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Quantitative Analysis of Relationship Between Hypokinetic Dysarthria and the Freezing of Gait in Parkinson's Disease.
Mekyska J, Galaz Z, Kiska T, Zvoncak V, Mucha J, Smekal Z, Eliasova I, Kostalova M, Mrackova M, Fiedorova D, Faundez-Zanuy M, Solé-Casals J, Gomez-Vilda P, Rektorova I. Mekyska J, et al. Among authors: mucha j. Cognit Comput. 2018;10(6):1006-1018. doi: 10.1007/s12559-018-9575-8. Epub 2018 Jun 27. Cognit Comput. 2018. PMID: 30595758 Free PMC article.
Comparison of CNN-Learned vs. Handcrafted Features for Detection of Parkinson's Disease Dysgraphia in a Multilingual Dataset.
Galaz Z, Drotar P, Mekyska J, Gazda M, Mucha J, Zvoncak V, Smekal Z, Faundez-Zanuy M, Castrillon R, Orozco-Arroyave JR, Rapcsak S, Kincses T, Brabenec L, Rektorova I. Galaz Z, et al. Among authors: mucha j. Front Neuroinform. 2022 May 30;16:877139. doi: 10.3389/fninf.2022.877139. eCollection 2022. Front Neuroinform. 2022. PMID: 35722168 Free PMC article.
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P. Ziburová J, et al. Among authors: mucha j. Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 1. Am J Med Genet A. 2021. PMID: 34467644 Free PMC article.
Inherited metabolic disorders of glycoconjugate metabolism.
Pakanova Z, Nemcovic M, Ziburova J, Mucha J, Salingova A, Sebova C, Jurickova K, Barath P. Pakanova Z, et al. Among authors: mucha j. Bratisl Lek Listy. 2020;121(10):760-766. doi: 10.4149/BLL_2020_124. Bratisl Lek Listy. 2020. PMID: 32955910 Review.
Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.
Lekka DE, Brucknerova J, Salingova A, Sebova C, Ostrozlikova M, Ziburova J, Nemcovic M, Sestak S, Bellova J, Pakanova Z, Sivakova B, Skoknova M, Bzduch V, Mucha J, Barath P, Brucknerova I. Lekka DE, et al. Among authors: mucha j. Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030. Bratisl Lek Listy. 2021. PMID: 33618527
158 results