Zobrazeno 1 - 10
of 1 245
pro vyhledávání: '"Michael A. Hanna"'
Autor:
Jasper M. Morrow, Sachit Shah, Lara Cristiano, Matthew R. B. Evans, Carolynne M. Doherty, Talal Alnaemi, Abeer Saab, Ahmed Emira, Uros Klickovic, Ahmed Hammam, Afnan Altuwaijri, Stephen Wastling, Mary M. Reilly, Michael G. Hanna, Tarek A. Yousry, John S. Thornton
Publikováno v:
European Radiology Experimental, Vol 8, Iss 1, Pp 1-12 (2024)
Abstract Background Magnetic resonance imaging (MRI) quantification of intramuscular fat accumulation is a responsive biomarker in neuromuscular diseases. Despite emergence of automated methods, manual muscle segmentation remains an essential foundat
Externí odkaz:
https://doaj.org/article/29a6b7777ec4436dbf62ecd5e9df90c4
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
Autor:
Rajinder Bhardwaj, Michael S. Hanna, Beth A. Morris, Kyle T. Matschke, Richard Bertz, Robert S. Croop, Jing Liu
Publikováno v:
Clinical and Translational Science, Vol 17, Iss 3, Pp n/a-n/a (2024)
Abstract A single‐center, phase I, partially double‐blind (double‐blind regarding doses of rimegepant and placebo, and open label with respect to moxifloxacin), randomized, 12‐sequence, four‐period crossover study of therapeutic (75 mg) and
Externí odkaz:
https://doaj.org/article/b30d7f9d6f584fa8a3848a5c2e88b521
Autor:
Elizabeth M.C. Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo Arozena
Publikováno v:
Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Amyotrophic lateral sclerosis is a complex disorder most of which is ‘sporadic’ of unknown origin but approximately 10% is familial, arising from single mutations in any of more than 30 genes. Thus, there are more than 30 familial ALS su
Externí odkaz:
https://doaj.org/article/2784edf2a2f94fa4952e10a07c064167
Autor:
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidi
Externí odkaz:
https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14
Autor:
William Kasberg, Peter Luong, Michael G. Hanna, Kayla Minushkin, Annabelle Tsao, Raakhee Shankar, Samuel Block, Anjon Audhya
Publikováno v:
Cell Reports, Vol 42, Iss 6, Pp 112635- (2023)
Summary: Coat protein complex II (COPII) plays an integral role in the packaging of secretory cargoes within membrane-enclosed transport carriers that leave the endoplasmic reticulum (ER) from discrete subdomains. Lipid bilayer remodeling necessary f
Externí odkaz:
https://doaj.org/article/f52889c7fb184429a32bc105b971be31
Autor:
Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini
Publikováno v:
Biomolecules, Vol 13, Iss 11, p 1567 (2023)
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. In
Externí odkaz:
https://doaj.org/article/4ceed51d35294359b85fc944f493cbbf
Autor:
Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-mai Julie Dang, Lodovica Vergani, Iain G. Johnston, Robert D. S. Pitceathly, Robert McFarland, Michael G. Hanna, Robert W. Taylor, Ian J. Holt, Antonella Spinazzola
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
It has been a longstanding goal to promote the propagation of functional mitochondrial DNAs at the expense of pathological molecules in cells where the two species coexist. Here, the authors show that restricting the availability of glucose and gluta
Externí odkaz:
https://doaj.org/article/ddb6e0fbdcc044759f368cb2f07e6239
Autor:
Enrico Bugiardini, Andreia M. Nunes, Ariany Oliveira‐Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza‐Flores, Alan M. Pittman, Jasper M. Morrow, Matthew Parton, Henry Houlden, Perry M. Elliott, Petros Syrris, Roderick P. Maas, Mohammed M. Akhtar, Benno Küsters, Joost Raaphorst, Meyke Schouten, Erik‐Jan Kamsteeg, Baziel van Engelen, Michael G. Hanna, Rahul Phadke, Luis R. Lopes, Emma Matthews, Dean J. Burkin
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 23 (2022)
Background Integrin α7β1 is a major laminin receptor in skeletal and cardiac muscle. In skeletal muscle, integrin α7β1 plays an important role during muscle development and has been described as an important modifier of skeletal muscle diseases.
Externí odkaz:
https://doaj.org/article/350a26baecc8491eac3c63f5cd504fe7
Autor:
Karen J. Suetterlin, S. Veronica Tan, Roope Mannikko, Rahul Phadke, Michael Orford, Simon Eaton, Avan A. Sayer, Miranda D. Grounds, Emma Matthews, Linda Greensmith, Michael G. Hanna
Publikováno v:
JCSM Rapid Communications, Vol 4, Iss 2, Pp 245-259 (2021)
Abstract Background Periodic paralysis (PP) is a rare genetic disorder in which ion channel mutation causes episodic paralysis in association with hyper‐ or hypokalaemia. An unexplained but consistent feature of PP is that a phenotype transition oc
Externí odkaz:
https://doaj.org/article/095c8b12e3ca40519d819e710adadda7