Stéphanie Paquay

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Martina Huemer, Daria Diodato, Diego Martinelli et al. · Journal of Inherited Metabolic Disease · 2019 · 76 citations · Full text

Public Health, Genetics, Molecular Medicine +15

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Ana Töpf, Dan Cox, Irina Zaharieva et al. · Nature Genetics · 2024 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mitochondrial acetoacetyl‐CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Stéphanie Paquay, Agnès Bourillon, Samia Pichard et al. · Journal of Inherited Metabolic Disease · 2017 · 27 citations · Full text

Life Sciences, Neurology, Neuroscience +14

ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism

Joseph P. Dewulf, Stéphanie Paquay, Étienne Marbaix et al. · Journal of Biological Chemistry · 2021 · 18 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17