Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Angela Schüller"'
Publikováno v:
DNP - Der Neurologe und Psychiater. 17:42-50
Myotone Dystrophien sind genetisch bedingte Formen der Muskeldystrophie. Diese konnen in allen Altersstufen auftreten und ausern sich durch muskulare, zerebrale und extramuskulare Symptome. Die Variabilitat der Symptomatik macht eine multimodale Unte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2175e8c16e9469c5d5ed6c953853d632
https://doi.org/10.1007/s15202-016-1039-y
https://doi.org/10.1007/s15202-016-1039-y
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
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
https://doi.org/10.1016/S1474-4422(18)30203-5
Autor:
Benedikt Schoser, Peter Young, Matthias Vorgerd, Zoltan Lukacs, Angela Schüller, Cornelia Kornblum, Dieter Gläser, Marcus Deschauer, Ursula Plöckinger, Eugen Mengel, Bertold Schrank
Publikováno v:
Der Nervenarzt. 84:1467-1472
As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and evidence-based indications for therapy are mandatory. We screened the literature for consensus re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d84fdcd520089f532d9f82628411d00a
https://doi.org/10.1007/s00115-013-3947-9
https://doi.org/10.1007/s00115-013-3947-9
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
https://doi.org/10.1002/ajmg.c.31322