Marie‐Aude Spitz

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Nadège Calmels, Elena Botta, Nan Jia et al. · Journal of Medical Genetics · 2018 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delineating <i>FOXG1</i> syndrome

Nancy Végas, Mara Cavallin, Camille Maillard et al. · Neurology Genetics · 2018 · 77 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Increased diagnostic yield in complex dystonia through exome sequencing

Thomas Wirth, Christine Tranchant, Nathalie Drouot et al. · Parkinsonism & Related Disorders · 2020 · 56 citations · Full text

Life Sciences, Neurology, Neuroscience +10

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Ekaterina Ivanova, Frédéric Tran Mau‐Them, Saima Riazuddin et al. · The American Journal of Human Genetics · 2017 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz et al. · European Journal of Paediatric Neurology · 2019 · 44 citations · Full text

Life Sciences, Genetics, Neurology +11