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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: castrioto a. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: castrioto a. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Méreaux JL, Davoine CS, Coutelier M, Guillot-Noël L, Castrioto A, Charles P, Coarelli G, Ewenczyk C, Klebe S, Heinzmann A, Méneret A, Fauret-Amsellem AL, de Sainte Agathe JM, Brice A, Durr A. Méreaux JL, et al. Among authors: castrioto a. J Med Genet. 2023 Jul;60(7):717-721. doi: 10.1136/jmg-2022-108924. Epub 2023 Jan 4. J Med Genet. 2023. PMID: 36599645
French guidelines for the diagnosis and management of Tourette syndrome.
Hartmann A, Ansquer S, Brefel-Courbon C, Burbaud P, Castrioto A, Czernecki V, Damier P, Deniau E, Drapier S, Jalenques I, Marechal O, Priou T, Spodenkiewicz M, Thobois S, Roubertie A, Witjas T, Anheim M. Hartmann A, et al. Among authors: castrioto a. Rev Neurol (Paris). 2024 May 16:S0035-3787(24)00524-1. doi: 10.1016/j.neurol.2024.04.005. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38760282
Amantadine use in the French prospective NS-Park cohort.
Fabbri M, Rousseau V, Corvol JC, Sommet A, Tubach F, De Rycke Y, Bertille N, Selvarasa Y, Carvalho S, Chaigneau V, Brefel-Courbon C, Ory-Magne F, Tessier S, Tir M, Bereau M, Meissner WG, Thiriez C, Marques A, Remy P, Schneider V, Moro E, Defebvre L, Houeto JL, Prange S, Eusebio A, Geny C, Frismand S, Damier P, Reuther CG, Castelnovo G, Benatru I, De Maindreville AD, Drapier S, Maltête D, Lagha-Boukbiza O, Rascol O; French N. S.-Park network. Fabbri M, et al. J Neural Transm (Vienna). 2024 Apr 5. doi: 10.1007/s00702-024-02772-4. Online ahead of print. J Neural Transm (Vienna). 2024. PMID: 38578434
Prognosis of impulse control disorders in Parkinson's disease: a prospective controlled study.
Wirth T, Goetsch T, Corvol JC, Roze E, Mariani LL, Vidailhet M, Grabli D, Mallet L, Pelissolo A, Rascol O, Brefel-Courbon C, Ory-Magne F, Arbus C, Bekadar S, Krystkowiak P, Marques A, Llorca M, Krack P, Castrioto A, Fraix V, Maltete D, Defebvre L, Kreisler A, Houeto JL, Tranchant C, Meyer N, Anheim M. Wirth T, et al. Among authors: castrioto a. J Neurol. 2024 May;271(5):2412-2422. doi: 10.1007/s00415-023-12170-7. Epub 2024 Jan 12. J Neurol. 2024. PMID: 38214756
Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson's disease.
Béreau M, Castrioto A, Servant M, Lhommée E, Desmarets M, Bichon A, Pélissier P, Schmitt E, Klinger H, Longato N, Phillipps C, Wirth T, Fraix V, Benatru I, Durif F, Azulay JP, Moro E, Broussolle E, Thobois S, Tranchant C, Krack P, Anheim M. Béreau M, et al. Among authors: castrioto a. Sci Rep. 2023 Dec 1;13(1):21234. doi: 10.1038/s41598-023-48188-0. Sci Rep. 2023. PMID: 38040775 Free PMC article.
81 results