Concepedia

Imen Dorboz

ID

Statistics

Publications

27

Citations

1.4K

H-Index

19

Active since

2006

Affiliations

Inserm(Current)

Délégation Paris 7

Assistance Publique – Hôpitaux de Paris

Université Paris Cité

Hôpital Robert-Debré

Imen Dorboz is an author at Inserm specializing in life sciences, genetics, and neurogenetic disorders.

ORCID

Publications per year

2006–2022

27

Publications

27

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 · 270 citations · Full text

, , +12

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 · 155 citations · Full text

, , +12

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 106 citations · Full text

, , +17

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

Imen Dorboz, Hélène Dumay‐Odelot, Yosra Bouyacoub et al. · Neurology Genetics · 2018 · 90 citations · Full text

, , +17

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 · 75 citations · Full text

, , +15

1–5 of 27