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Author/Creator Friocourt, Gaelle

1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022)

Authors:
Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour...
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
996
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a. (10th January 2019)

Authors:
Marechal, Damien; Brault, Véronique; Leon, Alice; Martin, Dehren; Lopes Pereira, Patricia; Loaëc, Nadege; Birling, Marie-Christine; Friocourt, Gaelle; Blondel, Marc; Herault, Yann
Journal:
Human molecular genetics
Issue:
Volume 28:Number 9(2019)
Page Start:
1561
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗