Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Matt Parton"'
Autor:
Robert Muni-Lofra, Lindsay B. Murphy, Kate Adcock, Maria E. Farrugia, Joseph Irwin, James B. Lilleker, John McConville, Andria Merrison, Matt Parton, Liz Ryburn, Mariacristina Scoto, Chiara Marini-Bettolo, Anna Mayhew
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Spinal Muscular Atrophy (SMA) is characterized by muscle atrophy and weakness and has an incidence of 1:11. 000 live births which projects an estimated population in the UK of 650–1,300 affected patients. Standards of Care (SoC) were updated in 201
Externí odkaz:
https://doaj.org/article/a9f7abf93e734fd8b66d6c2902924e3d
Autor:
Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Objective: Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application.Methods: We retrospectively au
Externí odkaz:
https://doaj.org/article/b013af293d04400baa9bebe4a7695ad7
Autor:
Alexander M. Rossor, Matt Parton, David S. Lynch, Michael G. Hanna, Enrico Bugiardini, Qiang Gang, Andrea Cortese, Jasper M. Morrow, Lucy Feng, Ros Quinlivan, Janice L. Holton, Aisling Carr, Alaa Khan, Alan Pittman, Mary M. Reilly, Rahul Phadke, Chris Turner, Julian Blake, Henry Houlden, Emma Matthews
Publikováno v:
Neuromuscular Disorders. 29:747-757
Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused exome sequencing to investigate a cohort of 100 complex adult myopathy cases who remained u
Autor:
David Hilton-Jones, Damian Kozyra, Pedro Machado, Michael G. Hanna, Jane Freebody, L. Germain, Gina Sangha, Matt Parton, I Skorupinska, Bohao Yao, James Miller, Daniel Lunn
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry.
ObjectiveTo describe decline in muscle strength and physical function in patients with sporadic inclusion body myositis (IBM).MethodsManual muscle testing (MMT), quantitative muscle testing (QMT) and disability scoring using the IBM Functional Rating
Autor:
M. Henderson, Wojtek Rakowicz, Silvia Marino, Curtis Offiah, Anna Sarkozy, Hanns Lochmüller, Simon Hammans, Marta Bertoli, Adnan Y. Manzur, Lucy Feng, Silvia Torelli, Francesco Muntoni, Tracey Willis, Chiara Marini-Bettolo, Fiona Norwood, Volker Straub, Rita Barresi, Maria Elena Farrugia, David Beeson, Maria Sframeli, Pierpaolo Ala, Elizabeth Wraige, Rahul Phadke, Aleksandar Radunovic, Caroline Sewry, Mark Walker, Kate Bushby, R. Mein, Godwin Mamutse, Sujit S. Vaidya, M. Yau, Matt Parton
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 89:762-768
BackgroundDefects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with phenotypes ranging from congenital muscular dystrophies to milder limb girdle muscular dystrophies
Autor:
Germán, Morís, Libby, Wood, Roberto, FernáNdez-Torrón, José Andrés, González Coraspe, Chris, Turner, David, Hilton-Jones, Fiona, Norwood, Tracey, Willis, Matt, Parton, Mark, Rogers, Simon, Hammans, Mark, Roberts, Elizabeth, Househam, Maggie, Williams, Hanns, Lochmüller, Teresinha, Evangelista
Publikováno v:
Muscle & Nerve
Introduction Earlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics and impact of pain on quality of l
Autor:
Matt Parton, Wei Wei Liu, Maryam Sedghi, Andrew M. Schaefer, Maria Elena Farrugia, Katsiaryna Belaya, Susan Maxwell, Jacqueline Palace, Hanns Lochmüller, Simon J. McGowan, Keivan Basiri, Anna Sarkozy, Wyatt W. Yue, Kate Bushby, Matthew Pitt, David Beeson, Richard E. Petty, Timothy J. Walls, Pedro M. Rodríguez Cruz, Marta Bertoli, Robin Kennett, Francesco Muntoni
Publikováno v:
Brain
Congenital myasthenic syndromes are associated with impairments in neuromuscular transmission. Belaya et al. show that mutations of the glycosylation pathway enzyme GMPPB, which has previously been implicated in muscular dystrophy dystroglycanopathy,
Publikováno v:
Clinical Practice. 11:623-637
Inclusion body myositis (IBM) is the commonest acquired myopathy in individuals aged over 50 years. The first description of a patient with IBM was published in 1967. Despite much research into the illness, our understanding is far from complete and
Autor:
Michael G. Hanna, Caroline Sewry, Matt Parton, Janice L. Holton, Elizabeth Curtis, David Beeson, Qiang Gang, Ros Quinlivan, Stefen Brady, Safa Al-Sarraj, Saiju Jacob, Estelle Healy, Henry Houlden
Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ac7547c7977e2d71ad59fae7426882
https://ora.ox.ac.uk/objects/uuid:f6fba2c8-6255-4532-8e7a-e07c2a1386e1
https://ora.ox.ac.uk/objects/uuid:f6fba2c8-6255-4532-8e7a-e07c2a1386e1
Autor:
Anna, Sarkozy, Silvia, Torelli, Rachael, Mein, Matt, Henderson, Rahul, Phadke, Lucy, Feng, Caroline, Sewry, Pierpaolo, Ala, Michael, Yau, Marta, Bertoli, Tracey, Willis, Simon, Hammans, Adnan, Manzur, Maria, Sframeli, Fiona, Norwood, Wojtek, Rakowicz, Aleksandar, Radunovic, Sujit S, Vaidya, Matt, Parton, Mark, Walker, Silvia, Marino, Curtis, Offiah, Maria Elena, Farrugia, Godwin, Mamutse, Chiara, Marini-Bettolo, Elizabeth, Wraige, David, Beeson, Hanns, Lochmüller, Volker, Straub, Kate, Bushby, Rita, Barresi, Francesco, Muntoni
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 89(7)
Defects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with phenotypes ranging from congenital muscular dystrophies to milder limb girdle muscular dystrophies. Patients