Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Karolina Aragon‐Gawinska"'
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:
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1011-1026 (2022)
Abstract Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response. We investigated mic
Externí odkaz:
https://doaj.org/article/25ab80b6bfc14c54bc1d6bd5ae1ab5ca
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
Autor:
Andrzej Seroka, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Kamińska, Dagmara Kabzińska, Karolina Aragon-Gawinska, Marta Lipowska, Barbara Ryniewicz
Publikováno v:
Journal of the Peripheral Nervous System. 21:22-26
Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) needs to be differentiated from hereditary neuropathy. We aimed to validate existing CIDP nerve conduction study (NCS) criteria in a group of children with demyelinating neuropathies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7c72c0b730fc32c02e7082e7d63ad7e
https://doi.org/10.1111/jns.12152
https://doi.org/10.1111/jns.12152
Publikováno v:
Child Neurology. 25:73-77
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95245767e6da3153d763e1930768d99e
https://doi.org/10.20966/chn.2016.50.367
https://doi.org/10.20966/chn.2016.50.367
Autor:
Juliette Ropars, Karolina Aragon-Gawinska, Andreea Mihaela Seferian, Jessica Taytard, Laurent Servais, Jerome Rambaud, Carole Vuillerot, Chiara Marini-Bettolo, Teresa Gidaro, Claude Cances, M. Annoussamy, Mariacristina Scoto, Mondher Chouchane, Inge Cuppen, A. Daron, E. Gargaun, Imelda Hughes, Marjorie Illingworth
Publikováno v:
Neurology. 91(14)
ObjectiveTo evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1).MethodsPatients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b5cd40ff0e39d1c68ff856c153414d
https://pubmed.ncbi.nlm.nih.gov/30158155
https://pubmed.ncbi.nlm.nih.gov/30158155
Autor:
Imelda Hughes, A. Daron, Karen L. White, Chiara Marini-Bettolo, Teresa Gidaro, Ana Ulinici, Andreea Mihaela Seferian, M. Chouchane, Mariacristina Scoto, M. Annoussamy, Juliette Ropars, L. Vanden Brande, M. Illingworth, Z. Balintova, I. Cuppen, L. Servais, Claude Cances, Nicolas Deconinck, S. Modrzejewska, Carole Vuillerot, Karolina Aragon-Gawinska
Publikováno v:
Neuromuscular Disorders. 28:S78-S79
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e899642344d353460177fd66788a733d
https://doi.org/10.1016/j.nmd.2018.06.195
https://doi.org/10.1016/j.nmd.2018.06.195
Autor:
Anna, Potulska-Chromik, Barbara, Ryniewicz, Karolina, Aragon-Gawinska, Dagmara, Kabzinska, Andrzej, Seroka, Marta, Lipowska, Anna M, Kaminska, Anna, Kostera-Pruszczyk
Publikováno v:
Journal of the peripheral nervous system : JPNS. 21(1)
Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) needs to be differentiated from hereditary neuropathy. We aimed to validate existing CIDP nerve conduction study (NCS) criteria in a group of children with demyelinating neuropathies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5ce9c60b294d451c8aa60df847e744e
https://pubmed.ncbi.nlm.nih.gov/27251939
https://pubmed.ncbi.nlm.nih.gov/27251939