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Unstable TTTTA/TTTCA expansions in MARCH6 are associated wi..:

Florian, Rahel ; Kraft, Florian ; Leitão, Elsa...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-019-12763-9. , 2019

Link: https://pasteur.hal.science/pasteur-02562487

RT Journal
T1 <Title>Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftinserm:oai:HAL:pasteur-02562487v1&Exemplar=1&LAN=DE
				
A1 Florian, Rahel
A1 Kraft, Florian
A1 Leitão, Elsa
A1 Kaya, Sabine
A1 Klebe, Stephan
A1 Magnin, Eloi
A1 van Rootselaar, Anne-Fleur
A1 Buratti, Julien
A1 Kühnel, Theresa
A1 Schröder, Christopher
A1 Giesselmann, Sebastian
A1 Tschernoster, Nikolai
A1 Altmueller, Janine
A1 Lamiral, Anaide
A1 Keren, Boris
A1 Nava, Caroline
A1 Bouteiller, Delphine
A1 Forlani, Sylvie
A1 Jornea, Ludmila
A1 Kubica, Regina
A1 Ye, Tao
A1 Plassard, Damien
A1 Jost, Bernard
A1 Meyer, Vincent
A1 Deleuze, Jean-François
A1 Delpu, Yannick
A1 Avarello, Mario
A1 Vijfhuizen, Lisanne
A1 Rudolf, Gabrielle
A1 Hirsch, Edouard
A1 Kroes, Thessa
A1 Reif, Philipp
A1 Rosenow, Felix
A1 Ganos, Christos
A1 Vidailhet, Marie
A1 Thivard, Lionel
A1 Alexandre, Mathieu
A1 Bourgeron, Thomas
A1 Kurth, Ingo
A1 Rafehi, Haloom
A1 Steenpass, Laura
A1 Horsthemke, Bernhard
A1 Leguern, Eric
A1 Klein, Karl Martin
A1 Labauge, Pierre
A1 Bennett, Mark
A1 Bahlo, Melanie
A1 Gecz, Jozef
A1 Corbett, Mark
A1 Tijssen, Marina
A1 van den Maagdenberg, Arn
A1 Depienne, Christel
PB HAL CCSD; Nature Publishing Group
YR 2019
K1 Neurodegenerative diseases
K1 Neurological disorders
K1 Epilepsy
K1 Genomic instability
K1 MESH: Adolescent
K1 MESH: Adult
K1 MESH: Ubiquitin-Protein Ligases/genetics*
K1 MESH: Young Adult
K1 MESH: Aged
K1 MESH: Chromosome Mapping
K1 MESH: DNA Repeat Expansion*
K1 MESH: Epilepsies
K1 Myoclonic/genetics*
K1 MESH: Female
K1 MESH: Humans
K1 MESH: Introns
K1 MESH: Male
K1 MESH: Membrane Proteins/genetics*
K1 MESH: Middle Aged
K1 MESH: Pedigree
K1 [SDV.GEN]Life Sciences [q-bio]/Genetics
K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-019-12763-9
LK http://dx.doi.org/https://pasteur.hal.science/pasteur-02562487
DO https://pasteur.hal.science/pasteur-02562487
SF ELIB - SuUB Bremen

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