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Author/Creator Meunier, Audrey

1. Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Issue 1 (December 2017)

Authors:
Van de Sompele, Stijn; Pécheux, Lucie; Couso, Jorge; Meunier, Audrey; Sanchez, Mayka; De Baere, Elfride
Journal:
Scientific reports
Issue:
Volume 7:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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2. Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness. (4th March 2019)

Authors:
Tourville, Aurore; Michiels, Christelle; Condroyer, Christel; Meunier, Audrey; Cordonnier, Monique; Sahel, José-Alain; Audo, Isabelle; Abramowicz, Marc; Zeitz, Christina
Journal:
Ophthalmic genetics
Issue:
Volume 40:Number 2(2019)
Page Start:
182
Record Type:
Journal Article
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3. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. (June 2020)

Authors:
Charif, Majida; Chevrollier, Arnaud; Gueguen, Naïg; Bris, Céline; Goudenège, David; Desquiret-Dumas, Valérie; Leruez, Stéphanie; Colin, Estelle; Meunier, Audrey; Vignal, Catherine; Smirnov, Vasily; Defoort-Dhellemmes, Sabine; Drumare Bouvet, Isabelle; Goizet, Cyril; Votruba, Marcela; Jurkute, Ner...
Journal:
Neurology
Issue:
Volume 6:Number 3(2020)
Page Start:
Record Type:
Journal Article
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