A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

by Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger
Published 2019-12-01

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

by Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki, Véronique Paquis-Flucklinger, Sylvie Bannwarth
Published 2018-04-01

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

by Konstantina Fragaki, Annabelle Chaussenot, Jean-François Benoist, Samira Ait-El-Mkadem, Sylvie Bannwarth, Cécile Rouzier, Charlotte Cochaud, Véronique Paquis-Flucklinger

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations

by Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, Cécile Rouzier
Published 2023-11-01

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

by Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Published 2021-09-01

Primary mitochondrial disorders and mimics: Insights from a large French cohort

by Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Published 2024-06-01