1. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Issue 2 (11th November 2019) Authors: Barcia, Giulia; Rio, Marlène; Assouline, Zahra; Zangarelli, Coralie; Gueguen, Naig; Dumas, Valerie D.; Marcorelles, Pascale; Schiff, Manuel; Slama, Abdelhamid; Barth, Magalie; Hully, Marie; de Lonlay, Pascale; Munnich, Arnold; Desguerre, Isabelle; Bonnefont, Jean‐Paul; Steffann, Julie; Procaccio,... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Intranasal administration of progesterone: A potential efficient route of delivery for cerebroprotection after acute brain injuries. (February 2019) Authors: Guennoun, Rachida; Fréchou, Magalie; Gaignard, Pauline; Liere, Philippe; Slama, Abdelhamid; Schumacher, Michael; Denier, Christian; Mattern, Claudia Journal: Neuropharmacology Issue: Volume 145(2019)Part B Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mitochondrial myopathy associated with anti-programmed cell death 1 therapy. (March 2019) Authors: Ibrahim, Tony; Adam, Clovis; Routier, Emilie; Slama, Abdelhamid; Robert, Caroline Journal: European journal of cancer Issue: Volume 110(2019) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Issue 4 (12th March 2011) Authors: Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol;... Journal: Journal of medical genetics Issue: Volume 48:Issue 4(2011) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration. (June 2018) Authors: Muller, Marie; Guillaud-Bataille, Marine; Salleron, Julia; Genestie, Catherine; Deveaux, Sophie; Slama, Abdelhamid; Paillerets, Brigitte; Richard, Stéphane; Benusiglio, Patrick; Ferlicot, Sophie Journal: Modern pathology Issue: Volume 31:Number 6(2018) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Progesterone reduces brain mitochondrial dysfunction after transient focal ischemia in male and female mice. Issue 3 (March 2016) Authors: Gaignard, Pauline; Fréchou, Magalie; Schumacher, Michael; Thérond, Patrice; Mattern, Claudia; Slama, Abdelhamid; Guennoun, Rachida Journal: Journal of cerebral blood flow & metabolism Issue: Volume 36:Issue 3(2016) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗