21. Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia. (December 2017) Authors: Bris, Celine; Rouaud, Tiphaine; Desquiret-Dumas, Valerie; Gueguen, Naig; Goudenege, David; Barth, Magalie; Bonneau, Dominique; Amati-Bonneau, Patrizia; Lenaers, Guy; Reynier, Pascal; Lebre, Anne-Sophie; Procaccio, Vincent Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant. (10th June 2015) Authors: Charif, Majida; Titah, Salah Mohamed Cherif; Roubertie, Agathe; Desquiret‐Dumas, Valérie; Gueguen, Naig; Meunier, Isabelle; Leid, Jean; Massal, Frédéric; Zanlonghi, Xavier; Mercier, Jacques; Raynaud de Mauverger, Eric; Procaccio, Vincent; de Camaret, Bénédicte Mousson; Lenaers, Guy; Hamel, Christ... Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant. (10th June 2015) Authors: Charif, Majida; Titah, Salah Mohamed Cherif; Roubertie, Agathe; Desquiret‐Dumas, Valérie; Gueguen, Naig; Meunier, Isabelle; Leid, Jean; Massal, Frédéric; Zanlonghi, Xavier; Mercier, Jacques; Raynaud de Mauverger, Eric; Procaccio, Vincent; de Camaret, Bénédicte Mousson; Lenaers, Guy; Hamel, Christ... Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. Issue 10 (11th July 2013) Authors: Bannwarth, Sylvie; Procaccio, Vincent; Lebre, Anne Sophie; Jardel, Claude; Chaussenot, Annabelle; Hoarau, Claire; Maoulida, Hassani; Charrier, Nathanaël; Gai, Xiaowu; Xie, Hongbo M; Ferre, Marc; Fragaki, Konstantina; Hardy, Gaëlle; Mousson de Camaret, Bénédicte; Marlin, Sandrine; Dhaenens, Claire... Journal: Journal of medical genetics Issue: Volume 50:Issue 10(2013) Page Start: 704 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions. Issue 5 (3rd July 2018) Authors: Codron, Philippe; Cassereau, Julien; Vourc'h, Patrick; Veyrat-Durebex, Charlotte; Blasco, Hélène; Kane, Selma; Procaccio, Vincent; Letournel, Franck; Verny, Christophe; Lenaers, Guy; Reynier, Pascal; Chevrollier, Arnaud Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 19:Issue 5/6(2018) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers. Issue 1 (March 2019) Authors: Najjar, Raymond P.; Reynier, Pascal; Caignard, Angélique; Procaccio, Vincent; Amati-Bonneau, Patrizia; Mack, Heather; Milea, Dan Journal: Journal of neuro-ophthalmology Issue: Volume 39:Issue 1(2019:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. Issue 3 (3rd December 2019) Authors: Tessarech, Marine; Gorce, Magali; Boussion, Françoise; Bault, Jean‐Philippe; Triau, Stéphane; Charif, Majida; Khiaty, Salim; Delorme, Benoit; Guichet, Agnès; Ziegler, Alban; Bris, Céline; Laquerrière, Annie; Fallet‐Bianco, Catherine; Jacquette, Aurélia; Salhi, Houria; Héron, Delphine; Reynier, Pa... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Issue 12 (10th November 2020) Authors: McCormick, Elizabeth M.; Lott, Marie T.; Dulik, Matthew C.; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda‐Alvarez, Daniel E.; Singh, Larry N.; Stanley, Christine M.; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shi... Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2028 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. Study of mitochondrial function in placental insufficiency. (July 2018) Authors: Lefebvre, Tiphaine; Roche, Ombeline; Seegers, Valérie; Cherif, Majida; Khiati, Salim; Gueguen, Naïg; Desquiret-Dumas, Valérie; Geffroy, Guillaume; Blanchet, Odile; Reynier, Pascal; Legendre, Guillaume; Lenaers, Guy; Procaccio, Vincent; Gascoin, Géraldine Journal: Placenta Issue: Volume 67(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. UNIT 1.23 mtDNA Variation and Analysis Using Mitomap and Mitomaster. Issue 1 (12th December 2013) Authors: Lott, Marie T.; Leipzig, Jeremy N.; Derbeneva, Olga; Xie, H. Michael; Chalkia, Dimitra; Sarmady, Mahdi; Procaccio, Vincent; Wallace, Douglas C. Journal: Current protocols in bioinformatics Issue: Volume 44:Issue 1(2013) Page Start: 1.23.1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗