Որոնման արդյունքները - Berit Adam
- Ցուցադրվում են 1 - 4 արդյունքները 4
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1
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity Fernando Morales, Jillian M. Couto, Catherine F. Higham, Grant Hogg, Patricia Cuenca, Claudia Braida, Richard H. Wilson, Berit Adam, Gerardo Del Valle, Roberto Brian, Mauricio Sittenfeld, Tetsuo Ashizawa, Alison Wilcox, D.E. Wilcox, Darren G. Monckton
Հրապարակվել է 2012Artigo -
2
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... Claudia Braida, Rhoda Stefanatos, Berit Adam, Navdeep Mahajan, H.J.M. Smeets, Florence Niel, Cyril Goizet, Benoı̂t Arveiler, Michel Kœnig, Clotilde Lagier‐Tourenne, Jean‐Louis Mandel, Catharina G. Faber, Christine de Die‐Smulders, Frank Spaans, Darren G. Monckton
Հրապարակվել է 2010Artigo -
3
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 Sarah A. Cumming, Mark Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam, Anneli Cooper, Berit Adam, Josephine McGhie, Graham Hamilton, Pawel Herzyk, Michael Tschannen, Elizabeth A. Worthey, Richard Petty, Bob Ballantyne, Jon Warner, Maria Elena Farrugia, Cheryl Longman, Darren G. Monckton
Հրապարակվել է 2018Artigo -
4
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial Kees Okkersen, Cecilia Jimenez‐Moreno, Stephan Wenninger, Ferroudja Daidj, Jeffrey Glennon, Sarah A. Cumming, Roberta Littleford, Darren G. Monckton, Hanns Lochmüller, Michael Catt, Catharina G. Faber, Adrian Hapca, Peter T. Donnan, Gráinne S. Gorman, Guillaume Bassez, Benedikt Schoser, Hans Knoop, Shaun Treweek, Baziel G.M. van Engelen, Marie Kierkegaard, Kees Okkersen, Cecilia Jimenez‐Moreno, Stephan Wenninger, Ferroudja Daidj, Jeffrey Glennon, Sarah A. Cumming, Roberta Littleford, Darren G. Monckton, Hanns Lochmüller, Michael Catt, Catharina G. Faber, Adrian Hapca, Peter T. Donnan, Gráinne S. Gorman, Guillaume Bassez, Benedikt Schoser, Hans Knoop, Shaun Treweek, Baziel G.M. van Engelen, Daphne Maas, Stephanie Nikolaus, Yvonne Cornelissen, Marlies van Nimwegen, Ellen Klerks, Sacha Bouman, Linda Heskamp, Arend Heerschap, Ridho Rahmadi, P. Groot, Tom Heskes, Katarzyna Kapusta, Shaghayegh Abghari, Armaz Aschrafi, Geert Poelmans, Joost Raaphorst, Michael I. Trenell, Sandra van Laar, Libby Wood, Sophie Cassidy, Jane Newman, Sarah J. Charman, Renae Steffaneti, Louise Taylor, Allan Brownrigg, Sharon Day, Antonio Atalaya, Fiona Hogarth, Angela Schüller, Kristina Ståhl, Heike Künzel, Martin Wolf, Anna Jelinek, Baptiste Lignier, Florence Couppey, Stéphanie Delmas, Jean‐François Deux, Karolina Hankiewicz, Céline Dogan, Lisa Minier, Pascale Chevalier, Amira Hamadouche, Berit Adam, Michael Hannah, Emma McKenzie, Petra Rauchhaus, Vincent T. van Hees, Michael Catt, Ameli Schwalber, Ingemar S. J. Merkies, Juliane Dittrich
Հրապարակվել է 2018Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Myotonic dystrophy
Allele
Biology
Gene
Genetics
Trinucleotide repeat expansion
Internal medicine
Medicine
Myotonia
Age of onset
DNA
DNA damage
Disease
Environmental health
Genome
Genome instability
Genotype
Haploinsufficiency
Locus (genetics)
Microsatellite
Microsatellite instability
Phenotype
Physical medicine and rehabilitation
Physical therapy
Population
Randomized controlled trial
Somatic cell
Tandem repeat