Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Anna-Karin Kroksmark"'
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-10 (2021)
Abstract Introduction Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking. Here
Externí odkaz:
https://doaj.org/article/7eeef99fcc6b4c85a7b4e24eb1e55195
Autor:
Nathalie M Goemans, Már Tulinius, Marleen van den Hauwe, Anna-Karin Kroksmark, Gunnar Buyse, Rosamund J Wilson, Judith C van Deutekom, Sjef J de Kimpe, Afrodite Lourbakos, Giles Campion
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0161955 (2016)
BackgroundDrisapersen induces exon 51 skipping during dystrophin pre-mRNA splicing and allows synthesis of partially functional dystrophin in Duchenne muscular dystrophy (DMD) patients with amenable mutations.MethodsThis 188-week open-label extension
Externí odkaz:
https://doaj.org/article/3e55aff068e14473843a4a30a61a1672
Publikováno v:
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.
The aim of this study was to describe behavioral strengths and difficulties in relation to intellectual function and age in boys with DMD. In a cross-sectional design, 70 boys with DMD were tested at 5, 8, 11, and 14 years of age (mean age 10y 5 m).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba0f5f450b43ad8ad5b85b34064addc
https://pubmed.ncbi.nlm.nih.gov/36444135
https://pubmed.ncbi.nlm.nih.gov/36444135
Publikováno v:
BMC Musculoskeletal Disorders
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-10 (2021)
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-10 (2021)
Introduction Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking. Here we prese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a53896928b973670f54e8ebf766c6b
http://europepmc.org/articles/PMC8485550
http://europepmc.org/articles/PMC8485550
Autor:
Kevin Rostasy, Eva Michael, Mar Tulinius, Kaj Blennow, Bob Olsson, Lars Alberg, Anna-Karin Kroksmark, Nicholas C. Cullen, Lisa Wahlgren, Henrik Zetterberg
Publikováno v:
Journal of Neurology
Background Recently, the anti-sense oligonucleotide drug nusinersen was approved for spinal muscular atrophy (SMA) and our aim was to find a response marker for this treatment. Methods Twelve children with SMA type 1 and two copies of the SMN2 gene w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1adf6c645abb5baab2a1edfe6191dedb
https://doi.org/10.1007/s00415-019-09389-8
https://doi.org/10.1007/s00415-019-09389-8
Publikováno v:
European journal of epidemiology. 37(2)
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder with increasing life expectancy from late teens to over 30 years of age. The aim of this nationwide study was to explore the prevalence, life expectancy and leading causes of death
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53541a89028562213bcc0a83b80e0174
https://pubmed.ncbi.nlm.nih.gov/34802091
https://pubmed.ncbi.nlm.nih.gov/34802091
Publikováno v:
Neuromuscular Disorders. 31:S82-S83
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1823573d34219a04f09e202b0e2786cc
https://doi.org/10.1016/j.nmd.2021.07.136
https://doi.org/10.1016/j.nmd.2021.07.136
Publikováno v:
Prosthetics & Orthotics International. 42:402-409
Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking.To describe health-related quality of life in children with arthrogryposis multiplex congeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c3b3c08ae42090ab283b2fbabee8b8d
https://doi.org/10.1177/0309364618774059
https://doi.org/10.1177/0309364618774059
Autor:
Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Danilo Tiziano, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Elena Mazzone, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz
Publikováno v:
Neuromuscular Disorders. 28:103-115
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060448e3bce86a13394ec584cb841ce1
https://doi.org/10.1016/j.nmd.2017.11.005
https://doi.org/10.1016/j.nmd.2017.11.005
Publikováno v:
Disability and Rehabilitation. 40:2824-2832
The purpose of this study was to evaluate whether treatment of boys with Duchenne muscular dystrophy using hand orthoses could benefit joint mobility, grip strength, or fine motor function.Eight boys with Duchenne muscular dystrophy were provided wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d5f4cee9e44607f18bd58e772778d2
https://doi.org/10.1080/09638288.2017.1347721
https://doi.org/10.1080/09638288.2017.1347721