Imen Dorboz

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

Myelin Development, Myelin Sheath, Neurodegenerative Diseases +15

Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

Imen Dorboz, Hélène Dumay‐Odelot, K. Boussaid et al. · Neurology Genetics · 2018 · 86 citations · Full text

Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients

Xavier Ayrignac, Clarisse Carra‐Dallière, Nicolas Menjot de Champfleur et al. · Brain · 2014 · 73 citations · Full text

Adult-onset Genetic Leukoencephalopathies, Mri Pattern-based Approach, Systematic Biological Screening +17