C. Rouzier's Profile

Role	Title	Level	Year	L/R
🐜	A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. 23 auth. S. Bannwarth, S. Ait-El-Mkadem, A. Chaussenot, E. Génin, S. Lacas‐Gervais, K. Fragaki, Laetitia Berg-Alonso, Y. Kageyama, V. Serre, D. Moore, ... A. Verschueren, C. Rouzier, I. Le Ber, Gaëlle Augé, Charlotte Cochaud, F. Lespinasse, K. N’guyen, A. D. de Septenville, A. Brice, P. Yu-Wai-Man, H. Sesaki, J. Pouget, V. Paquis-Flucklinger	8	2014	8 🐜
🦁	The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. 13 auth. C. Rouzier, S. Bannwarth, A. Chaussenot, A. Chevrollier, A. Verschueren, N. Bonello-Palot, K. Fragaki, A. Cano, J. Pouget, J. Pellissier, ... V. Procaccio, B. Chabrol, V. Paquis-Flucklinger	7	2012	7 🦁
🐜	Neurologic features and genotype‐phenotype correlation in Wolfram syndrome 9 auth. A. Chaussenot, S. Bannwarth, C. Rouzier, B. Vialettes, S. A. Mkadem, B. Chabrol, ... A. Cano, P. Labauge, V. Paquis-Flucklinger	7	2011	7 🐜
🐜	Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy 36 auth. S. Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, A. Chaussenot, S. Bannwarth, Bérengère François, E. Génin, K. Fragaki, Catharina M. L. Volker-Touw, Christelle Vasnier, V. Serre, K. V. van Gassen, F. Lespinasse, S. Richter, G. Eisenhofer, ... C. Rouzier, F. Mochel, A. de Saint-Martin, Marie-Thérèse Abi Wardé, Monique G M de Sain-van der Velde, J. Jans, J. Amiel, Žiga Avsec, Christian Mertes, T. Haack, T. Strom, T. Meitinger, P. Bonnen, Robert W. Taylor, J. Gagneur, P. V. van Hasselt, A. Rötig, A. Delahodde, H. Prokisch, S. Fuchs, V. Paquis-Flucklinger	6	2016	6 🐜
🐜	Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome 12 auth. Ainara Cano, C. Rouzier, Sophie Monnot, Brigitte Chabrol, John Conrath, Patrick Lecomte, ... Bruno Delobel, Pascal Boileau, René Valéro, Vincent Procaccio, V. Paquis-Flucklinger, Bernard Vialettes	6	2007	6 🐜
🦁	A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions 13 auth. C. Rouzier, D. Moore, C. Delorme, S. Lacas‐Gervais, S. Ait-El-Mkadem, K. Fragaki, F. Burté, V. Serre, S. Bannwarth, A. Chaussenot, ... M. Catala, P. Yu-Wai-Man, V. Paquis-Flucklinger	6	2017	6 🦁
🐜	Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. 23 auth. S. Bannwarth, S. Ait-El-Mkadem, A. Chaussenot, E. Génin, S. Lacas‐Gervais, K. Fragaki, Laetitia Berg-Alonso, Y. Kageyama, V. Serre, D. Moore, ... A. Verschueren, C. Rouzier, I. Le Ber, Gaëlle Augé, Charlotte Cochaud, F. Lespinasse, K. N’guyen, A. D. de Septenville, A. Brice, P. Yu-Wai-Man, H. Sesaki, J. Pouget, V. Paquis-Flucklinger	5	2014	5 🐜
🐜	An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature 16 auth. J. Lerat, L. Jonard, N. Loundon, S. Christin‐Maitre, D. Lacombe, C. Goizet, C. Rouzier, L. Maldergem, S. Gherbi, E. Garabédian, ... J. Bonnefont, P. Touraine, I. Mosnier, A. Munnich, F. Denoyelle, S. Marlin	5	2016	5 🐜
🦁	The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein 15 auth. C. Rouzier, S. Le Guédard-Méreuze, K. Fragaki, V. Serre, J. Miró, S. Tuffery-Giraud, A. Chaussenot, S. Bannwarth, C. Caruba, E. Ostergaard, ... J. Pellissier, C. Richelme, C. Espil, B. Chabrol, V. Paquis-Flucklinger	5	2010	5 🦁
🦁	LETTER TO THE EDITOR Reply: MFN2, a new gene responsible for mitochondrial DNA depletion 15 auth. C. Rouzier, V. Serre, A. Chaussenot, S. Bannwarth, A. Chevrollier, A. Verschueren, N. Bonello-Palot, K. Fragaki, A. Cano, Jean Pouget, ... J. Pellissier, Vincent Procaccio, Arnold Munnich, Brigitte Chabrol, V. Paquis-Flucklinger	5	2012	5 🦁