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

Toward deconstructing the phenotype of late-onset Pompe disease

Autor: Stephan Wenninger, Angela Schüller, N. Strigl-Pill, Benedikt Schoser

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :80-88

Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d87e7ed34b5e216266ad91df5a03de
https://doi.org/10.1002/ajmg.c.31322

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.

Autor: Flower, Michael, Lomeikaite, Vilija, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Moss, Davina Hensman, Jones, Lesley, Holmans, Peter, Monckton, Darren G, Tabrizi, Sarah J, Investigators, TRACK-HD, Consortium, OPTIMISTIC, Hensman Moss, Davina, TRACK-HD Investigators, OPTIMISTIC Consortium

Publikováno v: Brain: A Journal of Neurology; Jul2019, Vol. 142 Issue 7, p1876-1886, 11p