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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Published on 2 October 2023
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Description
 
Date de publication31/10/2019
Auteurs
Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kuhnel T, Schroder 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, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg A and Depienne C
Revue
Année2,019
Département / Service
CNRGH
Laboratoire
LBInf
Impact Factor 
InstitutJACOB
url DOI10.1038/s41467-019-12763-9

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