Zobrazeno 1 - 10 of 34 pro vyhledávání: '"Tomasz Kmiec"'
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Akademický článek
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
Autor: Ewa Golanska, Agata Gajos, Monika Sieruta, Malgorzata Szybka, Monika Rudzinska, Stanislaw Ochudlo, Tomasz Kmiec, Pawel P Liberski, Andrzej Bogucki
Publikováno v: PLoS ONE, Vol 10, Iss 6, p e0129656 (2015)
The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 d
Externí odkaz: https://doaj.org/article/293ed659961f4564a2750e132880bd8f
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2
Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I)
Autor: Tomasz Kmiec, Christof Brücke, Anahita Poshtiban, Rafał Rola, S. Siegert, Henryk Koziara, Julius Huebl, Tomasz Mandat, Andrea A. Kühn, Antje Bock
Publikováno v: Clinical Neurophysiology. 130:469-473
Objectives Neurodegeneration with Brain Iron Accumulation type I (NBIA-I) is a rare hereditary neurodegenerative disorder with pallidal degeneration leading to disabling generalized dystonia and parkinsonism. Pallidal or subthalamic deep brain stimul
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0768d2e635ea6a5933903cac9cde0c58
https://doi.org/10.1016/j.clinph.2018.12.012
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3
Pallidal or Subthalamic Deep Brain Stimulation for the Generalized Dystonia Treatment
Autor: Tomasz Kmiec, Henryk Koziara, Bartosz Czapski, Krzysztof Szalecki, Wiesław Bonicki, Bogdan Brodacki, Tomasz M, Bartosz Królicki, Emilia Soltan
Publikováno v: Journal of Neurology & Neurophysiology. 7
One of the most effective treatments of medically refractory generalized dystonia (GD) is pallidal deep brain stimulation (GPi DBS). For selected group of GD patients’ subthalamic deep brain stimulation (STN DBS) might be similarly effective. The a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d19e547616f930b72131ee187d137b03
https://doi.org/10.4172/2155-9562.1000382
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4
Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology
Autor: Cornelis Jakobs, Sergiusz Jozwiak, Marek Kaciński, Eduard A. Struys, Tomasz Kmiec, Gajja S. Salomons, Magdalena Kaczorowska, Sławomir Kroczka
Publikováno v: Journal of Child Neurology, 23(12), 1455-1459. SAGE Publications Inc.
Kaczorowska, M, Kmiec, T, Jakobs, C A J M, Kacinski, M, Kroczka, S, Salomons, G S, Struijs, E A & Jozwiak, S 2008, ' Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology ', Journal of Child Neurology, vol. 23, no. 12, pp. 1455-1459 . https://doi.org/10.1177/0883073808318543
Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e47ea729ef98c2f0fff203b8e81c4a6e
https://doi.org/10.1177/0883073808318543
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5
Homozygote for mutation c.1204 + 1GA of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type
Autor: Agnieszka, Ługowska, Krystyna, Szymańska, Tomasz, Kmiec, Iwona, Tarczyńska, Barbara, Czartoryska, Anna, Tylki-Szymańska, Elzbieta, Jurkiewicz
Publikováno v: Journal of applied genetics. 46(3)
The metachromatic leukodystrophy (MLD)--causing mutation c.1204 + 1GA damages an intron-exon splice site recognition sequence. This results in a complete loss of enzymatic activity of arylsulfatase A (ARSA) protein molecules. We have found a late-inf
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cf4e0629e7ce0779a1c207df911fbe2d
https://pubmed.ncbi.nlm.nih.gov/16110195
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