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Page 1
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Among authors: robelin l. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C. Montaut S, et al. Among authors: robelin l. J Neurol. 2021 Sep;268(9):3337-3343. doi: 10.1007/s00415-021-10499-5. Epub 2021 Mar 5. J Neurol. 2021. PMID: 33666721
Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis.
Henriques A, Blasco H, Fleury MC, Corcia P, Echaniz-Laguna A, Robelin L, Rudolf G, Lequeu T, Bergaentzle M, Gachet C, Pradat PF, Marchioni E, Andres CR, Tranchant C, Gonzalez De Aguilar JL, Loeffler JP. Henriques A, et al. Among authors: robelin l. PLoS One. 2015 Jul 6;10(7):e0131512. doi: 10.1371/journal.pone.0131512. eCollection 2015. PLoS One. 2015. PMID: 26147510 Free PMC article.
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
Le Gall L, Duddy WJ, Martinat C, Mariot V, Connolly O, Milla V, Anakor E, Ouandaogo ZG, Millecamps S, Lainé J, Vijayakumar UG, Knoblach S, Raoul C, Lucas O, Loeffler JP, Bede P, Behin A, Blasco H, Bruneteau G, Del Mar Amador M, Devos D, Henriques A, Hesters A, Lacomblez L, Laforet P, Langlet T, Leblanc P, Le Forestier N, Maisonobe T, Meininger V, Robelin L, Salachas F, Stojkovic T, Querin G, Dumonceaux J, Butler Browne G, González De Aguilar JL, Duguez S, Pradat PF. Le Gall L, et al. Among authors: robelin l. J Cachexia Sarcopenia Muscle. 2022 Apr;13(2):1385-1402. doi: 10.1002/jcsm.12945. Epub 2022 Feb 22. J Cachexia Sarcopenia Muscle. 2022. PMID: 35194965 Free PMC article.