Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Anna, Potulska"'
Publikováno v:
Applied Sciences, Vol 14, Iss 23, p 11085 (2024)
This study involved performing tests to detect Parkinson’s disease (PD) based on voice changes, including speech phonation, articulation, and prosody, in patients with PD using different types of speech signal. For this purpose, during the first st
Externí odkaz:
https://doaj.org/article/3b832baa8edb4d1abab236c9e67ec41e
Autor:
Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA typ
Externí odkaz:
https://doaj.org/article/caba915b35344630ab47436ccc08a777
Autor:
Jacek Jakubowski, Anna Potulska-Chromik, Jolanta Chmielińska, Monika Nojszewska, Anna Kostera-Pruszczyk
Publikováno v:
Bulletin of the Polish Academy of Sciences: Technical Sciences, Vol 71, Iss 2 (2023)
Finger tapping is one of the standard tests for Parkinson's disease diagnosis performed to assess the motor function of patients' upper limbs. In clinical practice, the assessment of the patient's ability to perform the test is carried out visually a
Externí odkaz:
https://doaj.org/article/ad3957b8f1354bf6a8428fc78b595ae7
Autor:
Małgorzata Łukawska, Anna Potulska-Chromik, Marta Lipowska, Dorota Hoffman-Zacharska, Beata Olchowik, Magdalena Figlerowicz, Karolina Kanabus, Edyta Rosiak, Anna Kostera-Pruszczyk
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Externí odkaz:
https://doaj.org/article/155442a6133a4994bb511fc4f017b414
Autor:
Kalina Andrysiak, Alicja Martyniak, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Jacek Stępniewski, Józef Dulak
Publikováno v:
Stem Cell Research, Vol 57, Iss , Pp 102563- (2021)
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease caused by mutations inSMN1 gene encoding survival motor neuron (SMN) protein. Lack of this protein leads to progressive loss of motor neurons and therefore to gradual loss of signal tra
Externí odkaz:
https://doaj.org/article/7bc2e014b8df4854b25bfcb570300c17
Autor:
Małgorzata Łukawska, Anna Potulska-Chromik, Marta Lipowska, Dorota Hoffman-Zacharska, Beata Olchowik, Magdalena Figlerowicz, Karolina Kanabus, Edyta Rosiak, Anna Kostera-Pruszczyk
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired polyneuropathy that especially among youngest children should be differentiated with hereditary neuropathies. Even though upon diagnosis treatment options are sim
Externí odkaz:
https://doaj.org/article/81c19a58a6cf4a00a0b008a53c63fcf0
Autor:
Ewelina Majda-Zdancewicz, Anna Potulska-Chromik, Jacek Jakubowski, Monika Nojszewska, Anna Kostera-Pruszczyk
Publikováno v:
Bulletin of the Polish Academy of Sciences: Technical Sciences, Vol 69, Iss 3 (2021)
Voice acoustic analysis can be a valuable and objective tool supporting the diagnosis of many neurodegenerative diseases, especially in times of distant medical examination during the pandemic. The article compares the application of selected signal
Externí odkaz:
https://doaj.org/article/fcd3c0e4ee6a4a4e953f8e623f9e819a
Autor:
Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies
Externí odkaz:
https://doaj.org/article/7b793b20033f4da8837130c6461f81e4
Autor:
Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski
Publikováno v:
Human Genomics, Vol 12, Iss 1, Pp 1-12 (2018)
Abstract Background Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases
Externí odkaz:
https://doaj.org/article/678163c3cea44410abb8a209c377c8ed
Autor:
Karolina Aragon-Gawinska, Ivo John, Anna Łusakowska, Anna Frączek, Anna Potulska-Chromik, Anna Kostera-Pruszczyk
Publikováno v:
Polski Przegląd Neurologiczny. 18:120-126
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f33b2b6a6c9439a6150a8776823f75ee
https://doi.org/10.5603/ppn.2022.0016
https://doi.org/10.5603/ppn.2022.0016