Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Julia R, Dahlqvist"'
Autor:
Alexander P. Murphy, Jasper Morrow, Julia R. Dahlqvist, Tanya Stojkovic, Tracey A. Willis, Christopher D. J. Sinclair, Stephen Wastling, Tarek Yousry, Michael S. Hanna, Meredith K. James, Anna Mayhew, Michelle Eagle, Laurence E. Lee, Jean‐Yves Hogrel, Pierre G. Carlier, John S. Thornton, John Vissing, Kieren G. Hollingsworth, Volker Straub
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1033-1045 (2019)
Abstract Objective Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical t
Externí odkaz:
https://doaj.org/article/8b6e15b896ea41baaac336a6d6cf25b8
Autor:
Sofie Thurø Østergaard, John Vissing, Julia R. Dahlqvist, Freja Fornander, Else R. Danielsen, Carsten Thomsen, Josefine de Stricker Borch, Nanna S. Poulsen
Publikováno v:
Neurology. 95:e1211-e1221
ObjectiveWe followed up patients with facioscapulohumeral muscular dystrophy (FSHD) with sequential examinations over 2 years to investigate whether inflammatory lesions always precede fat replacement, if inflammation can be resolved without muscle d
Publikováno v:
Annals of Neurology. 88:669-681
There is an unmet need to identify biomarkers sensitive to change in rare, slowly progressive neuromuscular diseases. Quantitative magnetic resonance imaging (MRI) of muscle may offer this opportunity, as it is noninvasive and can be carried out almo
Autor:
Ruth Salim, Konni Kass, Karoline Lolk Revsbech, Josefine de Stricker Borch, Tahmina Khawajazada, John Vissing, Aisha Munawar Sheikh, Julia R. Dahlqvist
Publikováno v:
Journal of Neurology. 267:2432-2442
Using MRI, the main aim was to (1) map the pattern of muscle involvement by assessing fat fraction and (2) investigate frequency of target and sandwich signs in 42 muscles of patients with Bethlem myopathy (BM). Fifteen BM patients were included. Res
Publikováno v:
Neurology. 92:e548-e559
ObjectiveTo investigate the phenotypic features, with emphasis on muscle, in 40 patients with spinobulbar muscular atrophy (SBMA) using quantitative MRI, stationary dynamometry, questionnaires, and functional tests.MethodsPatients with genetically co
Autor:
Julia R. Dahlqvist, John Vissing, Sofie T. Oestergaard, Freja Fornander, Josefine de Stricker Borch, Nanna S. Poulsen
Publikováno v:
Annals of Neurology. 84:754-765
OBJECTIVE Spinal and bulbar muscular atrophy (SBMA) is a slowly progressive disease with weakness of bulbar and extremity muscles. There is no curative treatment for the disease, but several clinical trials have been conducted over the past years. Th
Autor:
Freja Fornander, Julia R. Dahlqvist, Morten Duno, Nanna S. Poulsen, Tuva Åsatun Solheim, Anne-Sofie Vibæk Eisum, John Vissing, Annarita Ghosh Andersen
Publikováno v:
Fornander, F, Solheim, T Å, Eisum, A-S V, Poulsen, N S, Andersen, A G, Dahlqvist, J R, Dunø, M & Vissing, J 2021, ' Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants ', Frontiers in Neurology, vol. 12, 707837 . https://doi.org/10.3389/fneur.2021.707837
Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
Objective: To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic DMD variant, we prospectively examined 53 women, assuming that some of these women—despite of the recessive X-linked inheritance—
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa3d968b02dfcbec194d9fcc0b64ff0
https://curis.ku.dk/portal/da/publications/quantitative-muscle-mri-and-clinical-findings-in-women-with-pathogenic-dystrophin-gene-variants(f54fa49e-7a0c-4142-9add-a9f4d458a623).html
https://curis.ku.dk/portal/da/publications/quantitative-muscle-mri-and-clinical-findings-in-women-with-pathogenic-dystrophin-gene-variants(f54fa49e-7a0c-4142-9add-a9f4d458a623).html
Publikováno v:
Dahlqvist, J R, Salim, R, Thomsen, C & Vissing, J 2020, ' A quantitative method to assess muscle edema using short TI inversion recovery MRI ', Scientific Reports, vol. 10, no. 1, 7246 . https://doi.org/10.1038/s41598-020-64287-8
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Muscle inflammation is an important component of disease pathophysiology in several muscular dystrophies. Hyperintensities on MRI sequences with short TI inversion recovery (STIR) reflect edema, or inflammation (STIR+). Conventionally, STIR evaluatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63e72e8ac95c5ac04f0aafa5521684c
https://curis.ku.dk/ws/files/260751063/s41598_020_64287_8.pdf
https://curis.ku.dk/ws/files/260751063/s41598_020_64287_8.pdf
Autor:
Thomas Krag, Carinne Roudaut, John Vissing, Julia R. Dahlqvist, Morten Duno, Isabelle Richard, Jerome Poupiot
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (9), pp.1507-1513. ⟨10.1002/humu.24066⟩
Human Mutation, 2020, 41 (9), pp.1507-1513. ⟨10.1002/humu.24066⟩
Human Mutation, Wiley, 2020, 41 (9), pp.1507-1513. ⟨10.1002/humu.24066⟩
Human Mutation, 2020, 41 (9), pp.1507-1513. ⟨10.1002/humu.24066⟩
Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43-year-old proband, his father and two so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56efd39c6d2f1d6148c8ff9d003b0702
https://hal-univ-evry.archives-ouvertes.fr/hal-03335781v2/document
https://hal-univ-evry.archives-ouvertes.fr/hal-03335781v2/document
Autor:
Julia R. Dahlqvist, Freja Fornander, John Vissing, Nanna Witting, Annarita Ghosh Andersen, Nanna S. Poulsen, Anne-Sofie Vibæk Eisum, Linda Kahr Andersen
Publikováno v:
Neuromuscular disorders : NMD. 30(8)
The ratio between muscle strength and muscle cross-sectional area is called the specific force. Fatty replacement of muscles is seen in many myopathies, affecting the specific force, without necessarily affecting the ability of the remaining muscle f