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Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration.
Melamed Z, López-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, Freyermuth F, McMahon MA, Beccari MS, Artates JW, Ohkubo T, Rodriguez M, Lin N, Wu D, Bennett CF, Rigo F, Da Cruz S, Ravits J, Lagier-Tourenne C, Cleveland DW. Melamed Z, et al. Among authors: freyermuth f. Nat Neurosci. 2019 Feb;22(2):180-190. doi: 10.1038/s41593-018-0293-z. Epub 2019 Jan 14. Nat Neurosci. 2019. PMID: 30643298 Free PMC article.
Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains.
Guo L, Kim HJ, Wang H, Monaghan J, Freyermuth F, Sung JC, O'Donovan K, Fare CM, Diaz Z, Singh N, Zhang ZC, Coughlin M, Sweeny EA, DeSantis ME, Jackrel ME, Rodell CB, Burdick JA, King OD, Gitler AD, Lagier-Tourenne C, Pandey UB, Chook YM, Taylor JP, Shorter J. Guo L, et al. Among authors: freyermuth f. Cell. 2018 Apr 19;173(3):677-692.e20. doi: 10.1016/j.cell.2018.03.002. Cell. 2018. PMID: 29677512 Free PMC article.
Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease.
Jambeau M, Meyer KD, Hruska-Plochan M, Tabet R, Lee CZ, Ray-Soni A, Aguilar C, Savage K, Mishra N, Cavegn N, Borter P, Lin CC, Jansen-West KR, Jiang J, Freyermuth F, Li N, De Rossi P, Pérez-Berlanga M, Jiang X, Daughrity LM, Pereira J, Narayanan S, Gu Y, Dhokai S, Dalkilic-Liddle I, Maniecka Z, Weber J, Workman M, McAlonis-Downes M, Berezovski E, Zhang YJ, Berry J, Wainger BJ, Kankel MW, Rushe M, Hock C, Nitsch RM, Cleveland DW, Petrucelli L, Gendron TF, Montrasio F, Grimm J, Polymenidou M, Lagier-Tourenne C. Jambeau M, et al. Among authors: freyermuth f. Proc Natl Acad Sci U S A. 2022 Dec 6;119(49):e2123487119. doi: 10.1073/pnas.2123487119. Epub 2022 Dec 1. Proc Natl Acad Sci U S A. 2022. PMID: 36454749 Free PMC article.
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB. Konersman CG, et al. Among authors: freyermuth f. Mol Genet Genomic Med. 2017 Nov;5(6):678-691. doi: 10.1002/mgg3.325. Epub 2017 Aug 21. Mol Genet Genomic Med. 2017. PMID: 29178646 Free PMC article.
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N. Sellier C, et al. Among authors: freyermuth f. Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x. Nat Commun. 2018. PMID: 29789616 Free PMC article.
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, de Munain AL, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N. Freyermuth F, et al. Nat Commun. 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067. Nat Commun. 2016. PMID: 27063795 Free PMC article.
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.
Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N. Rau F, et al. Among authors: freyermuth f. Nat Struct Mol Biol. 2011 Jun 19;18(7):840-5. doi: 10.1038/nsmb.2067. Nat Struct Mol Biol. 2011. PMID: 21685920
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.
Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N. Sellier C, et al. Among authors: freyermuth f. Cell Rep. 2013 Mar 28;3(3):869-80. doi: 10.1016/j.celrep.2013.02.004. Epub 2013 Mar 7. Cell Rep. 2013. PMID: 23478018 Free PMC article.
Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
Carpentier C, Ghanem D, Fernandez-Gomez FJ, Jumeau F, Philippe JV, Freyermuth F, Labudeck A, Eddarkaoui S, Dhaenens CM, Holt I, Behm-Ansmant I, Marmier-Gourrier N, Branlant C, Charlet-Berguerand N, Marie J, Schraen-Maschke S, Buée L, Sergeant N, Caillet-Boudin ML. Carpentier C, et al. Among authors: freyermuth f. Biochim Biophys Acta. 2014 Apr;1842(4):654-64. doi: 10.1016/j.bbadis.2014.01.004. Epub 2014 Jan 14. Biochim Biophys Acta. 2014. PMID: 24440524 Free article.