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Page 1
Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia.
Tarrano C, Zito G, Galléa C, Delorme C, McGovern EM, Atkinson-Clement C, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkowiak P, Houeto JL, Degardin A, Defebvre L, Didier M, Valabrègue R, Apartis E, Vidailhet M, Roze E, Worbe Y. Tarrano C, et al. Among authors: pedespan jm. Eur J Neurol. 2024 Dec;31(12):e16460. doi: 10.1111/ene.16460. Epub 2024 Sep 10. Eur J Neurol. 2024. PMID: 39254064 Free PMC article.
Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia.
Tarrano C, Galléa C, Delorme C, McGovern EM, Atkinson-Clement C, Barnham IJ, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkowiak P, Houeto JL, Degardin A, Defebvre L, Valabrègue R, Beranger B, Apartis E, Vidailhet M, Roze E, Worbe Y. Tarrano C, et al. Among authors: pedespan jm. Brain Commun. 2024 Mar 27;6(2):fcae105. doi: 10.1093/braincomms/fcae105. eCollection 2024. Brain Commun. 2024. PMID: 38601915 Free PMC article.
Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.
Tarrano C, Galléa C, Delorme C, McGovern EM, Atkinson-Clement C, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkowiak P, Houeto JL, Degardin A, Defebvre L, Beranger B, Martino D, Apartis E, Vidailhet M, Roze E, Worbe Y. Tarrano C, et al. Among authors: pedespan jm. Sci Rep. 2024 Sep 27;14(1):22341. doi: 10.1038/s41598-024-73386-9. Sci Rep. 2024. PMID: 39333780 Free PMC article.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
Lacombe D, Van-Gils J, Lebrun M, Trimouille A, Michaud V, Cabet S, Chateil JF, Pedespan JM, Bar C, Lesca G. Lacombe D, et al. Among authors: pedespan jm. Brain Dev. 2022 Sep;44(8):567-570. doi: 10.1016/j.braindev.2022.05.001. Epub 2022 May 24. Brain Dev. 2022. PMID: 35623960
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA investigators. Sauter M, et al. Orphanet J Rare Dis. 2021 Jul 6;16(1):301. doi: 10.1186/s13023-021-01917-y. Orphanet J Rare Dis. 2021. PMID: 34229737 Free PMC article.
Tactile Temporal Discrimination Is Impaired in Myoclonus-Dystonia.
Tarrano C, Lamy JC, Delorme C, McGovern EM, Atkinson-Clement C, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkoviak P, Houeto JL, Degardin A, Defebvre L, Apartis E, Vidailhet M, Roze E, Worbe Y. Tarrano C, et al. Among authors: pedespan jm. Mov Disord. 2020 Dec;35(12):2356-2357. doi: 10.1002/mds.28253. Epub 2020 Sep 22. Mov Disord. 2020. PMID: 32960985 No abstract available.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: pedespan jm. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049
Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study.
D'Onofrio G, Kuchenbuch M, Hachon-Le Camus C, Desnous B, Staath V, Napuri S, Ville D, Pedespan JM, Lépine A, Cances C, de Saint-Martin A, Teng T, Chemaly N, Milh M, Villeneuve N, Nabbout R. D'Onofrio G, et al. Among authors: pedespan jm. Front Neurol. 2020 Aug 12;11:829. doi: 10.3389/fneur.2020.00829. eCollection 2020. Front Neurol. 2020. PMID: 32903409 Free PMC article.
115 results