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Molecular Genetics and Metabolism|May 23, 2017
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutationKonstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, et al.
Molecular Genetics and Metabolism Reports|December 3, 2019
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signsKonstantina Fragaki, Annabelle Chaussenot, Valerie Serre, et al.
Annals of Neurology|March 30, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndromeAnnabelle Chaussenot, Sylvie Bannwarth, Cecile Rouzier, et al.
Neuromuscular Disorders : NMD|November 7, 2016
A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibersGodelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersCeline Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
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