1. A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies. Issue 1 (12th January 2021) Authors: Bocca, Cinzia; Le Paih, Victor; Chao de la Barca, Juan Manuel; Kouassy Nzoughet, Judith; Amati-Bonneau, Patrizia; Blanchet, Odile; Védie, Benoit; Géromin, Daniela; Simard, Gilles; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Orssaud, Christophe; Reynier, Pascal Journal: Human molecular genetics Issue: Volume 30:Issue 1(2021) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A randomized, double‐blind, placebo‐controlled trial evaluating cysteamine in Huntington's disease. Issue 6 (24th April 2017) Authors: Verny, Christophe; Bachoud‐Lévi, Anne‐Catherine; Durr, Alexandra; Goizet, Cyril; Azulay, Jean‐Philippe; Simonin, Clémence; Tranchant, Christine; Calvas, Fabienne; Krystkowiak, Pierre; Charles, Perrine; Youssov, Katia; Scherer, Clarisse; Prundean, Adriana; Olivier, Audrey; Reynier, Pascal; Saudou,... Journal: Movement disorders Issue: Volume 32:Issue 6(2017) Page Start: 932 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Achieving Expert-Level Interpretation of Serum Protein Electrophoresis through Deep Learning Driven by Human Reasoning. (7th September 2021) Authors: Chabrun, Floris; Dieu, Xavier; Ferre, Marc; Gaillard, Olivier; Mery, Anthony; Chao de la Barca, Juan Manuel; Taisne, Audrey; Urbanski, Geoffrey; Reynier, Pascal; Mirebeau-Prunier, Delphine Journal: Clinical chemistry Issue: Volume 67:Number 10(2021) Page Start: 1406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (August 2015) Authors: Leman, Géraldine; Gueguen, Naïg; Desquiret-Dumas, Valérie; Kane, Mariame Selma; Wettervald, Céline; Chupin, Stéphanie; Chevrollier, Arnaud; Lebre, Anne-Sophie; Bonnefont, Jean-Paul; Barth, Magalie; Amati-Bonneau, Patrizia; Verny, Christophe; Henrion, Daniel; Bonneau, Dominique; Reynier, Pascal; P... Journal: International journal of biochemistry & cell biology Issue: Volume 65(2015:Aug.) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy. Issue 10 (4th April 2017) Authors: Kane, Mariame Selma; Alban, Jennifer; Desquiret‐Dumas, Valérie; Gueguen, Naïg; Ishak, Layal; Ferre, Marc; Amati‐Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Reynier, Pascal; Chevrollier, Arnaud Journal: Journal of cellular and molecular medicine Issue: Volume 21:Issue 10(2017) Page Start: 2284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deep learning shows no morphological abnormalities in neutrophils in Alzheimer's disease. Issue 1 (20th February 2021) Authors: Chabrun, Floris; Dieu, Xavier; Doudeau, Nicolas; Gautier, Jennifer; Luque‐Paz, Damien; Geneviève, Franck; Ferré, Marc; Mirebeau‐Prunier, Delphine; Annweiler, Cédric; Reynier, Pascal Journal: Alzheimer's & dementia Issue: Volume 13:Issue 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Issue 2 (7th April 2021) Authors: Charif, Majida; Gueguen, Naïg; Ferré, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Chevrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenège, David; Bris, Céline; Kane, Selma; Alban, Jennifer; Chupin, Stéphanie; Wetterwald, Céline; Caporali, Leonardo; Tagliavini, Francesca; LaMorgia, Ch... Journal: Brain communications Issue: Volume 3:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dominant optic atrophy: Culprit mitochondria in the optic nerve. (July 2021) Authors: Lenaers, Guy; Neutzner, Albert; Le Dantec, Yannick; Jüschke, Christoph; Xiao, Ting; Decembrini, Sarah; Swirski, Sebastian; Kieninger, Sinja; Agca, Cavit; Kim, Ungsoo S.; Reynier, Pascal; Yu-Wai-Man, Patrick; Neidhardt, John; Wissinger, Bernd Journal: Progress in retinal and eye research Issue: Volume 83(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?. Issue 2 (30th June 2022) Authors: Zehden, Jason A.; Raviskanthan, Subahari; Mortensen, Peter W.; Ferré, Marc; Reynier, Pascal; Milea, Dan; Lee, Andrew G. Journal: Journal of neuro-ophthalmology Issue: Volume 42:Issue 2(2022) Page Start: 149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High‐throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts. Issue 6 (20th May 2021) Authors: Cretin, Emma; Lopes, Priscilla; Vimont, Elodie; Tatsuta, Takashi; Langer, Thomas; Gazi, Anastasia; Sachse, Martin; Yu‐Wai‐Man, Patrick; Reynier, Pascal; Wai, Timothy Journal: EMBO molecular medicine Issue: Volume 13:Issue 6(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗