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European Journal of Human Genetics : EJHG|April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Mitochondrion|February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Mitochondrion|March 1, 2016
Inactivation of Pif1 helicase causes a mitochondrial myopathy in miceSylvie Bannwarth, Laetitia Berg-Alonso, Gaëlle Augé, et al.
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Acta Neuropathologica|March 16, 2019
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouseEmmanuelle C Genin, Blandine Madji Hounoum, Sylvie Bannwarth, et al.
Journal of Neuromuscular Diseases|April 12, 2021
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019Jonathan Pini, Gabriele Siciliano, Pauline Lahaut, et al.
EMBO Molecular Medicine|December 16, 2015
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosisEmmanuelle C Genin, Morgane Plutino, Sylvie Bannwarth, et al.
Brain : a Journal of Neurology|June 18, 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.
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