Xavière Lornage

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet et al. · Acta Neuropathologica · 2017 · 62 citations

Life Sciences, Genetics, Molecular Genetics +6

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

Andrés Berardo, Xavière Lornage, Mridul Johari et al. · Journal of Neurology · 2019 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +13

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

Kirsley Chennen, Thomas Weber, Xavière Lornage et al. · PLoS ONE · 2020 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Xavière Lornage, Norma B. Romero, Claire A Grosgogeat et al. · Acta Neuropathologica · 2019 · 52 citations

Life Sciences, Genetics, Molecular Genetics +8