Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Mark J. Hamilton"'
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
Autor:
Mark J. Hamilton
Publikováno v:
Sehnsucht: The C. S. Lewis Journal. 4
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Publikováno v:
American journal of medical genetics. Part A. 188(12)
Autor:
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Scottish Myotonic Dystrophy Consortium, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0174166 (2017)
ObjectiveHigh sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1).Methods117 patients with DM1 were r
Externí odkaz:
https://doaj.org/article/d5d3a07f0d044a9eaff8ffc4d1e835f1
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:
Agata Oliwa, Clarissa Hocking, Mark J Hamilton, John McLean, Sarah Cumming, Bob Ballantyne, Ravi Jampana, Cheryl Longman, Darren G Monckton, Maria Elena Farrugia
Publikováno v:
Neuromuscular disorders : NMD.
The advent of clinical trials in myotonic dystrophy type 1 (DM1) necessitates the identification of reliable outcome measures to quantify different disease manifestations using minimal number of assessments. In this study, clinical correlations of me
Autor:
Mark J. Hamilton, Mamie Curley Ure
Publikováno v:
Clinical dysmorphology. 30(4)
Autor:
Laurie Gutmann, Peggy Nopoulos, Jake N. Miller, Mark J. Hamilton, Ellen van der Plas, Darren G. Monckton, Timothy R. Koscik, Sarah A. Cumming
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveWe tested the hypothesis that variant repeat interruptions (RIs) within the DMPK CTG repeat tract lead to milder symptoms compared with pure repeats (PRs) in myotonic dystrophy type 1 (DM1).MethodsWe evaluated motor, neurocognitive, and beha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::484f17fb8f5fabfa8a985573b0faa107
https://eprints.gla.ac.uk/220250/1/220250.pdf
https://eprints.gla.ac.uk/220250/1/220250.pdf
Autor:
Josephine McGhie, Pawel Herzyk, Elizabeth A. Worthey, Bob Ballantyne, Mark J. Hamilton, Richard E. Petty, Anneli Cooper, Sarah A. Cumming, Maria Elena Farrugia, Michael Tschannen, Jon Warner, Catherine McWilliam, Cheryl Longman, Helen Gregory, Darren G. Monckton, Berit Adam, Yvonne Robb, Graham Hamilton
Publikováno v:
European journal of human genetics : EJHG
Myotonic dystrophy type 1 (DM1) is a multisystem disorder, caused by expansion of a CTG trinucleotide repeat in the 3'-untranslated region of the DMPK gene. The repeat expansion is somatically unstable and tends to increase in length with time, contr