Marion Gaussen

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Christelle Tesson, Magdalena Nawara, Mustafa A. Salih et al. · The American Journal of Human Genetics · 2012 · 199 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +14

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schüle, José Leal Loureiro et al. · The American Journal of Human Genetics · 2013 · 181 citations · Full text

Medicine, Neurology, Neuroscience +12

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe, Alexander Lossos, Hamid Azzedine et al. · European Journal of Human Genetics · 2012 · 157 citations

Life Sciences, Genetics, Neurology +10

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio et al. · The American Journal of Human Genetics · 2014 · 122 citations · Full text

Life Sciences, Genetics, Neurology +10

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