Hannah Stamberger onbezoldigd medewerker

Publicaties Hannah Stamberger

SUDEP risk is influenced by longevity genomics : a polygenic risk score study

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EBioMedicine - ISSN 2352-3964-118 (2025) p. 1-14
Auteur(s)
    Helena Martins, James D. Mills, Susanna Pagni, Medine I. Gulcebi, Angeliki Vakrinou, Patrick B. Moloney, Lisa M. Clayton, Ravishankara Bellampalli, Hannah Stamberger, Sarah Weckhuysen, Pasquale Striano, Federico Zara, Richard D. Bagnall, Rebekah V. Harris, Kate M. Lawrence, Lynette G. Sadleir, Douglas E. Crompton, Daniel Friedman, Juliana Laze, Ling Li, Samuel F. Berkovic, Christopher Semsarian, Ingrid E. Scheffer, Orrin Devinsky, Karoline Kuchenbaecker, Simona Balestrini, Sanjay M. Sisodiya

Heterozygous missense variants in the ATPase phospholipid transporting 9A gene, ATP9A, alter dendritic spine maturation and cause dominantly inherited nonsyndromic intellectual disability

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Human mutation - ISSN 1059-7794-2025:1 (2025) p. 1-15
Auteur(s)
    Amelie Cordovado, Yvan Herenger, Coline Cormier, Estrella Lopez-Martin, Hannah Stamberger, Laurence Faivre, Anne-Sophie Denomme-Pichon, Antonio Vitobello, Hamza Hadj Abdallah, Giulia Barcia, Thomas Courtin, Beatriz Martinez-Delgado, Eva Bermejo-Sanchez, Maria J. Barrero, Brooklynn Gasser, Stephane Bezieau, Sebastien Kury, Sarah Weckhuysen, Frederic Laumonnier, Annick Toutain, Marie-Laure Vuillaume

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

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JCI Insight - ISSN 2379-3708-10:7 (2025) p. 1-16
Auteur(s)

Early mortality in STXBP1-related disorders

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Neurological sciences - ISSN 1590-1874-46:3 (2025) p. 1339-1347
Auteur(s)
    Francesca Furia, Charlene Son Rigby, Ingrid E. Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Ganna Balagura, Bruria Benzeev, Hilgo Bruining, Alejandra Darling, Francesca Furia, Ángeles García Cazorla, Misra-Isrie Mala, Mathieu Milh, Rikke Steensbjerre Møller, Hannah Stamberger, Pasquale Striano, Steffen Syrbe, Kim Marie Thalwitzer, Matthijs Verhage, Sarah Weckhuysen, Guido Rubboli, Rikke S. Møller, Elena Gardella

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

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Nature neuroscience - ISSN 1097-6256-27:10 (2024) p. 1864-1879
Auteur(s)
    Siwei Chen, Bassel W. Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Alison Anderson, Joe Anderson, Danielle M. Andrade, Grazia Annesi, Mutluay Arslan, Pauls Auce, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Eric Banks, Carmen Barba, Karen Barboza, Fabrice Bartolomei, Nick Bass, Larry W. Baum, Tobias H. Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Claudia Bianchini, Francesca Bisulli, Douglas Blackwood, Ilan Blatt, Ingo Borggräfe, Christian Bosselmann, Vera Braatz, Harrison Brand, Knut Brockmann, Russell J. Buono, Robyn M. Busch, S. Hande Caglayan, Laura Canafoglia, Christina Canavati, Barbara Castellotti, Gianpiero L. Cavalleri, Felecia Cerrato, Francine Chassoux, Christina Cherian, Peter De Jonghe, Hannah Stamberger, Sarah Weckhuysen, Samuel F. Berkovic