Theresa Kühnel

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 2

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Genome Wide Analysis

Top Venues

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability. Epilepsia (2023)
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P A Stegmann, Els K Vanhoutte, Job A J Verdonschot, Frank J Kaiser, Frédéric Tran Mau Them, Marcello Scala, Pasquale Striano, Suzanna G M Frints, Emanuela Argilli, Elliott H Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M Kalscheuer, Bernhard Horsthemke, Amelie Piton, Christel Depienne
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature communications 13 (1) (2022)