Mathilde Mairey

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Dürr et al. · Brain · 2015 · 104 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin et al. · Brain · 2021 · 69 citations · Full text

Life Sciences, Genetics, Neurology +17

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

Elisa Teyssou, Laura Chartier, Maria del Mar Amador et al. · Neurobiology of Aging · 2017 · 63 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

Sara Morais, Laure Raymond, Mathilde Mairey et al. · European Journal of Human Genetics · 2017 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. Hamed et al. · European Journal of Human Genetics · 2016 · 35 citations · Full text

Life Sciences, Genetics, Neurology +7