presentation and progression of Parkinson's disease by sex. Movement Disorders. ISSN 0885-3185. p. 1–14. doi: 10.1002/mds.28312.
• Blauwendraat, Cornelis; Reed, Xylena; Krohn, Lynne; Heilbron, Karl; Bandres-Ciga, Sara & Tan, Manuela [Show all 62 contributors for this article] (2020). Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain. ISSN 0006-8950. 143(1), p. 234–248. doi: 10.1093/brain/awz350.
• Smeland, Olav Bjerkehagen; Shadrin, Alexey A.; Bahrami, Shahram; Broce, Iris J.; Tesli, Martin Steen & Frei, Oleksandr [Show all 22 contributors for this article] (2020). Genome-wide Association Analysis of Parkinson’s Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci. Biological Psychiatry. ISSN 0006-3223. 89(3), p. 227–235. doi: 10.1016/j.biopsych.2020.01.026. Full text in Research Archive Show summary

  BACKGROUND:Parkinson’s disease (PD) and schizophrenia (SCZ) are heritable brain disorders that involvedysregulation of the dopaminergic system. Epidemiological studies have reported potential comorbidity between thedisorders, and movement disturbances are common in patients with SCZ before treatment with antipsychotic drugs.Despite this, little is known about shared genetic etiology between the disorders.METHODS:We analyzed recent large genome-wide association studies on patients with SCZ (N= 77,096) and PD(N= 417,508) using a conditional/conjunctional false discovery rate (FDR) approach to evaluate overlap incommon genetic variants and improve statistical power for genetic discovery. Using a variety of biologicalresources, we functionally characterized the identified genomic loci.RESULTS:We observed genetic enrichment in PD conditional onassociations with SCZ and vice versa, indicatingpolygenic overlap. We then leveraged this cross-trait enrichment using conditional FDR analysis and identified 9 novel PDrisk loci and 1 novel SCZ locus at conditional FDR,.01. Furthermore, we identified 9 genomic loci jointly associated withPD and SCZ at conjunctional FDR,.05. There was an even distribution of antagonistic and agonistic effect directionsamong the shared loci, in line with the insignificant genetic correlation between the disorders. Of 67 genes mapped to theshared loci, 65 are expressed in the human brain and show cell type–specific expression profiles.CONCLUSIONS:Altogether, the study increases understanding of the genetic architectures underlying SCZ and PD,indicating that common molecular genetic mechanisms may contribute to overlapping pathophysiological and clinicalfeatures between the disorders.

• Fernandez-Santiago, Ruben; Martín-Flores, Núria; Antonelli, Francesca; Cerquera, Catalina; Moreno, Verónica & Bandres-Ciga, Sara [Show all 15 contributors for this article] (2019). SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson’s Disease. Movement Disorders. ISSN 0885-3185. 34(9), p. 1333–1344. doi: 10.1002/mds.27770.
• Puschmann, Andreas; Jimenez-Ferrer, Itzia; Lundblad-Andersson, Elin; Mårtensson, Emma; Hansson, Oskar & Odin, Per [Show all 26 contributors for this article] (2019). Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study. Parkinsonism & Related Disorders. ISSN 1353-8020. 66, p. 158–165. doi: 10.1016/j.parkreldis.2019.07.032.
• Nalls, Mike A.; Blauwendraat, Cornelis; Vallerga, Costanza L.; Heilbron, Karl; Bandres-Ciga, Sara & Chang, Diana [Show all 51 contributors for this article] (2019). Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurology. ISSN 1474-4422. 18(12), p. 1091–1102. doi: 10.1016/S1474-4422(19)30320-5.
• Iqbal, Zafar; Koht, Jeanette; Pihlstrøm, Lasse; Henriksen, Sandra Pilar; Cappelletti, Chiara & Russell, Michael Bjørn [Show all 9 contributors for this article] (2019). Missense mutations in DYT-TOR1A dystonia. Neurology: Genetics. ISSN 2376-7839. 5:e343(4), p. 1–6. doi: 10.1212/NXG.0000000000000343. Full text in Research Archive
• Iwaki, Hirotaka; Blauwendraat, Cornelis; Leonard, Hampton L.; Liu, Ganqiang; Maple-Grødem, Jodi & Corvol, Jean-Christophe [Show all 41 contributors for this article] (2019). Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts. Neurology: Genetics. ISSN 2376-7839. 5(4), p. 1–14. doi: 10.1212/NXG.0000000000000348. Full text in Research Archive
• Iwaki, Hirotaka; Blauwendraat, Cornelis; Leonard, Hampton L.; Kim, Jonggeol J.; Liu, Ganqiang & Maple-Grødem, Jodi [Show all 45 contributors for this article] (2019). Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts. Movement Disorders. ISSN 0885-3185. 34(12), p. 1839–1850. doi: 10.1002/mds.27845.
• Blauwendraat, Cornelis; Heilbron, Karl; Vallerga, Costanza L; Bandres-Ciga, Sara; von Coelln, Rainer & Pihlstrøm, Lasse [Show all 42 contributors for this article] (2019). Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms. Movement Disorders. ISSN 0885-3185. 34(6), p. 866–875. doi: 10.1002/mds.27659.
• Flengsrud, Karoline; Toft, Mathias & Dietrichs, Espen (2019). Essensiell tremor. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 139(8), p. 1–5. doi: 10.4045/tidsskr.18.0904.
• Rongve, Arvid; Witoelar, Aree; Ruiz, Agustín; Athanasiu, Lavinia; Abdelnour, Carla & Clarimon, Jordi [Show all 40 contributors for this article] (2019). GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study. Scientific Reports. ISSN 2045-2322. 9. doi: 10.1038/s41598-019-43458-2. Full text in Research Archive
• Kristiansen, Madeleine; Maple-Grødem, Jodi; Alves, Guido Werner; Arepalli, Sampath; Hernandez, Dena G & Iwaki, Hirotaka [Show all 11 contributors for this article] (2018). A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease. Movement Disorders. ISSN 0885-3185. 34(2), p. 298–299. doi: 10.1002/mds.27555.
• Blauwendraat, Cornelis; Reed, Xylena; Kia, Demis A.; Gan-Or, Ziv; Lesage, Suzanne & Pihlstrøm, Lasse [Show all 29 contributors for this article] (2018). Frequency of loss of function variants in LRRK2 in Parkinson disease. JAMA Neurology. ISSN 2168-6149. 75(11), p. 1416–1422. doi: 10.1001/jamaneurol.2018.1885.
• Berge-Seidl, Victoria; Pihlstrøm, Lasse; Wszolek, Zbigniew K.; Ross, Owen A. & Toft, Mathias (2018). No evidence for DNM3 as genetic modifier of age at onset in idiopathic Parkinson's disease. Neurobiology of Aging. ISSN 0197-4580. 74, p. 1–5. doi: 10.1016/j.neurobiolaging.2018.09.022.
• Pihlstrøm, Lasse; Blauwendraat, Cornelis; Cappelletti, Chiara; Berge-Seidl, Victoria; Langmyhr, Margrete & Henriksen, Sandra Pilar [Show all 12 contributors for this article] (2018). A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease. Annals of Neurology. ISSN 0364-5134. 84(1), p. 117–129. doi: 10.1002/ana.25274.
• Bjerknes, Silje Kristin; Toft, Mathias; Konglund, Ane; Pham, Uyen Ha Gia; Waage, Trine Rygvold & Pedersen, Lena [Show all 11 contributors for this article] (2018). Multiple microelectrode recordings in STN-DBS surgery for Parkinson's disease: a randomized study. Movement Disorders Clinical Practice. ISSN 2330-1619. 5(3), p. 296–305. doi: 10.1002/mdc3.12621. Full text in Research Archive
• Blauwendraat, Cornelis; Kia, Demis A.; Pihlstrøm, Lasse; Gan-Or, Ziv; Lesage, Suzanne & Gibbs, J. Raphael [Show all 22 contributors for this article] (2018). Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging. ISSN 0197-4580. 64, p. 159.e5–159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012.
• Bjørnaraa, Kari Anne; Pihlstrøm, Lasse; Dietrichs, Espen & Toft, Mathias (2018). Risk variants of the α-synuclein locus and REM sleep behavior disorder in Parkinson's disease: A genetic association study. BMC Neurology. ISSN 1471-2377. 18(20), p. 1–5. doi: 10.1186/s12883-018-1023-6. Full text in Research Archive
• Berge, Victoria; Pihlstrøm, Lasse; Maple-Grødem, Jodi; Forsgren, Lars; Linder, Jan & Larsen, Jan Petter [Show all 8 contributors for this article] (2017). The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal. Neuroscience Letters. ISSN 0304-3940. 658, p. 48–52. doi: 10.1016/j.neulet.2017.08.040. Full text in Research Archive
• Iqbal, Zafar; Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Pihlstrøm, Lasse & Rengmark, Aina Sylvia Haugen [Show all 9 contributors for this article] (2017). Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLOS ONE. ISSN 1932-6203. 12:e0174667(3), p. 1–19. doi: 10.1371/journal.pone.0174667. Full text in Research Archive
• Pihlstrøm, Lasse; Morset, Kristina Rebekka; Grimstad, Espen; Vitelli, Valeria & Toft, Mathias (2016). A cumulative genetic risk score predicts progression in Parkinson's disease. Movement Disorders. ISSN 0885-3185. 31(4), p. 487–490. doi: 10.1002/mds.26505.
• Lill, Christina M.; Rengmark, Aina Sylvia Haugen; Pihlstrøm, Lasse; Fogh, Isabella; Shatunov, Aleksey & Sleiman, Patrick M. [Show all 51 contributors for this article] (2015). The role of TREM2 R47H as a risk factor for Alzheimer’s disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson’s disease. Alzheimer's & Dementia. ISSN 1552-5260. 11(12), p. 1407–1416. doi: 10.1016/j.jalz.2014.12.009.
• Wang, Lisa; Aasly, Jan; Annesi, Grazia; Bardien, Soraya; Bozi, Maria & Brice, Alexis [Show all 55 contributors for this article] (2015). Large-scale assessment of polyglutamine repeat expansions in Parkinson disease. Neurology. ISSN 0028-3878. 85(15), p. 1283–1292. doi: 10.1212/WNL.0000000000002016.
• Pham, Uyen Ha Gia; Andersson, Stein; Toft, Mathias; Pripp, Are Hugo; Konglund, Ane & Dietrichs, Espen [Show all 10 contributors for this article] (2015). Self-Reported Executive Functioning in Everyday Life in Parkinson's Disease after Three Months of Subthalamic Deep Brain Stimulation. Parkinson's Disease. ISSN 2090-8083. 2015:461453. doi: 10.1155/2015/461453. Full text in Research Archive
• Bjørnarå, Kari Anne; Dietrichs, Espen & Toft, Mathias (2015). Longitudinal assessment of probable rapid eye movement sleep behaviour disorder in Parkinson's disease. European Journal of Neurology. ISSN 1351-5101. 22(8), p. 1242–1244. doi: 10.1111/ene.12723.
• Pihlstrøm, Lasse; Rengmark, Aina Sylvia Haugen; Bjørnarå, Kari Anne; Dizdar, Nil; Fardell, Camilla & Forsgren, Lars [Show all 13 contributors for this article] (2015). Fine mapping and resequencing of the PARK16 locus in Parkinson's disease. Journal of Human Genetics. ISSN 1434-5161. 60(7), p. 357–362. doi: 10.1038/jhg.2015.34.
• Pham, Uyen Ha Gia; Solbakk, Anne-Kristin; Skogseid, Inger Marie; Toft, Mathias; Pripp, Are Hugo & Konglund, Ane [Show all 11 contributors for this article] (2015). Personality changes after deep brain stimulation in Parkinson's Disease. Parkinson's Disease. ISSN 2090-8083. 2015:490507. doi: 10.1155/2015/490507.
• Lilleeng, Bård Flattun; Brønnick, Kolbjørn S; Toft, Mathias; Dietrichs, Espen & Larsen, Jan Petter (2014). Progression and survival in Parkinson's disease with subthalamic nucleus stimulation. Acta Neurologica Scandinavica. ISSN 0001-6314. 130(5), p. 292–298. doi: 10.1111/ane.12224.
• Toft, Mathias (2014). Advances in genetic diagnosis of neurological disorders. Acta Neurologica Scandinavica. ISSN 0001-6314. 129(198), p. 20–25. doi: 10.1111/ane.12232.
• Børretzen, Mari Naumann; Bjerknes, Silje Kristin; Sæhle, Terje; Skjelland, Mona; Skogseid, Inger Marie & Toft, Mathias [Show all 7 contributors for this article] (2014). Long-term follow-up of thalamic deep brain stimulation for essential tremor - patient satisfaction and mortality. BMC Neurology. ISSN 1471-2377. 14(120). doi: 10.1186/1471-2377-14-120.
• Bjerknes, Silje Kristin; Skogseid, Inger Marie; Sæhle, Terje; Dietrichs, Espen & Toft, Mathias (2014). Surgical site infections after deep brain stimulation surgery: Frequency, characteristics and management in a 10-year period. PLOS ONE. ISSN 1932-6203. 9(8). doi: 10.1371/journal.pone.0105288.
• Koht, Jeanette ; Rengmark, Aina Sylvia Haugen; Opladen, Thomas; Bjørnarå, Kari Anne; Selberg, Tore & Tallaksen, Chantal [Show all 8 contributors for this article] (2014). Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 129(198), p. 7–12. doi: 10.1111/ane.12230.
• Bjørnarå, Kari Anne; Dietrichs, Espen & Toft, Mathias (2014). Clinical features associated with sleep disturbances in Parkinson's disease. Clinical neurology and neurosurgery (Dutch-Flemish ed. Print). ISSN 0303-8467. 124, p. 37–43. doi: 10.1016/j.clineuro.2014.06.027.
• Pihlstrøm, Lasse; Rengmark, Aina Sylvia Haugen; Bjørnarå, Kari Anne & Toft, Mathias (2014). Effective variant detection by targeted deep sequencing of DNA pools: An example from parkinson's disease. Annals of Human Genetics. ISSN 0003-4800. 78(3), p. 243–252. doi: 10.1111/ahg.12060.
• Pihlstrøm, Lasse; Axelsson, Gunnar; Bjørnarå, Kari Anne; Dizdar, Nil; Fardell, Camilla & Forsgren, Lars [Show all 14 contributors for this article] (2013). Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease. Neurobiology of Aging. ISSN 0197-4580. 34(6). doi: 10.1016/j.neurobiolaging.2012.10.019.
• Bjørnarå, Kari Anne; Dietrichs, Espen & Toft, Mathias (2013). REM sleep behavior disorder in Parkinson's disease - Is there a gender difference? Parkinsonism & Related Disorders. ISSN 1353-8020. 19(1), p. 120–122. doi: 10.1016/j.parkreldis.2012.05.027.
• Karlsson, Magdalena Kauczynska; Sharma, Praveen; Aasly, Jan; Toft, Mathias; Skogar, Ørjan & Sæbø, Solve [Show all 7 contributors for this article] (2013). Found in transcription: Accurate Parkinson’s disease classification in peripheral blood. Journal of Parkinson's Disease. ISSN 1877-7171. 3(1), p. 19–29. doi: 10.3233/JPD-120159.
• Pihlstrøm, Lasse & Toft, Mathias (2011). Parkinson’s Disease: What Remains of the ‘‘Missing Heritability’’? Movement Disorders. ISSN 0885-3185. 26(11), p. 1971–1973. doi: 10.1002/mds.23898.
• Toft, Mathias (2011). The Wilson films - MS Tremor. Movement Disorders. ISSN 0885-3185. 26(14), p. 2471–2472. doi: 10.1002/mds.24010. Show summary

  Action tremor was for a long time considered to be a defining symptom of multiple sclerosis. The Wilson films include a short segment showing a female patient suffering from relatively severe action tremor. Tremor is the most common movement disorder in multiple sclerosis, and can be very disabling in some patients. Insights into the frequency and treatment of tremor in multiple sclerosis have changed since the Wilson films were taken, and are reviewed herein. (c) 2011 Movement Disorder Society

• Pihlstrøm, Lasse & Toft, Mathias (2011). Genetic variability in SNCA and Parkinson's disease. Neurogenetics. ISSN 1364-6745. 12(4), p. 283–293. doi: 10.1007/s10048-011-0292-7. Show summary

  Over the last decades, increasing knowledge about the genetic architecture of Parkinson's disease has provided novel insights into the pathogenesis of the disorder, generating hypotheses for further research. Characterizing the role of SNCA, encoding the alpha-synuclein protein, has been a particularly important aspect of this development. The identification of SNCA as the first gene implicated in monogenic parkinsonism led to the recognition of alpha-synuclein as a key protein in the pathogenesis and a major component of pathological hallmark lesions. An association between common variants in SNCA and risk of sporadic Parkinson's disease has been established through numerous studies. We review our current understanding of SNCA variability contributing to Parkinson's disease, highlighting the characterization of functionally relevant susceptibility alleles as a major future challenge. We argue that new strategies will be needed to pinpoint the variants that are ultimately responsible for the signals detected in association studies, where targeted resequencing may represent an attractive initial approach.

• Toft, Mathias; Lilleeng, Bård; Ramm-Pettersen, Jon-Terje; Skogseid, Inger Marie; Gundersen, Vidar & Gerdts, Reno [Show all 10 contributors for this article] (2011). Long-Term Efficacy and Mortality in Parkinson's Disease Patients Treated with Subthalamic Stimulation. Movement Disorders. ISSN 0885-3185. 26(10), p. 1931–1934. doi: 10.1002/mds.23817.
• Toft, Mathias & Dietrichs, Espen (2011). Aggravated stuttering following subthalamic deep brain stimulation in Parkinson's disease - two cases. BMC Neurology. ISSN 1471-2377. 11. doi: 10.1186/1471-2377-11-44.
• Aasly, Jan; Vilarino-Guell, C; Dachsel, JC; Webber, PJ; West, AB & Haugarvoll, Kristoffer [Show all 19 contributors for this article] (2010). Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. Movement Disorders. ISSN 0885-3185. 25(13), p. 2156–2163. doi: 10.1002/mds.23265.
• Haugarvoll, Kristoffer; Toft, Mathias; Skipper, L; Heckman, MG; Crook, JE & Soto, A [Show all 17 contributors for this article] (2009). Fine-mapping and candidate gene investigation within the PARK 10 locus. European Journal of Human Genetics. ISSN 1018-4813. 17(3), p. 336–343. doi: 10.1038/ejhg.2008.187.
• Myhre, Ronny; Toft, Mathias; Kachergus, J; Hulihan, MM; Aasly, Jan & Klungland, Helge [Show all 7 contributors for this article] (2008). Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population. Acta Neurologica Scandinavica. ISSN 0001-6314. 118(5), p. 320–327.
• White, Linda R.; Toft, Mathias; Kvam, Sylvia Nome; Farrer, MJ & Aasly, Jan (2007). MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease. Journal of Neuroscience Research. ISSN 0360-4012. 85(6), p. 1288–1294. doi: 10.1002/jnr.21240.
• Haugarvoll, Kristoffer; Toft, Mathias; Ross, OA; White, Linda; Aasly, Jan & Farrer, MJ (2007). Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway. Neuroscience Letters. ISSN 0304-3940. 416(3), p. 299–301. doi: 10.1016/j.neulet.2007.02.020.
• Haugarvoll, Kristoffer; Toft, Mathias; Ross, OA; Stone, JT; Heckman, MG & White, Linda [Show all 12 contributors for this article] (2007). ELAVL4, PARK10, and the Celts. Movement Disorders. ISSN 0885-3185. 22(4), p. 585–587. doi: 10.1002/mds.21336.
• Toft, Mathias; Mata, IF; Ross, OA; Kachergus, J; Hulihan, MM & Haugarvoll, Kristoffer [Show all 15 contributors for this article] (2007). Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease. Movement Disorders. ISSN 0885-3185. 22(3), p. 389–392. doi: 10.1002/mds.21217.
• Toft, Mathias; Myhre, Ronny; Pielsticker, L; White, Linda; Aasly, Jan & Farrer, MJ (2007). PINK1 mutation heterozygosity and the risk of Parkinson's disease. Journal of Neurology, Neurosurgery and Psychiatry. ISSN 0022-3050. 78(1), p. 82–84. doi: 10.1136/jnnp.2006.097840.
• Toft, Mathias; Haugarvoll, Kristoffer; Ross, OA; Farrer, MJ & Aasly, Jan (2007). LRRK2 and Parkinson's disease in Norway. Acta Neurologica Scandinavica. ISSN 0001-6314. 115, p. 72–75.

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• Haraldsen, Ira Hebold; Hatlestad-Hall, Christoffer; Marra, Camillo; Renvall, Hanna; Maestú, Fernando & Acosta-Hernández, Jorge [Show all 69 contributors for this article] (2023). 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. Frontiers in Neurorobotics. 17. doi: 10.3389/fnbot.2023.1289406. Full text in Research Archive Show summary

  More than 10 million Europeans show signs of mild cognitive impairment (MCI), a transitional stage between normal brain aging and dementia stage memory disorder. The path MCI takes can be divergent; while some maintain stability or even revert to cognitive norms, alarmingly, up to half of the cases progress to dementia within 5 years. Current diagnostic practice lacks the necessary screening tools to identify those at risk of progression. The European patient experience often involves a long journey from the initial signs of MCI to the eventual diagnosis of dementia. The trajectory is far from ideal. Here, we introduce the AI-Mind project, a pioneering initiative with an innovative approach to early risk assessment through the implementation of advanced artificial intelligence (AI) on multimodal data. The cutting-edge AI-based tools developed in the project aim not only to accelerate the diagnostic process but also to deliver highly accurate predictions regarding an individual’s risk of developing dementia when prevention and intervention may still be possible. AI-Mind is a European Research and Innovation Action (RIA H2020-SC1-BHC-06-2020, No. 964220) financed between 2021 and 2026. First, the AI-Mind Connector identifies dysfunctional brain networks based on high-density magneto- and electroencephalography (M/EEG) recordings. Second, the AI-Mind Predictor predicts dementia risk using data from the Connector, enriched with computerized cognitive tests, genetic and protein biomarkers, as well as sociodemographic and clinical variables. AIMind is integrated within a network of major European initiatives, including The Virtual Brain, The Virtual Epileptic Patient, and EBRAINS AISBL service for sensitive data, HealthDataCloud, where big patient data are generated for advancing digital and virtual twin technology development. AI-Mind’s innovation lies not only in its early prediction of dementia risk, but it also enables a virtual laboratory scenario for hypothesis-driven personalized intervention research. This article introduces the background of the AI-Mind project and its clinical study protocol, setting the stage for future scientific contribution.

• Bugge, Helge Fagerheim; Guterud, Mona; Bache, Kristi Cecilie Grønvold; Braarud, Anne-Cathrine ; Eriksen, Erik & Fremstad, Kjell Otto [Show all 15 contributors for this article] (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. ISSN 1745-6215. 23(1). doi: 10.1186/s13063-022-06006-4. Full text in Research Archive
• Rongve, Arvid; Witoelar, Aree Widya; Ruiz, Agustín; Athanasiu, Lavinia; Abdelnour, Carla & Clarimon, Jordi [Show all 40 contributors for this article] (2019). Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study (Scientific Reports, (2019), 9, 1, (7013), 10.1038/s41598-019-43458-2). Scientific Reports. ISSN 2045-2322. 9(1). doi: 10.1038/s41598-019-51827-0.
• Iqbal, Zafar & Toft, Mathias (2019). TMEM230 variants in Parkinson’s disease. Nature Genetics. ISSN 1061-4036. 51(3). doi: 10.1038/s41588-019-0353-7.
• Toft, Mathias & Ross, Owen A. (2016). Exome variant mining in familial Parkinson disease will replication find the gold? JAMA Neurology. ISSN 2168-6149. 73(1), p. 21–22. doi: 10.1001/jamaneurol.2015.3536.
• Iqbal, Zafar; Pihlstrøm, Lasse; Rengmark, Aina Sylvia Haugen; Henriksen, Sandra Pilar; Linder, Jan & Forsgren, Lars [Show all 7 contributors for this article] (2016). Rare variants in dementia genes and Parkinson's disease. European Journal of Human Genetics. ISSN 1018-4813. 24(12), p. 1661–1662. doi: 10.1038/ejhg.2016.79.
• Rengmark, Aina Sylvia Haugen; Pihlstrøm, Lasse; Linder, Jan; Forsgren, Lars & Toft, Mathias (2016). Low frequency of GCH1 and TH mutations in Parkinson's disease. Parkinsonism & Related Disorders. ISSN 1353-8020. 29, p. 109–111. doi: 10.1016/j.parkreldis.2016.05.010.
• Pihlstrøm, Lasse & Toft, Mathias (2015). Cumulative genetic risk and age at onset in Parkinson's disease. Movement Disorders. ISSN 0885-3185. 30(12), p. 1712–1713. doi: 10.1002/mds.26366.
• Iqbal, Zafar & Toft, Mathias (2015). CHCHD2 and Parkinson's disease. Lancet Neurology. ISSN 1474-4422. 14(7), p. 680–681. doi: 10.1016/S1474-4422(15)00096-4.
• Pihlstrøm, Lasse; Berge, Victoria; Rengmark, Aina Sylvia Haugen & Toft, Mathias (2015). Parkinson's disease correlates with promoter methylation in the α-synuclein gene. Movement Disorders. ISSN 0885-3185. 30(4), p. 577–580. doi: 10.1002/mds.26073.
• Toft, Mathias & Dietrichs, Espen (2014). Medication costs following subthalamic nucleus deep brain stimulation for Parkinson's disease. Movement Disorders. ISSN 0885-3185. 29(2), p. 275–276. doi: 10.1002/mds.25504.
• Pihlstrøm, Lasse; Bjornara, KA; Dizdar, N; Fardell, C; Forsgren, L & Holmberg, B [Show all 12 contributors for this article] (2012). A Scandinavian multi-centre study replicates 11 susceptibility loci from genome-wide association studies in Parkinson's disease. European Journal of Neurology. ISSN 1351-5101. 19, p. 40–40.
• Toft, Mathias & Dietrichs, Espen (2011). Levodopa-Responsive Parkinsonism in Probable Extrapontine Myelinolysis of the Mesencephalon. Movement Disorders. ISSN 0885-3185. 26(12), p. 2180–2181. doi: 10.1002/mds.23876.
• Toft, Mathias (2011). International Consortium Identifies New Genetic Risk Factors for Parkinson's Disease. Movement Disorders. ISSN 0885-3185. 26(4), p. 606–606. doi: 10.1002/mds.23725.
• Toft, Mathias (2011). Dopaminergic Neurons Generated Directly From Human Fibroblasts. Movement Disorders. ISSN 0885-3185. 26(11), p. 1975–1975. doi: 10.1002/mds.23938.
• Egebakken, E.C.; Vilming, S; Toft, Mathias & LUNDQVIST, CHRISTOFER (2010). Function and quality-of-life of fluctuating PD patients on DBS, intraduodenal levodopa and per-oral medication. European Journal of Neurology. ISSN 1351-5101. 17, p. 394–394.
• White, Linda; Toft, Mathias; Farrer, MJ; Kvam, Sylvia Nome & Aasly, Jan (2007). Leukocyte Mapk activity associated with the LRRK2 G2019S mutation and Parkinson's disease. Neurodegenerative Diseases. ISSN 1660-2854. 4.

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