TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study

Autor: Katrin A. Bangel, Albert Z. Lim, Alasdair Blain, Yi Shiau Ng, Amy Winder, Joseph Bulmer, Grainne Gorman, Mark Baker, Robert McFarland

Publikováno v: BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

Abstract Background Focal epilepsy is common in children and adults with mitochondrial disease. Seizures are often refractory to pharmacological treatment and, in this patient group, frequently evolve to refractory focal status epilepticus (also know

Externí odkaz: https://doaj.org/article/75cefdcaf5114d3abac37f9dc9294184

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Autor: Kees Okkersen, Cecilia Jimenez-Moreno, Stephan Wenninger, Ferroudja Daidj, Jeffrey Glennon, Sarah Cumming, Roberta Littleford, Darren G Monckton, Hanns Lochmüller, Michael Catt, Catharina G Faber, Adrian Hapca, Peter T Donnan, Gráinne Gorman, Guillaume Bassez, Benedikt Schoser, Hans Knoop, Shaun Treweek, Baziel G M van Engelen, Marie Kierkegaard, Darren Monckton, Catharina Faber, Peter Donnan, Baziel van Engelen, Daphne Maas, Stephanie Nikolaus, Yvonne Cornelissen, Marlies van Nimwegen, Ellen Klerks, Sacha Bouman, Linda Heskamp, Arend Heerschap, Ridho Rahmadi, Perry Groot, Tom Heskes, Katarzyna Kapusta, Shaghayegh Abghari, Armaz Aschrafi, Geert Poelmans, Joost Raaphorst, Michael Trenell, Sandra van Laar, Libby Wood, Sophie Cassidy, Jane Newman, Sarah Charman, Renae Steffaneti, Louise Taylor, Allan Brownrigg, Sharon Day, Antonio Atalaya, Fiona Hogarth, Angela Schüller, Kristina Stahl, Heike Künzel, Martin Wolf, Anna Jelinek, Baptiste Lignier, Florence Couppey, Stéphanie Delmas, Jean-François Deux, Karolina Hankiewicz, Celine Dogan, Lisa Minier, Pascale Chevalier, Amira Hamadouche, Berit Adam, Michael Hannah, Emma McKenzie, Petra Rauchhaus, Vincent Van Hees, Sharon Catt, Ameli Schwalber, Ingemar Merkies, Juliane Dittrich

Publikováno v: Lancet Neurology, 17, 671-680
Lancet neurology, 17(8), 671-680. Lancet Publishing Group
Lancet Neurology, 17, 8, pp. 671-680
Lancet Neurology, 17(8), 671-680. Elsevier Science

Background: \ud Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults and leads to severe fatigue, substantial physical functional impairment, and restricted social participation. In this study, we aimed to determine wheth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d6c0dd11bb724ca61b2edfa09e7325
https://doi.org/10.1016/S1474-4422(18)30203-5

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Autor: Demetris Koutalianos, Andrie Koutsoulidou, Chrystalla Mytidou, Andrea C. Kakouri, Anastasis Oulas, Marios Tomazou, Tassos C. Kyriakides, Marianna Prokopi, Konstantinos Kapnisis, Nikoletta Nikolenko, Chris Turner, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, George M. Spyrou, Geneviève Gourdon, Eleni Zamba Papanicolaou, Grainne Gorman, Andreas Anayiotos, Hanns Lochmüller, Leonidas A. Phylactou

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 169-183 (2021)

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field that aim to improve patients�

Externí odkaz: https://doaj.org/article/0df8908873d4446eb6c45e3b522382e8