Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Sarah A. Cumming"'
Autor:
Renée H.L. Raaijmakers, C. Rosanne M. Ausems, Marieke Willemse, Sarah A. Cumming, Baziel G.M. van Engelen, Darren G. Monckton, Hans van Bokhoven, Derick G. Wansink
Publikováno v:
Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Background Cell-based strategies are being explored as a therapeutic option for muscular dystrophies, using a variety of cell types from different origin and with different characteristics. Primary pericytes are multifunctional cells found i
Externí odkaz:
https://doaj.org/article/d2979695721748088df787f7fc2a6289
Autor:
Timothy R. Koscik, Ellen van der Plas, Laurie Gutmann, Sarah A. Cumming, Darren G. Monckton, Vincent Magnotta, Richard K. Shields, Peggy C. Nopoulos
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Deficits in white matter (WM) integrity and motor symptoms are among the most robust and reproducible features of myotonic dystrophy type 1 (DM1). In the present study, we investigate whether WM integrity, obtained from diffusion-weighted MR
Externí odkaz:
https://doaj.org/article/0e5a87339ef14fe0b3a871680f6a4da9
Autor:
Ellen van der Plas, Jeffrey D. Long, Timothy R. Koscik, Vincent Magnotta, Darren G. Monckton, Sarah A. Cumming, Amy C. Gottschalk, Marco Hefti, Laurie Gutmann, Peggy C. Nopoulos
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
IntroductionThe present study had four aims. First, neuronal injury markers, including neurofilament light (NF-L), total tau, glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase (UCH-L1), were compared between individuals with a
Externí odkaz:
https://doaj.org/article/009018d5ab65499fb8768c4ab0e95700
Autor:
Jacob N. Miller, Alison Kruger, David J. Moser, Laurie Gutmann, Ellen van der Plas, Timothy R. Koscik, Sarah A. Cumming, Darren G. Monckton, Peggy C. Nopoulos
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral. Here we evaluated
Externí odkaz:
https://doaj.org/article/e471c06bf36444afb72579129c838841
Autor:
Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton
Publikováno v:
EBioMedicine, Vol 48, Iss , Pp 568-580 (2019)
Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CA
Externí odkaz:
https://doaj.org/article/e8c098c00c394408a8d5c2c5d49ab489
Autor:
Emma Bunting, Jasmine Donaldson, Jessica Olive, Holly Kordasiewicz, Frank Bennett, Sarah A Cumming, Darren G Monckton, Michael Flower, Sarah J Tabrizi
Publikováno v:
I: Experimental therapeutics – preclinical.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::604e394122092d5fce756bf132258db0
https://doi.org/10.1136/jnnp-2022-ehdn.227
https://doi.org/10.1136/jnnp-2022-ehdn.227
Autor:
Seung Kwak, Sarah A. Cumming, Darren G. Monckton, Ricardo Mouro Pinto, Graham Hamilton, A. Jennifer Morton, Eloise Larson, Vanessa C. Wheeler, William Tottey, Marc Ciosi, Afroditi Chatzi, Vilija Lomeikaite
Publikováno v:
Journal of Huntington's Disease
Background:\ud Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit ≥36 repeats and longer alleles cause earlier onset, greater disease severity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4135c47bd75f6b3caba1c15107217c3b
http://europepmc.org/articles/PMC7990409
http://europepmc.org/articles/PMC7990409
Autor:
Mark J Hamilton, Antonio Atalaia, John McLean, Sarah A Cumming, Jonathan J Evans, Bob Ballantyne, Ravi Jampana, null The Scottish Myotonic Dystrophy Consortium, Cheryl Longman, Eric Livingston, Ellen van der Plas, Timothy Koscik, Peggy Nopoulos, Maria Elena Farrugia, Darren G Monckton
Abnormalities of sleep are common in myotonic dystrophy type 1 (DM1), but few previous studies have combined polysomnography with detailed clinical measures and brain imaging. In the present study, domiciliary polysomnography, symptom questionnaires
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f0a178e24b62956d43749b245884b4
https://eprints.gla.ac.uk/265295/1/265295.pdf
https://eprints.gla.ac.uk/265295/1/265295.pdf
Autor:
Grainne S. Gorman, Ingemar S. J. Merkies, Sarah A. Cumming, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, Catharina G. Faber, Darren G. Monckton, Erik Landfeldt, Hanns Lochmüller, Chris Turner
Publikováno v:
Acta Neurologica Scandinavica, 141(5), 380-387. Wiley
Objectives:\ud The objective of this cross‐sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1).\ud \ud Materials and Methods:\ud Adults with genetically confir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ad4ee5c209bfd245b8c1c55d334c71
https://doi.org/10.1111/ane.13215
https://doi.org/10.1111/ane.13215
Autor:
Erik Landfeldt, Sarah A. Cumming, Chris Turner, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, Grainne S. Gorman, Hanns Lochmüller, Darren G. Monckton
Publikováno v:
Journal of Neurology
Objective:\ud \ud The objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder.\ud Methods:\ud \ud Adults with DM1 were recruited as part of the Pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab4b26a2e3ad8430b6c44b313378c1d2
http://europepmc.org/articles/PMC6420885
http://europepmc.org/articles/PMC6420885