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Page 1
Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.
Delorme C, Pégat A, Theuriet J, Brandel JP, Roze E, Viala K, Zyss J, Thobois S, Fourier A, Bernard E, Svahn J, Laurencin C, Jaulent P, Vandendries C, Quadrio I, Desestret V, Meyronet D, Maisonobe T, Haïk S, Seilhean D. Delorme C, et al. Among authors: roze e. Ann Clin Transl Neurol. 2025 Jan 12. doi: 10.1002/acn3.52296. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 39799963 Free article.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Among authors: roze e. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Shukla AAW, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Thomsen M, et al. Among authors: roze e. medRxiv [Preprint]. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741. medRxiv. 2024. PMID: 39677454 Free PMC article. Preprint.
IAPRD new consensus classification of myoclonus.
Latorre A, van der Veen S, Pena A, Truong D, Erro R, Frucht S, Ganos C, Hallett M, Perez-Duenas B, Rossi M, Roze E, Vidailhet M, de Koning-Tijssen MA, Caviness JN. Latorre A, et al. Among authors: roze e. Parkinsonism Relat Disord. 2024 Dec 4:107216. doi: 10.1016/j.parkreldis.2024.107216. Online ahead of print. Parkinsonism Relat Disord. 2024. PMID: 39665962
Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial.
Laurencin C, Poujois A, Bonjour M, Demily C, Klinger H, Roze E, Leclert V, Danaila T, Langlois-Jacques C, Couchonnal E, Woimant F, Obadia MA, Perez G, Pernon M, Blanchet L, Broussolle E, Vidailhet M, Kassai B, Moro E, Karachi C, Polo G, Grabli D, Portefaix A, Thobois S. Laurencin C, et al. Among authors: roze e. Eur J Neurol. 2025 Jan;32(1):e16524. doi: 10.1111/ene.16524. Epub 2024 Oct 29. Eur J Neurol. 2025. PMID: 39468897 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: roze e. Sci Rep. 2024 Sep 27;14(1):22341. doi: 10.1038/s41598-024-73386-9. Sci Rep. 2024. PMID: 39333780 Free PMC article.
379 results