Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Biruta, Kierdaszuk"'
Autor:
Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes a
Externí odkaz:
https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8
Publikováno v:
Folia Neuropathologica, Vol 60, Iss 3, Pp 277-283 (2022)
This short overview recalls the basic principles and technical aspects of skin and skeletal muscle biopsies in humans with paying special attention to the stages of these procedures essential for further correct morphological diagnosis. Some of these
Externí odkaz:
https://doaj.org/article/c2375b5987474786bd1b4bc34e8477a9
Autor:
Biruta Kierdaszuk, Olga Zdończyk, Mateusz Jermakow, Piotr Bienias, Agnieszka Miroszewska, Anna Kostera-Pruszczyk, Magdalena Kaliszewska, Anna Maria Gawałkiewicz, Marta Jaworska, Piotr Pruszczyk
Publikováno v:
Journal of Electrocardiology. 65:136-142
There is limited data on cardiac arrhythmias and ventricular repolarization and dispersion abnormalities in patients with mitochondrial diseases (MitD).Consecutive 40 patients with genetically proven MitD and 35 healthy controls were studied. Among o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa372fad812a396615978b537055356
https://doi.org/10.1016/j.jelectrocard.2021.01.021
https://doi.org/10.1016/j.jelectrocard.2021.01.021
Publikováno v:
Neurologia i Neurochirurgia Polska. 55:325-327
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e25548505d08625a61379483b88603d9
https://doi.org/10.5603/pjnns.a2021.0018
https://doi.org/10.5603/pjnns.a2021.0018
Publikováno v:
Folia Cardiologica. 15:122-129
Mitochondrial diseases (MD) are a heterogeneous group of rare genetically determined disorders, characterized by mitochondrial respiratory chain defect and subsequent energy metabolism imbalance. Due to almost exclusive aerobic metabolism of the hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6fe32628ad2b3b4dae76190803f844c
https://doi.org/10.5603/fc.2020.0020
https://doi.org/10.5603/fc.2020.0020
Autor:
Biruta Kierdaszuk, Anna Kostera-Pruszczyk, Miłosz Jastrzębski, Marta Lipowska, Anna Łusakowska, Aleksandra Jastrzębska, Anna Potulska-Chromik, Anna Kamińska
Publikováno v:
Acta Neurologica Scandinavica. 140:239-243
OBJECTIVES We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia. MATERIALS AND METHODS Patients with limb-girdle muscle weakness, pers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a96c46828960b42652f1ea1167996d
https://doi.org/10.1111/ane.13133
https://doi.org/10.1111/ane.13133
Autor:
Jakub Piotr Fichna, Anna Potulska-Chromik, Cezary Zekanowski, Maria Jędrzejowska, Biruta Kierdaszuk, Andrzej Opuchlik, Edyta Rosiak, Aleksandra Maruszak, Monika Gos
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 914, p 914 (2021)
Journal of Clinical Medicine
Volume 10
Issue 5
Journal of Clinical Medicine
Volume 10
Issue 5
Myofibrillar myopathies (MFM) are heterogeneous hereditary muscle diseases with characteristic myopathological features of Z-disk dissolution and aggregates of its degradation products. The onset and progression of the disease are variable, with an e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f34ee7a5111498bfb30f1bbc11de622
https://www.mdpi.com/2077-0383/10/5/914
https://www.mdpi.com/2077-0383/10/5/914
Autor:
Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska
Publikováno v:
Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)
Mitochondrial encephalomyopathies comprise a group of heterogeneous disorders resulting from impaired oxidative phosphorylation (OxPhos). Among a variety of symptoms progressive external ophthalmoplegia (PEO) seems to be the most common. The aim of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0
Autor:
Zygmunt Jamrozik, Grzegorz Rosiak, Biruta Kierdaszuk, Krzysztof Milczarek, Anna Kamińska, Dorota Dziewulska, Antoni Krzeski
Publikováno v:
Case Reports in Neurological Medicine, Vol 2013 (2013)
Intraosseous lipoma is very rare, usually benign tumor of flat bones. However, the localization in skull bones is described in sporadic cases. The differential diagnosis includes end stage of infection, infarct lesions, intraosseous meningioma, angio
Externí odkaz:
https://doaj.org/article/738385a9880c4c60a1d61cf11c175391
Autor:
Biruta Kierdaszuk, Dorota Dziewulska
Publikováno v:
Clinical Neuropathology. 37:283-287
AIMS Familial hemiplegic migraine type 1 (FHM1) due to mutations in the CACNA1A gene is known as functional vascular disorder with cerebellar atrophy. We describe a case of a FHM1 family in which pathological changes occurred in both brain neuroimagi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d51d2a6250a345c867f60b264f76c4d4
https://doi.org/10.5414/np300619
https://doi.org/10.5414/np300619