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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
Rating Scales for Medication Adherence in Parkinson's Disease: A Systematic Review for Critique and Recommendations.
Tosin MHS, de Oliveira BGRB, Goetz CG, Morisky D, McConvey V, Skorvanek M, Schrag A, Martinez-Martin P, Stebbins GT; members of the International Parkinson and Movement Disorder Society Clinical Outcome Assessments (MDS‐COA) Scientific Evaluation Committee. Tosin MHS, et al. Among authors: skorvanek m. Mov Disord Clin Pract. 2022 Oct 17;10(2):175-189. doi: 10.1002/mdc3.13586. eCollection 2023 Feb. Mov Disord Clin Pract. 2022. PMID: 36825050 Free PMC article. Review.
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.
Exploding head syndrome--a rare parasomnia or a dissociative episode?
Feketeova E, Buskova J, Skorvanek M, Mudra J, Gdovinova Z. Feketeova E, et al. Among authors: skorvanek m. Sleep Med. 2014 Jun;15(6):728-30. doi: 10.1016/j.sleep.2014.02.011. Epub 2014 Apr 13. Sleep Med. 2014. PMID: 24831250 No abstract available.
95 results