The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Autor: Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, the Filnemus Myotonic Dystrophy Study Group, Dalil Hamroun, Guillaume Bassez

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)

Abstract Background The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD r

Externí odkaz: https://doaj.org/article/ac011eacc0934331b7b12f39f99c2978

Combien de patients atteints de SMA en France ?

Autor: Ferroudja Daidj, le réseau Filnemus, J. Andoni Urtizberea

Publikováno v: médecine/sciences. 34:32-34

L’épidémiologie des amyotrophies spinales infantiles (ASI ou SMA pour spinal muscular atrophy) reste à faire en France. Bien qu’appartenant aux maladies rares, elle n’en est pas moins fréquente parmi les maladies génétiques de l’enfant.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::be9cfe2446f3bcb208ea94a9624e5ab5
https://doi.org/10.1051/medsci/201834s209

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