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Page 1
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: toft m. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
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. Afridi TUK, et al. Among authors: toft m. Mol Genet Genomics. 2024 May 21;299(1):55. doi: 10.1007/s00438-024-02149-y. Mol Genet Genomics. 2024. PMID: 38771357
Prehospital screening of acute stroke with the National Institutes of Health Stroke Scale (ParaNASPP): a stepped-wedge, cluster-randomised controlled trial.
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. Guterud M, et al. Among authors: toft m. Lancet Neurol. 2023 Sep;22(9):800-811. doi: 10.1016/S1474-4422(23)00237-5. Lancet Neurol. 2023. PMID: 37596006 Clinical Trial.
The genetic landscape of basal ganglia and implications for common brain disorders.
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. Bahrami S, et al. Among authors: toft m. Nat Commun. 2024 Oct 1;15(1):8476. doi: 10.1038/s41467-024-52583-0. Nat Commun. 2024. PMID: 39353893 Free PMC article.
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
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. Kakar N, et al. Among authors: toft m. Hum Genet. 2024 Dec 21. doi: 10.1007/s00439-024-02718-6. Online ahead of print. Hum Genet. 2024. PMID: 39708122
Genome-wide association study of copy number variations in Parkinson's disease.
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, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Burbulla LF, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BP, Bloem BR, Singleton AB, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Clarke CE, Morrison KE, Krainc D, Farrer MJ, Lal D, Elbaz A, Gasser T, Krüger R, Sharma M, May P. Landoulsi Z, et al. Among authors: toft m. medRxiv [Preprint]. 2024 Aug 22:2024.08.21.24311915. doi: 10.1101/2024.08.21.24311915. medRxiv. 2024. PMID: 39228715 Free PMC article. Preprint.
Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study.
Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Portugal B, Lee PC, May P, Bobbili D, Radivojkov Blagojevic M, Lichtner P, Singleton AB, Hernandez D, Edsall C, Mellick GD, Zimprich AA, Pirker W, Rogaeva EA, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli AL, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, Van De Warrenburg BPC, Bloem BR, Toft M, Pihlstrøm L, Correia Guedes L, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Hellberg C, Clarke CE, Morrison KE, Tan MM, Krainc D, Burbulla LF, Farrer M, Kruger R, Gasser T, Sharma M, Elbaz A; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. Domenighetti C, et al. Among authors: toft m. Neurology. 2024 Aug 13;103(3):e209620. doi: 10.1212/WNL.0000000000209620. Epub 2024 Jul 10. Neurology. 2024. PMID: 38986057
177 results