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Chloé Angelini

7PUBLICATIONS

120CO-AUTHORS

Cardiology (incl. cardiovascular diseases)Medical biochemistry - inorganic elements and compoundsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Neurogenetics

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Publications (7)

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|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 <i>C19orf12</i> 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

|May 07, 2021

Evidence of mosaicism in SPAST variant carriers in four French families.

Chloé Angelini, Cyril Goizet, Samia Ait Said

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Frequent Collaborators

2 joint publications

Christel Depienne

2 joint publications

Cyril Goizet

1 joint publications

William Camu

1 joint publications

Perrine Pennamen

1 joint publications

Giovanni Stevanin

1 joint publications

Guillaume Jouret

1 joint publications

Matthieu Egloff

1 joint publications

Paul Kuentz

1 joint publications

Clémence Jacquin

1 joint publications

Manon Degoutin

Frequent Collaborators

2 joint publications

Christel Depienne

2 joint publications

Cyril Goizet

1 joint publications

William Camu

1 joint publications

Perrine Pennamen

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