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Impact of advanced Parkinson's disease on caregivers: an international real-world study.
Martinez-Martin P, Skorvanek M, Henriksen T, Lindvall S, Domingos J, Alobaidi A, Kandukuri PL, Chaudhari VS, Patel AB, Parra JC, Pike J, Antonini A. Martinez-Martin P, et al. Among authors: skorvanek m. J Neurol. 2023 Apr;270(4):2162-2173. doi: 10.1007/s00415-022-11546-5. Epub 2023 Jan 12. J Neurol. 2023. PMID: 36633671 Free PMC article.
Extensive validation study of the Parkinson's Disease Composite Scale.
Martinez-Martin P, Radicati FG, Rodriguez Blazquez C, Wetmore J, Kovacs N, Ray Chaudhuri K, Stocchi F; PDCS European Study Group. Martinez-Martin P, et al. Eur J Neurol. 2019 Oct;26(10):1281-1288. doi: 10.1111/ene.13976. Epub 2019 May 31. Eur J Neurol. 2019. PMID: 31021043
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: skorvanek m. Eur J Neurol. 2024 Apr;31(4):e16165. doi: 10.1111/ene.16165. Epub 2023 Dec 7. Eur J Neurol. 2024. PMID: 38059386 Free PMC article. No abstract available.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R. Dosekova P, et al. Among authors: skorvanek m. Eur J Med Genet. 2020 Apr;63(4):103821. doi: 10.1016/j.ejmg.2019.103821. Epub 2019 Nov 26. Eur J Med Genet. 2020. PMID: 31778857
Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".
Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R. Dosekova P, et al. Among authors: skorvanek m. Eur J Med Genet. 2020 May;63(5):103900. doi: 10.1016/j.ejmg.2020.103900. Epub 2020 Mar 9. Eur J Med Genet. 2020. PMID: 32165262 No abstract available.
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J. Zech M, et al. Among authors: skorvanek m. Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29. Parkinsonism Relat Disord. 2020. PMID: 32629324
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
Pavelekova P, Jech R, Zech M, Krepelova A, Han V, Mosejova A, Liba Z, Urgosik D, Gdovinova Z, Havrankova P, Fecikova A, Winkelmann J, Skorvanek M. Pavelekova P, et al. Among authors: skorvanek m. Parkinsonism Relat Disord. 2021 Feb;83:54-55. doi: 10.1016/j.parkreldis.2020.12.019. Epub 2021 Jan 13. Parkinsonism Relat Disord. 2021. PMID: 33476878
95 results