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Author

Chloé Angelini

Observed names: Angelini, Chloe, Angelini, Chloé, Angelini, Chloé, Ariane, C Angelini, C. Angelini, Chloe Angelini, Chloé Angélini
Institutions: Centre National de la Recherche Scientifique, Université de Bordeaux, Inserm, École Pratique des Hautes Études, Centre Hospitalier Universitaire de Bordeaux, Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, Hôpital Pellegrin, Maladies Rares: Génétique et Métabolisme
Observed institutions: Centre National de la Recherche Scientifique, Université de Bordeaux, Inserm, École Pratique des Hautes Études, Centre Hospitalier Universitaire de Bordeaux, Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, Hôpital Pellegrin, Maladies Rares: Génétique et Métabolisme
ORCID: 0000-0002-5825-5319
Observed ORCID: 0000-0002-5825-5319
OpenAlex ID: A5014478650
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
2021 · Marie Le Roux, Magalie Barth, et al. · European Journal of Paediatric Neurology · 75
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2025 · Caroline Nava, Benjamin Cogne, et al. · Nature Genetics · 57
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PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
2018 · Chloé Angelini, Julien Van Gils, et al. · European Journal of Medical Genetics · 54
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
2021 · Audrey Schalk, Margot A. Cousin, et al. · Journal of Medical Genetics · 32
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models
2022 · Laetitia Dard, Christophe Hubert, et al. · Journal of Clinical Investigation · 29
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Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis
2020 · Valentin Ruault, Kevin Yauy, et al. · Arthritis & Rheumatology · 17
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Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
2022 · Christelle M. Durand, Chloé Angelini, et al. · BMC Neurology · 13
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Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
2020 · Fenja Markus, Chloé Angelini, et al. · Molecular Genetics & Genomic Medicine · 12
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Neuropathy in GAA ‐ FGF14 Late‐Onset Cerebellar Ataxia ( SCA27B ): Prevalence and Characteristics
2025 · Julian Theuriet, Lukas Paulet, et al. · European Journal of Neurology · 10
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Autosomal Dominant MPAN : Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes
2023 · Chloé Angelini, Christelle Marie Durand, et al. · Movement Disorders · 9
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
2022 · Guillaume Jouret, Matthieu Egloff, et al. · American Journal of Medical Genetics Part A · 9
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
2021 · Chloé Angelini, Aurélien Trimouille, et al. · European Journal of Medical Genetics · 9
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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
2024 · Manon Degoutin, Chloé Angelini, et al. · European Journal of Neurology · 8
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Phenotype Spectrum of TRPM3 ‐Associated Disorders
2025 · Laura Jolitz, Ingo Helbig, et al. · Annals of Neurology · 6
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French guidelines for the diagnosis and management of pure hereditary spastic paraplegia
2025 · L. Mania-Pâris, C. Ewenczyk, et al. · Revue Neurologique · 5
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)
2023 · Sarah Courtois, Chloé Angelini, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 5
Evidence of mosaicism in SPAST variant carriers in four French families
2021 · Chloé Angelini, Cyril Goizet, et al. · European Journal of Human Genetics · 4
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Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA
2020 · Chloé Angelini, Marie Thibaud, et al. · Neuropediatrics · 4
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An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research
2025 · Barbara Gnutti, Arcangela Iuso, et al. · Brain Sciences · 3
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GABRA2 ‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
2025 · Marie Adamo‐Croux, Chloé Angelini, et al. · Epilepsia · 3
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Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies
2024 · Chloé Angelini, Claire Bar, et al. · European Journal of Pain · 3
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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
2025 · Salima El Chehadeh, Solveig Heide, et al. · Genome Medicine · 2
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Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
2026 · Clément Hersent, Lise Larrieu, et al. · European Journal of Human Genetics · 1
The Two Faces of Pediatric SCA2
2025 · Nicolas Rive Le Gouard, Maissa G. Bah, et al. · European Journal of Neurology · 1
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Works count: 47
Citation count: 425
H-index: 10
I10-index: 10
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