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Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Sorrentino U, Romito LM, Garavaglia B, Fichera M, Colangelo I, Prokisch H, Winkelmann J, Necpal J, Jech R, Zech M. Sorrentino U, et al. Among authors: jech r. Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38617829 Free PMC article. Review.
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Sorrentino U, Boesch S, Doummar D, Ravelli C, Serranova T, Indelicato E, Winkelmann J, Burglen L, Jech R, Zech M. Sorrentino U, et al. Among authors: jech r. J Neurol. 2024 May;271(5):2859-2865. doi: 10.1007/s00415-024-12271-x. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38441608 Free PMC article.
SOXopathies and dystonia: Consolidation of a recurrent association.
Indelicato E, Boesch S, Havrankova P, Příhodová I, Winkelmann J, Jech R, Zech M. Indelicato E, et al. Among authors: jech r. Parkinsonism Relat Disord. 2024 Feb;119:105960. doi: 10.1016/j.parkreldis.2023.105960. Epub 2023 Dec 16. Parkinsonism Relat Disord. 2024. PMID: 38141365 No abstract available.
Central European Group on Genetics of Movement Disorders.
Ostrozovicova M, Dusek P, Grofik M, Han V, Holly P, Jech R, Klivenyi P, Kovacs N, Kulcsarova K, Kurca E, Lackova A, Magocova V, Necpal J, Pinter D, Ruzicka E, Serranova T, Smilowska K, Straka I, Svorenova T, Tamas G, Valkovic P, Zarubova K, Houlden H, Rizig M, Skorvanek M. Ostrozovicova M, et al. Among authors: jech r. Eur J Neurol. 2024 Apr;31(4):e16165. doi: 10.1111/ene.16165. Epub 2023 Dec 7. Eur J Neurol. 2024. PMID: 38059386 No abstract available.
207 results