A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

por Baty, Karen, Farrugia, Maria E., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Stewart, William, Willison, Hugh J., Reilly, Mary M., Blakely, Emma L., Taylor, Robert W., Ng, Yi Shiau
Publicado 2021

Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK

por Muni-Lofra, Robert, Murphy, Lindsay B., Adcock, Kate, Farrugia, Maria E., Irwin, Joseph, Lilleker, James B., McConville, John, Merrison, Andria, Parton, Matt, Ryburn, Liz, Scoto, Mariacristina, Marini-Bettolo, Chiara, Mayhew, Anna
Publicado 2022

Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects

por Lim, Albert Zishen, Jones, Daniel M, Bates, Matthew G D, Schaefer, Andrew M, O'Sullivan, John, Feeney, Catherine, Farrugia, Maria E, Bourke, John P, Turnbull, Doug M, Gorman, Gráinne S, McFarland, Robert, Ng, Yi Shiau
Publicado 2021

COVID-19-associated risks and effects in myasthenia gravis (CARE-MG)

por Muppidi, Srikanth, Guptill, Jeffrey T, Jacob, Saiju, Li, Yingkai, Farrugia, Maria E, Guidon, Amanda C, Tavee, Jinny O, Kaminski, Henry, Howard, James F, Cutter, Gary, Wiendl, Heinz, Maas, Matthew B, Illa, Isabel, Mantegazza, Renato, Murai, Hiroyuki, Utsugisawa, Kimiaki, Nowak, Richard J
Publicado 2020

Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

por Hamilton, Mark J., Robb, Yvonne, Cumming, Sarah, Gregory, Helen, Duncan, Alexis, Rahman, Monika, McKeown, Anne, McWilliam, Catherine, Dean, John, Wilcox, Alison, Farrugia, Maria E., Cooper, Anneli, McGhie, Josephine, Adam, Berit, Petty, Richard, Longman, Cheryl, Findlay, Iain, Japp, Alan, Monckton, Darren G., Denvir, Martin A.
Publicado 2017

Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up st...

por Hamilton, Mark J., Robb, Yvonne, Cumming, Sarah, Gregory, Helen, Duncan, Alexis, Rahman, Monika, McKeown, Anne, McWilliam, Catherine, Dean, John, Wilcox, Alison, Farrugia, Maria E., Cooper, Anneli, McGhie, Josephine, Adam, Berit, Petty, Richard, Longman, Cheryl, Findlay, Iain, Japp, Alan, Monckton, Darren G., Denvir, Martin A.
Publicado 2017

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

por Belaya, Katsiaryna, Rodríguez Cruz, Pedro M., Liu, Wei Wei, Maxwell, Susan, McGowan, Simon, Farrugia, Maria E., Petty, Richard, Walls, Timothy J., Sedghi, Maryam, Basiri, Keivan, Yue, Wyatt W., Sarkozy, Anna, Bertoli, Marta, Pitt, Matthew, Kennett, Robin, Schaefer, Andrew, Bushby, Kate, Parton, Matt, Lochmüller, Hanns, Palace, Jacqueline, Muntoni, Francesco, Beeson, David
Publicado 2015