Response of plasma microRNAs to nusinersen treatment in patients with SMA

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

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

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

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

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

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

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

Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.

Autor: Lilien, Charlotte^1,2 (AUTHOR), Reyngoudt, Harmen^1,3 (AUTHOR), Seferian, Andreea Mihaela¹ (AUTHOR), Gidaro, Teresa¹ (AUTHOR), Annoussamy, Mélanie^1,4 (AUTHOR), Chê, Virginie¹ (AUTHOR), Decostre, Valérie¹ (AUTHOR), Ledoux, Isabelle¹ (AUTHOR), Le Louër, Julien^1,3 (AUTHOR), Guemas, Eric⁵ (AUTHOR), Muntoni, Francesco^6,7 (AUTHOR), Hogrel, Jean‐Yves¹ (AUTHOR), Carlier, Pierre Georges^1,8 (AUTHOR), Servais, Laurent^1,2,9 (AUTHOR) laurent.servais@paediatrics.ox.ac.uk

Publikováno v: Annals of Clinical & Translational Neurology. Oct2021, Vol. 8 Issue 10, p1938-1950. 13p.