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938720 ; 537500-5

⇧ RWTH Aachen ⇧

Recent Publications

All known publications ...
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http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Preprint Leitão, E. ; Santini, A. ; Cogne, B. ; et al
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
55 Seiten (2025) [10.1101/2025.09.02.25334923]2025     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Quade, A. (Corresponding author)RWTH* ; Lischka, A.RWTH* ; Albani, S.RWTH* ; Rossetti, G.RWTH* ; Hageb, Z.-N.RWTH* ; Rolke, R.RWTH* ; Kurth, I.RWTH* ; Katona, I. K.RWTH* ; Eggermann, K.RWTH* ; Namer, B.RWTH* ; Lampert, A.RWTH* ; Dohrn, M. F.RWTH* ; Schacht, G. M.RWTH* ; Weis, J.RWTH* ; Häusler, M.RWTH*
Genetic variants and clinical phenotyping in 39 pediatric patients with neuropathic pain
Neuropediatrics : journal of pediatrics, neurobiology and neurogenetics 56(04), 249-258 (2025) [10.1055/a-2595-0572]2025   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article/Contribution to a conference proceedings Lischka, A.RWTH* ; Eggermann, K.RWTH* ; Maier, A.RWTH* ; Hasan, D.RWTH* ; Franken, L.RWTH* ; Michalewicz, E.RWTH* ; Götzl, R.RWTH* ; Lohmann, T.RWTH* ; Häusler, M. G.RWTH* ; Elbracht, M.RWTH* ; Kurth, I.RWTH* ; Kraft, F.RWTH* ; Knopp, C.RWTH*
Biallelic loss-of-function variants in IST1 are associated with a complex neurologic disorder
202457. Conference of the European-Society-of-Human-Genetics, ESHG 2024, BerlinBerlin, Germany, 1 Jun 2024 - 4 Jun 20242024-06-012024-06-04 European journal of human genetics 32(Supplement 2), P11.096.C (2024) special issue: "Abstracts from the 57th European Society of Human Genetics (ESHG) Conference"2024     Homepage of journal BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Preprint Epi25 Collaborative (Collaboration author) ; Chen, S. ; Abou-Khalil, B. W. ; et al
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
48 Seiten (2024) [10.1101/2023.02.22.23286310]2024     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Roos, A. (Corresponding author) ; Häusler, M. G.RWTH* ; Kollipara, L. ; Topf, A. ; Preusse, C. ; Stucka, R. ; Nolte, K.RWTH* ; Strom, T. ; Berutti, R. ; Jiang, X. ; Koll, R. ; Lochmüller, H. ; Schacht, S. M.RWTH* ; Zahedi, R. P. ; Weis, J.RWTH* ; Senderek, J.
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
Journal of neuromuscular diseases 11(5), 1131-1137 (2024) [10.3233/JND-240050]2024     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article/Contribution to a conference proceedings Kraft, F.RWTH* ; Begemann, M.RWTH* ; Lausberg, E.RWTH* ; Lischka, A.RWTH* ; Holschbach, P. B.RWTH* ; Pappa, A.RWTH* ; Franken, L.RWTH* ; Elbracht, M.RWTH* ; Eggermann, K.RWTH* ; Häusler, M. G.RWTH* ; Kurth, I.RWTH* ; Knopp, C.RWTH*
Further evidence that biallelic nonsense variants in ATL1 cause complicated hereditary spastic paraplegia
202456. European Society of Human Genetics (ESHG) Conference, GlasgowGlasgow, UK, 10 Jun 2023 - 13 Jun 20232023-06-102023-06-13 European journal of human genetics 32(Supplement 1), EP10.049 (2024) special issue: "Abstracts from the 56th European Society of Human Genetics (ESHG) Conference"2024     Homepage of journal BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Epi25 Collaborative (Collaboration author) ; Epi25 Collaborative (Collaboration author) ; Chen, S. (Contributor) ; et al
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Nature neuroscience 27(10), 1546-1726 (2024) [10.1038/s41593-024-01747-8]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Kraft, F.RWTH* ; Rodriguez-Aliaga, P. ; Yuan, W. ; et al
Brain malformations and seizures by impaired chaperonin function of TRiC
Science 386(6721), 516-525 (2024) [10.1126/science.adp8721]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Greguletz, P. ; Plötz, M. ; Baade-Büttner, C. ; et al
Different pain phenotypes are associated with anti-Caspr2 autoantibodies
Journal of neurology 271(5), 2736-2744 (2024) [10.1007/s00415-024-12224-4]2024     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Moreno-Brauer, D. ; Häusler, M. G.RWTH* ; Kluger, G. ; Hensler, J. ; van Baalen, A.
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome
Neuropediatrics : journal of pediatric, neurobiology and neurogenetics 55(1), 9-15 (2024) [10.1055/s-0043-1774318]2024     Files BibTeX | EndNote: XML, Text | RIS

All known publications ...
Download: BibTeX | EndNote XML,  Text | RIS |