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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. Goizet C, et al. Among authors: tesson c. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Brain. 2009. PMID: 19439420
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Tesson C, et al. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176821 Free PMC article.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: tesson c. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 Free PMC article.
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schöls L, Klopstock T, Brice A, Ishikawa K, Dürr A. Obayashi M, et al. Among authors: tesson c. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):986-95. doi: 10.1136/jnnp-2014-309153. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476002
Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman JM, Sheerin UM; International Parkinson's Disease Consortium (IPDGC); Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J. Giri A, et al. Among authors: tesson c. Neurobiol Aging. 2017 Feb;50:167.e11-167.e13. doi: 10.1016/j.neurobiolaging.2016.10.004. Epub 2016 Oct 11. Neurobiol Aging. 2017. PMID: 27818000 Free PMC article.
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. Coutelier M, et al. Among authors: tesson c. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220
47 results