Odile Boespflug-Tanguy

9PUBLICATIONS
122CO-AUTHORS
Immunogenetics (incl. genetic immunology)AutoimmunityEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesCell and nuclear division
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Publications (9)

|Jul 16, 2026
Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).

|Feb 12, 2026
Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.

Yemsratch Akalu, Justin Taft, Thomas Berger

|Aug 02, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli

|Feb 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Silvestre Cuinat, Paul Rollier, Katheryn Grand

|Feb 11, 2025
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects.

Sophie Lebon, Arnaud Bruneel, Séverine Drunat

|Nov 17, 2023
Questioning cognitive heterogeneity and intellectual functioning in fetal alcohol spectrum disorders from the Wechsler Intelligence Scale for Children.

Eliot Kerdreux, Justine Fraize, Pauline Garzón

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Frequent Collaborators

4 joint publications

Imen Dorboz

3 joint publications

Fanny Mochel

2 joint publications

Justine Fraize

2 joint publications

Eliot Kerdreux