Publications by authors named "Annabelle Chaussenot"

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Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, Cyril Goizet, Olivier Patat, Annabelle Chaussenot

Genet Med· December 2025

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The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Guillaume Cogan, Marion Houot, Julie Bogoin, Sandrine Noël, Kathy Larcher, Annabelle Chaussenot

Brain· November 2025

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Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Endrit Shumeri, Ebrahem Mandorah, Nathalie Martini, Amandine Boyer, Cécile Halbert, Annabelle Chaussenot

J Peripher Nerv Syst· September 2025

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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, Stephanie L Safgren, Cecilia Marelli, Annabelle Chaussenot

Brain· November 2024

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Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.
Annabelle Chaussenot, Xavier Ayrignac, Nicolas Chatron, Terry Granchon-Riolzir, Pierre Labauge

Eur J Hum Genet· July 2024

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Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait-El-Mkadem Saadi

Ann Clin Transl Neurol· June 2024

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A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot

Genes (Basel)· November 2023

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Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
Samira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, Konstantina Fragaki, Annabelle Chaussenot

Eur J Med Genet· December 2022

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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, Agathe Roubertie, Elizabeth Ollagnon, Annabelle Chaussenot

Genet Med· November 2021

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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth

Acta Neuropathol Commun· September 2021

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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Jean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, Cecilia Marelli, Fabienne Ory-Magne, Annabelle Chaussenot

J Neurol· May 2021

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DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Maria Lytrivi, Valérie Senée, Paraskevi Salpea, Federica Fantuzzi, Anne Philippi, Annabelle Chaussenot

Eur J Endocrinol· March 2021

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Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Elamine Zereg, Annabelle Chaussenot, Godelieve Morel, Sylvie Bannwarth, Sabrina Sacconi

Hum Mutat· August 2020

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Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
Françoise Bergametti, Geraldine Viot, Christophe Verny, Marie Pierre Brechard, Christian Denier, Annabelle Chaussenot

J Med Genet· June 2020

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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Laure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, Céline Moutou, Marion Imbert-Bouteille, Annabelle Chaussenot

Sci Rep· June 2020

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A novel variant m.8561C>T in the overlapping region of and in a child with early-onset severe neurological signs.
Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth

Mol Genet Metab Rep· December 2019

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Annabelle Chaussenot

J Med Genet· August 2019

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Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
Daniele Mandia, Annabelle Chaussenot, Gérard Besson, Foudil Lamari, Giovanni Castelnovo

J Neurol· August 2019

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NDUFS6 related Leigh syndrome: a case report and review of the literature.
Cécile Rouzier, Annabelle Chaussenot, Konstantina Fragaki, Valérie Serre, Samira Ait-El-Mkadem

J Hum Genet· July 2019

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deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.
Annabelle Chaussenot, Cécile Rouzier, Konstantina Fragaki, Sabrina Sacconi, Samira Ait-El-Mkadem

Neurol Genet· October 2018

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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, Annabelle Chaussenot

BMJ Open· October 2018

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Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki

BMC Med Genet· April 2018

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Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.
Konstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, Sylvie Bannwarth, Cecile Rouzier

Mol Genet Metab· July 2017

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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Annabelle Chaussenot

Hum Mol Genet· May 2017

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