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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: horsthemke b. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.
Steenpass L, Kanber D, Hiber M, Buiting K, Horsthemke B, Lohmann D. Steenpass L, et al. Among authors: horsthemke b. PLoS One. 2013 Sep 3;8(9):e74159. doi: 10.1371/journal.pone.0074159. eCollection 2013. PLoS One. 2013. PMID: 24019952 Free PMC article.
The origin of the RB1 imprint.
Kanber D, Buiting K, Roos C, Gromoll J, Kaya S, Horsthemke B, Lohmann D. Kanber D, et al. Among authors: horsthemke b. PLoS One. 2013 Nov 25;8(11):e81502. doi: 10.1371/journal.pone.0081502. eCollection 2013. PLoS One. 2013. PMID: 24282601 Free PMC article.
Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function.
Schröder C, Leitão E, Wallner S, Schmitz G, Klein-Hitpass L, Sinha A, Jöckel KH, Heilmann-Heimbach S, Hoffmann P, Nöthen MM, Steffens M, Ebert P, Rahmann S, Horsthemke B. Schröder C, et al. Among authors: horsthemke b. Epigenetics Chromatin. 2017 Jul 26;10(1):37. doi: 10.1186/s13072-017-0144-2. Epigenetics Chromatin. 2017. PMID: 28747224 Free PMC article.
292 results