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Page 1
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: degos b. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Blepharospasm as a new feature of cerebrotendinous xanthomatosis.
Lagarde J, Sedel F, Degos B. Lagarde J, et al. Among authors: degos b. Parkinsonism Relat Disord. 2013 Aug;19(8):764-5. doi: 10.1016/j.parkreldis.2013.04.003. Epub 2013 Apr 25. Parkinsonism Relat Disord. 2013. PMID: 23623195 No abstract available.
Dystonia treatment: Patterns of medication use in an international cohort.
Pirio Richardson S, Wegele AR, Skipper B, Deligtisch A, Jinnah HA; Dystonia Coalition Investigators. Pirio Richardson S, et al. Neurology. 2017 Feb 7;88(6):543-550. doi: 10.1212/WNL.0000000000003596. Epub 2017 Jan 11. Neurology. 2017. PMID: 28077492 Free PMC article.
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. Alazami AM, et al. Among authors: degos b. Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x. Clin Genet. 2010. PMID: 20507343
147 results