Chloé Angelini

8PUBLICATIONS
122CO-AUTHORS
Biomedical imagingCardiology (incl. cardiovascular diseases)Medical biochemistry - inorganic elements and compoundsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (8)

|Aug 13, 2026
Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.

|Oct 11, 2025
Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Ignacio Antolin-Sanfeliz, Anna-Gaelle Giguet-Valard, Sophie Duclos

|Aug 28, 2025
An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.

Barbara Gnutti, Arcangela Iuso, Chloé Angelini

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Dec 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Manon Degoutin, Chloé Angelini, Claire Bar

|Oct 05, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Guillaume Jouret, Matthieu Egloff, Emilie Landais

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Frequent Collaborators

2 joint publications

Christel Depienne

2 joint publications

Giovanni Stevanin

2 joint publications

Cyril Goizet

1 joint publications

William Camu