Zobrazeno 1 - 10
of 152
pro vyhledávání: '"Darren G. Monckton"'
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:
Jessica Dawson, Fiona K. Baine-Savanhu, Marc Ciosi, Alastair Maxwell, Darren G. Monckton, Amanda Krause
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100130- (2022)
Summary: Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predicte
Externí odkaz:
https://doaj.org/article/fb901a877a004aa2917e333a9bf27205
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
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2021)
More than 30 human disorders are caused by the expansion of simple sequence DNA repeats, among which triplet repeats remain the most frequent. Most trinucleotide repeat expansion disorders affect primarily the nervous system, through mechanisms of ne
Externí odkaz:
https://doaj.org/article/e71e2f08af9c4ff787d1cb15096bd0fa
Autor:
Maud van Dorst, Kees Okkersen, Roy P.C. Kessels, Frederick J.A. Meijer, Darren G. Monckton, Baziel G.M. van Engelen, Anil M. Tuladhar, Joost Raaphorst
Publikováno v:
NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)
The myriad of neuropsychiatric manifestations reported in myotonic dystrophy type 1 may have its origin in alterations of complex brain network interactions at the structural level. In this study, we tested the hypothesis that altered white matter mi
Externí odkaz:
https://doaj.org/article/559599ea4bbc415e8ada54c25473ba61
Autor:
Mark J. Hamilton, John McLean, Sarah Cumming, Bob Ballantyne, Josephine McGhie, Ravi Jampana, Cheryl Longman, Jonathan J. Evans, Darren G. Monckton, Maria Elena Farrugia
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Background: Central nervous system involvement in myotonic dystrophy type 1 (DM1) is associated with cognitive deficits, impaired social performance and excessive somnolence, which greatly impact quality of life. With the advent of clinical trials in
Externí odkaz:
https://doaj.org/article/aada2f351c4e4812ab6717ab8ab44d56
Publikováno v:
Neurobiology of Disease, Vol 76, Iss , Pp 98-111 (2015)
The expansion of simple sequence CAG•CTG repeats is associated with a number of inherited disorders including Huntington disease (HD), myotonic dystrophy type 1 and several of the spinocerebellar ataxias. Inherited disease-associated alleles usuall
Externí odkaz:
https://doaj.org/article/043be9119e27436f837bd8958f05ef95