1. CHCHD10 mutations are not a common cause of SMN1‐negative type III/IV spinal motor atrophy. Issue 5 (31st August 2015) Authors: Morel, Godelieve; Rouzier, Cécile; Chaussenot, Annabelle; Ait‐El‐Mkadem, Samira; Bannwarth, Sylvie; Genin, Emmanuelle C.; Augé, Gaëlle; Chabrol, Brigitte; Pouget, Jean; Soriani, Marie Hélène; Sacconi, Sabrina; Paquis‐Flucklinger, Véronique Journal: Annals of neurology Issue: Volume 78:Issue 5(2015:Nov.) Page Start: 831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes. Issue 1 (December 2016) Authors: Fragaki, Konstantina; Chaussenot, Annabelle; Benoist, Jean-François; Ait-El-Mkadem, Samira; Bannwarth, Sylvie; Rouzier, Cécile; Cochaud, Charlotte; Paquis-Flucklinger, Véronique Journal: Biological research Issue: Volume 49:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes. Issue 3 (March 2021) Authors: Lytrivi, Maria; Senée, Valérie; Salpea, Paraskevi; Fantuzzi, Federica; Philippi, Anne; Abdulkarim, Baroj; Sawatani, Toshiaki; Marín-Cañas, Sandra; Pachera, Nathalie; Degavre, Anne; Singh, Pratibha; Derbois, Céline; Lechner, Doris; Ladrière, Laurence; Igoillo-Esteve, Mariana; Cosentino, Cristina; ... Journal: European journal of endocrinology Issue: Volume 184:Issue 3(2021) Page Start: 455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. Issue 10 (28th October 2018) Authors: Bacquet, Juliette; Stojkovic, Tanya; Boyer, Amandine; Martini, Nathalie; Audic, Frédérique; Chabrol, Brigitte; Salort-Campana, Emmanuelle; Delmont, Emilien; Desvignes, Jean-Pierre; Verschueren, Annie; Attarian, Shahram; Chaussenot, Annabelle; Delague, Valérie; Levy, Nicolas; Bonello-Palot, Nathalie Journal: BMJ open Issue: Volume 8:Issue 10(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations. Issue 6 (14th January 2020) Authors: Bergametti, Françoise; Viot, Geraldine; Verny, Christophe; Brechard, Marie Pierre; Denier, Christian; Labauge, Pierre; Petit, Paul; Nouet, Aurélien; Viallet, François; Chaussenot, Annabelle; Hervé, Dominique; Tournier-Lasserve, Elisabeth; Riant, Florence Journal: Journal of medical genetics Issue: Volume 57:Issue 6(2020) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9‐deficient mild myopathy. Issue 6 (26th March 2017) Authors: Fragaki, Konstantina; Chaussenot, Annabelle; Boutron, Audrey; Bannwarth, Sylvie; Cochaud, Charlotte; Richelme, Christian; Sacconi, Sabrina; Paquis‐Flucklinger, Veronique Journal: Muscle & nerve Issue: Volume 55:Issue 6(2017) Page Start: 919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases. Issue 8 (12th June 2020) Authors: Zereg, Elamine; Chaussenot, Annabelle; Morel, Godelieve; Bannwarth, Sylvie; Sacconi, Sabrina; Soriani, Marie‐Hélène; Attarian, Shahram; Cano, Aline; Pouget, Jean; Bellance, Rémi; Tranchant, Christine; Lannes, Béatrice; de Paula, André Maues; Saadi Ait‐El‐Mkadem, Samira; Chafino, Bernadette; Berth... Journal: Human mutation Issue: Volume 41:Issue 8(2020) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. Issue 8 (28th March 2019) Authors: Schluth-Bolard, Caroline; Diguet, Flavie; Chatron, Nicolas; Rollat-Farnier, Pierre-Antoine; Bardel, Claire; Afenjar, Alexandra; Amblard, Florence; Amiel, Jeanne; Blesson, Sophie; Callier, Patrick; Capri, Yline; Collignon, Patrick; Cordier, Marie-Pierre; Coubes, Christine; Demeer, Benedicte; Chaus... Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Wolfram syndrome associated with leukoencephalopathy. Issue 8 (3rd August 2010) Authors: Labauge, Pierre; Renard, Dimitri; Chaussenot, Annabelle; Paquis-Flucklinger, Veronique Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 8(2010) Page Start: 928 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗