These authors contributed equally to this work.
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction†
Article first published online: 9 SEP 2011
© 2011 Wiley-Liss, Inc.
Volume 32, Issue 10, pages 1118–1127, October 2011
How to Cite
Goizet, C., Depienne, C., Benard, G., Boukhris, A., Mundwiller, E., Solé, G., Coupry, I., Pilliod, J., Martin-Négrier, M.-L., Fedirko, E., Forlani, S., Cazeneuve, C., Hannequin, D., Charles, P., Feki, I., Pinel, J.-F., Ouvrard-Hernandez, A.-M., Lyonnet, S., Ollagnon-Roman, E., Yaouanq, J., Toutain, A., Dussert, C., Fontaine, B., Leguern, E., Lacombe, D., Durr, A., Rossignol, R., Brice, A. and Stevanin, G. (2011), REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum. Mutat., 32: 1118–1127. doi: 10.1002/humu.21542
Communicated by Hamish Scott
- Issue published online: 19 SEP 2011
- Article first published online: 9 SEP 2011
- Accepted manuscript online: 26 MAY 2011 01:51PM EST
- Manuscript Accepted: 17 MAY 2011
- Manuscript Received: 28 DEC 2010
- Programme Hospitalier de Recherche Clinique (to A.D.)
- The E-Rare program of the European Union and the French National Agency for Research (to the EUROSPA consortium)
- The Verum Foundation; The Association contre les Maladies Mitochondriales
- Centre Hospitalier Universitaire de Bordeaux to (C.G.)
- French Association Strumpell-Lorrain fellowship (to A.Bo.)
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