Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Daniela Zahorakova"'
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Akademický článek
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.
Autor: Ondrej Fiala, Daniela Zahorakova, Lenka Pospisilova, Jana Kucerova, Milada Matejckova, Pavel Martasek, Jan Roth, Evzen Ruzicka
Publikováno v: PLoS ONE, Vol 9, Iss 9, p e107585 (2014)
The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls.A total of 70 early-onset Parkinson's disease patients (age at onset ≤40 years) and 75 controls wer
Externí odkaz: https://doaj.org/article/6b09b001459a4690b5eb3e8e33acb793
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2
Diagnostic exome sequencing in early-onset Parkinson's disease confirmsVPS13Cas a rare cause of autosomal-recessive Parkinson's disease
Autor: Jan Roth, Daniela Zahorakova, Ondřej Fiala, Juliane Winkelmann, Riccardo Berutti, Barbara Schormair, G. Machetanz, Pavel Martásek, B. Haslinger, B. Mollenhauer, David Kemlink, Evzen Ruzicka, Tim M. Strom, Claudia Trenkwalder
Publikováno v: Clinical Genetics. 93:603-612
Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative disease genes are discovered constantly. Therefore, whole-exome sequencing could be an efficient approach to genetic testing in PD. To evaluate its performance in early
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d50dad181bf6aeac0ce27935afc5132
https://doi.org/10.1111/cge.13124
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4
Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases
Autor: J. Mašková, Radan Brůha, Daniela Zahorakova, Petr Dusek, Evžen Růžička, Andrea Burgetova, Ondřej Fiala, Olga Ulmanová, Matěj Slovák, David Školoudík, Tereza Serranová
Publikováno v: Parkinsonism & Related Disorders. 28:87-93
Wilson's disease (WD) is a hereditary disorder caused by ATP7B mutations resulting in systemic copper accumulation. WD may manifest as early-adulthood parkinsonism; and atypical cases may be difficult to distinguish from early-onset Parkinson's disea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337ad6d6bc0516f95541bb091d616006
https://doi.org/10.1016/j.parkreldis.2016.04.031
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5
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning
Autor: Jiri Zeman, Pavel Martásek, Vladimir Gregor, Daniela Zahorakova, Petra Lelkova, Martin Magner
Publikováno v: Journal of Human Genetics. 61:617-625
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by developmental regression with loss of motor, communication and social skills, onset of stereotypic hand movements and often seizures. RTT is primarily caused by de novo m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544101416e07089048424754711f6d3d
https://doi.org/10.1038/jhg.2016.19
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6
APOE ε4: A Potential Modulation Factor in Rett Syndrome
Autor: Daniela Zahorakova, Pavel Martásek, David Kemlink, A. Baxova, Marie Jáchymová
Publikováno v: Journal of Child Neurology. 25:546-550
Rett syndrome is a neurodevelopmental disorder mainly caused by de novo mutations in the MECP2 (methyl-CpG-binding protein 2) gene. There is considerable variation in the severity of clinical features among Rett syndrome patients, even among patients
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729797c7c8134f5b7cc07f764a59c965
https://doi.org/10.1177/0883073809346848
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7
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
Autor: Alena Zumrova, Jan Hadac, Nadezda Misovicova, Daniela Zahorakova, A. Baxova, Jiri Zeman, Pavel Martásek, R. Rosipal, Vladimir Bzduch
Publikováno v: Journal of Human Genetics. 52:342-348
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Here we report mutation analysis of the MECP2 gene in 87 patients with RTT from
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4936e95fc9d1158096f6226ca8728b53
https://doi.org/10.1007/s10038-007-0121-x
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8
Genetics of Metal Disorders (Excluding NBIA)
Autor: Daniela Zahorakova, Petr Dusek
Publikováno v: Movement Disorder Genetics ISBN: 9783319172224
In this chapter, we describe genetic movement disorders arising from endogenous dysregulation of calcium, copper, and manganese homeostasis. In general, dysregulation of metal homeostasis may lead to regional brain metal accumulation, systemic metal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d8a64e8d2389458c704f719f23fcafc
https://doi.org/10.1007/978-3-319-17223-1_14
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9
Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
Autor: Milada Matejckova, Pavel Martásek, Jana Kucerova, Lenka Pospisilova, Daniela Zahorakova, Evzen Ruzicka, Jan Roth, Ondrej Fiala
Publikováno v: PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e107585 (2014)
Objective The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. Methods A total of 70 early-onset Parkinson's disease patients (age at onset ≤40 years)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f79ff060c885f50f77b313d2a9b0e7
http://europepmc.org/articles/PMC4169530
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