Molecular genetics lab in the University Hospital of Nîmes, performing molecular diagnosis of ALS since 2007. We participate to the French national network on ALS (FILSLAN).
We currently develop research aiming at establishing in vivo models for functional studies of gene variants identified in ALS.
| Department of Biochemistry and Molecular Biology, University Hospital Nîmes | |
|---|---|
| Foundation year | 2007 |
| Director | Pr. Serge Lumbroso |
| Principal investigator | Dr. Kevin Mouzat, Pr. S. Lumbroso |
| Contact information | |
|---|---|
| Address | CHU Nimes |
| Contact | Serge Lumbroso |
| Phone | +33 4 66 68 32 07 |
| serge.lumbroso@umontpellier.fr | |
Publications
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D’Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.
Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027. - Liver X Receptor Genes Variants Modulate ALS Phenotype. Mouzat K, Molinari N, Kantar J, Polge A, Corcia P, Couratier P, Clavelou P, Juntas-Morales R, Pageot N, Lobaccaro J-A, Raoul C, Lumbroso S, Camu W. Mol Neurobiol. 2018 Mar;55(3):1959-1965. doi: 10.1007/s12035-017-0453-2. Epub 2017 Feb 27.
- Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation. Taieb G, Polge A, Juntas-Morales R, Pageot N, Lumbroso S, Mouzat K, Camu W. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):296-297. doi: 10.1080/21678421.2016.1255756. Epub 2016 Nov 28.
- Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis? Mouzat K, Raoul C, Polge A, Kantar J, Camu W, Lumbroso S. Cell Mol Life Sci. 2016 Oct;73(20):3801-8. doi: 10.1007/s00018-016-2330-y. Epub 2016 Aug 10. Review.
- A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C. J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4.
Restricted information
| Patient resources | |
|---|---|
| Population based register | No |
| Clinic based register | Yes |
| Geographically matched controls | Yes |
Banks
| Type | ALS Patients | Controls | Other |
|---|---|---|---|
| DNA Bank | 1000 | 400 | |
| Serum Bank | 0 | 0 | |
| RNA Bank | 0 | 0 |
| Research activities | |
|---|---|
| Clinical management research | No |
| Neuro epidemiology | No |
| Neuro physiology | No |
| Neuro imaging | No |
| Neuro psychology | No |
| Neuro pathology | No |
| Genomics | Yes |
| Transcriptomics | No |
| Metabolomics | No |
Clinical Trials - Industry sponsored
There are no clinical trials for this centre
Clinical Trials - Investigator initiated
There are no clinical trials for this centre