1. ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia. (April 2018) Authors: Marelli, Cecilia; Hamel, Christian; Quiles, Melanie; Carlander, Bertrand; Larrieu, Lise; Delettre, Cecile; Sarzi, Emmanuelle; Chretien, Dominique; Rustin, Pierre; Koenig, Michel; Guissart, Claire Journal: Neurology Issue: Volume 4:Number 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10. (4th October 2018) Authors: Huang, Xiaoping; Wu, Beverly P; Nguyen, Diana; Liu, Yi-Ting; Marani, Melika; Hench, Jürgen; Bénit, Paule; Kozjak-Pavlovic, Vera; Rustin, Pierre; Frank, Stephan; Narendra, Derek P Journal: Human molecular genetics Issue: Volume 28:Number 2(2019) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy. (12th November 2018) Authors: Rashid, Talha; Nemazanyy, Ivan; Paolini, Cecilia; Tatsuta, Takashi; Crespin, Paul; de Villeneuve, Delphine; Brodesser, Susanne; Benit, Paule; Rustin, Pierre; Baraibar, Martin A; Agbulut, Onnik; Olivier, Anne; Protasi, Feliciano; Langer, Thomas; Chrast, Roman; de Lonlay, Pascale; de Foucauld, Hele... Journal: EMBO journal Issue: Volume 38:Number 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗