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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Among authors: kvarnung m. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjöld M, Syk Lundberg E, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Kvarnung M, et al. Front Genet. 2019 Sep 24;10:896. doi: 10.3389/fgene.2019.00896. eCollection 2019. Front Genet. 2019. PMID: 31608123 Free PMC article.
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.
van der Put J, Daugeliene D, Bergendal Å, Kvarnung M, Svenningsson P, Paucar M. van der Put J, et al. Among authors: kvarnung m. Neurol Genet. 2022 May 31;8(3):e668. doi: 10.1212/NXG.0000000000000668. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655586 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: kvarnung m. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, Anderlid BM, Hammarsjö A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Ek M, et al. Among authors: kvarnung m. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
45 results