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Angelini, Chloé
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1

Mutation on MT-CO2 gene induces mitochondrial disease assoc..:

Courtois, Sarah ; Angelini, Chloé ; M. Durand, Christelle...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1870 (2024)  1 - p. 166856 , 2024
Link: https://doi.org/10.1016/..
 
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2

Intégration des données histo-pathologiques, biochimiques e..:

Trimouille, Aurélien ; Courtois, Sarah ; Angelini, Chloé...
Morphologie.  107 (2023)  359 - p. 100623 , 2023
Link: https://doi.org/10.1016/..
 
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3

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spe..:

Angelini, Chloé ; Durand, Christelle Marie ; Fergelot, Patricia...
Movement Disorders.  38 (2023)  11 - p. 2103-2115 , 2023
Link: https://doi.org/10.1002/..
 
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4

Whole-exome sequencing confirms implication of VPS13D as a ..:

Durand, Christelle M. ; Angelini, Chloé ; Michaud, Vincent...
BMC Neurology.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

HRAS germline mutations impair LKB1/AMPK signaling and mito..:

Dard, Laetitia ; Hubert, Christophe ; Esteves, Pauline...
Journal of Clinical Investigation.  132 (2022)  8 - p. , 2022
Link: https://doi.org/10.1172/..
 
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6

CACNA1A-associated epilepsy: Electroclinical findings and t..:

Le Roux, Marie ; Barth, Magalie ; Gueden, Sophie...
European Journal of Paediatric Neurology.  33 (2021)  - p. 75-85 , 2021
Link: https://doi.org/10.1016/..
 
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7

CHN1 and duane retraction syndrome: Expanding the phenotype..:

Angelini, Chloé ; Trimouille, Aurélien ; Arveiler, Benoit...
European Journal of Medical Genetics.  64 (2021)  4 - p. 104188 , 2021
Link: https://doi.org/10.1016/..
 
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8

Evidence of mosaicism in SPAST variant carriers in four Fre..:

Angelini, Chloé ; Goizet, Cyril ; Said, Samia Ait...
European Journal of Human Genetics.  29 (2021)  7 - p. 1158-1163 , 2021
Link: https://doi.org/10.1038/..
 
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9

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset..:

Ruault, Valentin ; Yauy, Kevin ; Fabre, Aurélie...
Arthritis & Rheumatology.  72 (2020)  10 - p. 1689-1693 , 2020
Link: https://doi.org/10.1002/..
 
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10

Rare variants in the GABAA receptor subunit ε identified in..:

Markus, Fenja ; Angelini, Chloé ; Trimouille, Aurelien...
Molecular Genetics & Genomic Medicine.  8 (2020)  9 - p. , 2020
Link: https://doi.org/10.1002/..
 
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11

Major intra-familial phenotypic heterogeneity and incomplet..:

Angelini, Chloé ; Van Gils, Julien ; Bigourdan, Antoine...
European Journal of Medical Genetics.  62 (2019)  6 - p. 103530 , 2019
Link: https://doi.org/10.1016/..
 
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12

Autosomal Dominant MPAN : Mosaicism Expands the Clinical Sp..:

Angelini, Chloé ; Durand, Christelle Marie ; Fergelot, Patricia...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.29576.  , 2023
Link: https://hal.science/hal-..
 
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13

De novo coding variants in the AGO1 gene cause a neurodevel..:

SCHALK, Audrey ; COUSIN, Margot A ; DSOUZA, Nikita R...
https://oskar-bordeaux.fr/handle/20.500.12278/184714.  , 2023
Link: https://oskar-bordeaux.f..
 
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14

Autosomal Dominant MPAN : Mosaicism Expands the Clinical Sp..:

Angelini, Chloé ; Durand, Christelle Marie ; Fergelot, Patricia...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.29576.  , 2023
Link: https://hal.science/hal-..
 
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15

Clinical and genomic delineation of the new proximal 19p13...:

JOURET, Guillaume ; EGLOFF, Matthieu ; LANDAIS, Emilie...
1552-4833.  , 2023
Link: https://oskar-bordeaux.f..
 
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