1. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. Issue 6 (11th August 2014) Authors: Tchikviladzé, Maya; Gilleron, Mylène; Maisonobe, Thierry; Galanaud, Damien; Laforêt, Pascal; Durr, Alexandra; Eymard, Bruno; Mochel, Fanny; Ogier, Hélène; Béhin, Anthony; Stojkovic, Tanya; Degos, Bertrand; Gourfinkel-An, Isabelle; Sedel, Frederic; Anheim, Mathieu; Elbaz, Alexis; Viala, Karine; Vi... Other Names: Lemière Isabelle author non-byline.; Filaut Sandrine author non-byline.; Dubourg Odile author non-byline. Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 6(2015) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 3 (16th March 2017) Authors: Karaa, Amel; Rahman, Shamima; Lombès, Anne; Yu‐Wai‐Man, Patrick; Sheikh, Muniza K.; Alai‐Hansen, Sherita; Cohen, Bruce H.; Dimmock, David; Emrick, Lisa; Falk, Marni J.; McCormack, Shana; Mirsky, David; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 1 (4th October 2017) Authors: Karaa, Amel; Rahman, Shamima; Lombès, Anne; Yu‐Wai‐Man, Patrick; Sheikh, Muniza K.; Alai‐Hansen, Sherita; Cohen, Bruce H.; Dimmock, David; Emrick, Lisa; Falk, Marni J.; McCormack, Shana; Mirsky, David; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13. Issue 3 (16th May 2019) Authors: Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Hab... Journal: Hepatology Issue: Volume 70:Issue 3(2019) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. HIF‐1α induction, proliferation and glycolysis of Theileria‐infected leukocytes. (26th February 2015) Authors: Metheni, Mehdi; Lombès, Anne; Bouillaud, Frédéric; Batteux, Frédéric; Langsley, Gordon Journal: Cellular microbiology Issue: Volume 17:Number 4(2015:Apr.) Page Start: 467 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue. (August 2020) Authors: Auré, Karine; Fayet, Guillemette; Chicherin, Ivan; Rucheton, Benoit; Filaut, Sandrine; Heckel, Anne-Marie; Eichler, Julie; Caillon, Florence; Péréon, Yann; Entelis, Nina; Tarassov, Ivan; Lombès, Anne Journal: Neurology Issue: Volume 6:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases. Issue 3 (26th November 2019) Authors: Papadopoulos, Constantinos; Wahbi, Karim; Behin, Anthony; Bougouin, Wulfran; Stojkovic, Tanya; Leonard‐Louis, Sarah; Berber, Nawal; Lombès, Anne; Duboc, Denis; Jardel, Claude; Eymard, Bruno; Laforêt, Pascal Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 3(2020) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Increased dNTP pools rescue mtDNA depletion in human POLG‐deficient fibroblasts. Issue 6 (8th March 2019) Authors: Blázquez-Bermejo, Cora; Carreño-Gago, Lidia; Molina-Granada, David; Aguirre, Josu; Ramón, Javier; Torres-Torronteras, Javier; Cabrera-Pérez, Raquel; Martin, Miguel Ángel; Domínguez-González, Cristina; de la Cruz, Xavier; Lombès, Anne; García-Arumí, Elena; Martí, Ramon; Cámara, Yolanda Journal: FASEB journal Issue: Volume 33:Issue 6(2019) Page Start: 7168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. (29th July 2015) Authors: Wahbi, Karim; Bougouin, Wulfran; Béhin, Anthony; Stojkovic, Tanya; Bécane, Henri Marc; Jardel, Claude; Berber, Nawal; Mochel, Fanny; Lombès, Anne; Eymard, Bruno; Duboc, Denis; Laforêt, Pascal Journal: European heart journal Issue: Volume 36:Number 42(2015) Page Start: 2886 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. Issue 7 (July 2017) Authors: Gueguen, Antoine; Jardel, Claude; Polivka, Marc; Tan, S. Veronica; Gray, Françoise; Vignal, Catherine; Lombès, Anne; Gout, Olivier; Bostock, Hugh Journal: Clinical neurophysiology Issue: Volume 128:Issue 7(2017:Jul.) Page Start: 1258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗