Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Iwona Stępniak"'
Publikováno v:
Polish Journal of Pathology, Vol 69, Iss 4, Pp 422-431 (2019)
Our studies concerned skeletal muscle biopsy specimens from a patient with clinically suspected MERRF syndrome, confirmed by genetic tests showing the presence of point mutation in the m.8344A> G in the tRNALys gene. Ultrastructurally, extensive dama
Externí odkaz:
https://doaj.org/article/1184fe4e72ae4a29a47bfe3688d09772
Autor:
Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz
Publikováno v:
Polish Journal of Pathology, Vol 68, Iss 2, Pp 173-181 (2017)
Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleo
Externí odkaz:
https://doaj.org/article/9eeddc026cfc4e4096a4244cca42779a
Publikováno v:
Polish Journal of Pathology, Vol 70, Iss 2, Pp 144-145 (2019)
Externí odkaz:
https://doaj.org/article/9f2655bddb504832974eb5e7dc4ed53d
Publikováno v:
Polish Journal of Pathology, Vol 69, Iss 4, Pp 422-431 (2019)
Our studies concerned skeletal muscle biopsy specimens from a patient with clinically suspected MERRF syndrome, confirmed by genetic tests showing the presence of point mutation in the m.8344A> G in the tRNALys gene. Ultrastructurally, extensive dama
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107fdee336d0900b7a338d29091b82f7
https://www.termedia.pl/Pathology-of-skeletal-muscle-fibers-and-small-blood-vessels-in-MERRF-syndrome-an-ultrastructural-study,55,34483,1,1.html
https://www.termedia.pl/Pathology-of-skeletal-muscle-fibers-and-small-blood-vessels-in-MERRF-syndrome-an-ultrastructural-study,55,34483,1,1.html
Autor:
Michał G. Markiewicz, Peter Krawitz, Karolina Rutkowska, Iwona Stępniak, Rafał Płoski, Snir Boniel, Małgorzata Rydzanicz, Aleksandra Jezela-Stanek, Alexej Knaus, Elżbieta Szczepanik, Robert Śmigiel, Hanna Mierzewska
Publikováno v:
Clinical geneticsREFERENCES. 98(5)
PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever-sensitivity, central hypotonia, psychomotor delay and congenital malformations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3616929383be7fd3717cd47458754f
https://pubmed.ncbi.nlm.nih.gov/32725661
https://pubmed.ncbi.nlm.nih.gov/32725661
Publikováno v:
Polish Journal of Pathology, Vol 70, Iss 2, Pp 144-145 (2019)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19e4607d65aecd5898d4f525009cbcd
https://pubmed.ncbi.nlm.nih.gov/31556566
https://pubmed.ncbi.nlm.nih.gov/31556566
Publikováno v:
Genes, Vol 11, Iss 1060, p 1060 (2020)
Genes
Volume 11
Issue 9
Genes
Volume 11
Issue 9
RMND1 (required for meiotic nuclear division 1 homolog) pathogenic variants are known to cause combined oxidative phosphorylation deficiency (COXPD11), a severe multisystem disorder. In one patient, a homozygous RMND1 pathogenic variant, with an esta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db4124a73353467a491df4b4cc1ee5a
https://doi.org/10.3390/genes11091060
https://doi.org/10.3390/genes11091060
Autor:
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 5008 (2024)
The most common form of hereditary spastic paraplegia (HSP), SPG4 is caused by single nucleotide variants and microrearrangements in the SPAST gene. The high percentage of multi-exonic deletions or duplications observed in SPG4 patients is predispose
Externí odkaz:
https://doaj.org/article/6c94afd21f844714b653cf9f9d0e74b8
Autor:
Tomasz Stępień, Agnieszka Pollak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Urszula Lechowicz, Teresa Wierzba-Bobrowicz, Elżbieta Pasennik, Paulina Felczak
Publikováno v:
Polish Journal of Pathology, Vol 68, Iss 2, Pp 173-181 (2017)
Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e8c4e594361471f6a9f84dc061bb4be
https://pubmed.ncbi.nlm.nih.gov/29025253
https://pubmed.ncbi.nlm.nih.gov/29025253
Autor:
Agnieszka Pollak, Michal Lazniewski, Grażyna Tacikowska, Urszula Lechowicz, Krzysztof Kochanek, Tomasz Wolak, Dominika Oziębło, Rafał Płoski, Henryk Skarżyński, Monika Ołdak, Dariusz Plewczynski, Iwona Stępniak, Mariusz Furmanek
Publikováno v:
Journal of Translational Medicine
Background Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7258ba79a00e48ce25e6f7fc50692ff1
https://pubmed.ncbi.nlm.nih.gov/28178980
https://pubmed.ncbi.nlm.nih.gov/28178980