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Author/Creator Wiame, Elsa

1. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Issue 8 (2nd June 2017)

Authors:
Gold, Wendy A.; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G.; Worgan, Lisa; Hübner, Christian A.; Christodoulou, John; Adès, Lesley C.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2246
Record Type:
Journal Article
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4. NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay. Issue 4 (26th October 2021)

Authors:
Muffels, Irena J J; Wiame, Elsa; Fuchs, Sabine A; Massink, Maarten P G; Rehmann, Holger; Musch, Jiska L I; Van Haaften, Gijs; Vertommen, Didier; van Schaftingen, Emile; van Hasselt, Peter M
Journal:
Brain communications
Issue:
Volume 3:Issue 4(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation. Issue 3 (29th January 2019)

Authors:
Dewulf, Joseph P.; Wiame, Elsa; Dorboz, Imen; Elmaleh‐Bergès, Monique; Imbard, Apolline; Dumitriu, Dana; Rak, Malgorzata; Bourillon, Agnès; Helaers, Raphaël; Malla, Alisha; Renaldo, Florence; Boespflug‐Tanguy, Odile; Vincent, Marie‐Françoise; Benoist, Jean‐François; Wevers, Ron A.; Schlessinger, ...
Journal:
Annals of neurology
Issue:
Volume 85:Issue 3(2019)
Page Start:
385
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗