Resistance Exercise Training in McArdle Disease: Myth or Reality?

por Pietrusz, Aleksandra, Scalco, Renata S., Quinlivan, Ros
Publicado 2018

Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure

por Chiou, Fang Kuan, Rizvi, Hina, Quinlivan, Ros, Gupte, Girish L.
Publicado 2021

Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre

por Quinlivan, Ros, Desikan, Mahalekshmi, Cruces, Francis, Pietrusz, Aleksandra, Savvatis, Konstantinos
Publicado 2021

Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit

por Willis, Tracey, Roberts, Mark, Hilton-Jones, David, Quinlivan, Ros, Hanna, Mike, Straub, Volker
Publicado 2013

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

por Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C
Publicado 2016

McArdle Disease Misdiagnosed as Meningitis

por Scalco, Renata Siciliani, Chatfield, Sherryl, Junejo, Muhammad Hyder, Booth, Suzanne, Pattni, Jatin, Godfrey, Richard, Quinlivan, Ros
Publicado 2016

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

por Scalco, Renata Siciliani, Lorenzoni, Paulo José, Lynch, David S., Martins, William Alves, Jungbluth, Heinz, Quinlivan, Ros, Becker, Jefferson, Houlden, Henry
Publicado 2017

Rhabdomyolysis: a genetic perspective

por Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros
Publicado 2015

The need for biochemical testing in beta‐enolase deficiency in the genomic era

por Wigley, Ralph, Scalco, Renata S., Gardiner, Alice R., Godfrey, Richard, Booth, Suzanne, Kirk, Richard, Hilton‐Jones, David, Houlden, Henry, Heales, Simon, Quinlivan, Ros
Publicado 2019

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

por Mahroo, Omar A., Khan, Kamron N., Wright, Genevieve, Ockrim, Zoe, Scalco, Renata S., Robson, Anthony G., Tufail, Adnan, Michaelides, Michel, Quinlivan, Ros, Webster, Andrew R.
Publicado 2019

Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era

por Walter, Maggie C., Chiriboga, Claudia, Duong, Tina, Goemans, Nathalie, Mayhew, Anna, Ouillade, Laëtitia, Oskoui, Maryam, Quinlivan, Ros, Vázquez-Costa, Juan F., Vissing, John, Servais, Laurent
Publicado 2021

Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

por Buch, Astrid Emilie, Musumeci, Olimpia, Wigley, Ralph, Stemmerik, Mads Peter Godtfeldt, Eisum, Anne‐Sofie Vibæk, Madsen, Karen Lindhardt, Preisler, Nicolai, Hilton‐Jones, David, Quinlivan, Ros, Toscano, Antonio, Vissing, John
Publicado 2021

“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of peop...

por Ambrosini, Anna, Quinlivan, Ros, Sansone, Valeria A., Meijer, Ingeborg, Schrijvers, Guus, Tibben, Aad, Padberg, George, de Wit, Maarten, Sterrenburg, Ellen, Mejat, Alexandre, Breukel, Alexandra, Rataj, Michal, Lochmüller, Hanns, Willmann, Raffaella
Publicado 2019

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

por Lornage, Xavière, Schartner, Vanessa, Balbueno, Inès, Biancalana, Valérie, Willis, Tracey, Echaniz-Laguna, Andoni, Scheidecker, Sophie, Quinlivan, Ros, Fardeau, Michel, Malfatti, Edoardo, Lannes, Béatrice, Sewry, Caroline, Romero, Norma B., Laporte, Jocelyn, Böhm, Johann
Publicado 2019

Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations

por Bourke, John, Turner, Cathy, Bradlow, William, Chikermane, Ashish, Coats, Caroline, Fenton, Matthew, Ilina, Maria, Johnson, Alexandra, Kapetanakis, Stam, Kuhwald, Lisa, Morley-Davies, Adrian, Quinlivan, Ros, Savvatis, Konstantinos, Schiava, Marianela, Yousef, Zaheer, Guglieri, Michela
Publicado 2022

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

por Holmes, Sarah, Male, Amanda J, Ramdharry, Gita, Woodward, Cathy, James, Natalie, Skorupinska, Iwona, Skorupinska, Mariola, Germain, Louise, Kozyra, Damian, Bugiardini, Enrico, Poole, Olivia V, Quinlivan, Ros, Hanna, Michael G, Kaski, Diego, Pitceathly, Robert D S
Publicado 2019

No effect of triheptanoin on exercise performance in McArdle disease

por Madsen, Karen L., Laforêt, Pascal, Buch, Astrid E., Stemmerik, Mads G., Ottolenghi, Chris, Hatem, Stéphane N., Raaschou‐Pedersen, Daniel T., Poulsen, Nanna S., Atencio, Maria, Luton, Marie‐Pierre, Ceccaldi, Alexandre, Haller, Ronald G., Quinlivan, Ros, Mochel, Fanny, Vissing, John
Publicado 2019

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

por Matthews, Emma, Neuwirth, Christoph, Jaffer, Fatima, Scalco, Renata S., Fialho, Doreen, Parton, Matt, Raja Rayan, Dipa, Suetterlin, Karen, Sud, Richa, Spiegel, Roland, Mein, Rachel, Houlden, Henry, Schaefer, Andrew, Healy, Estelle, Palace, Jacqueline, Quinlivan, Ros, Treves, Susan, Holton, Janice L., Jungbluth, Heinz, Hanna, Michael G.
Publicado 2018

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

por Pinós, Tomàs, Andreu, Antoni L., Bruno, Claudio, Hadjigeorgiou, Georgios M., Haller, Ronald G., Laforêt, Pascal, Lucía, Alejandro, Martín, Miguel A., Martinuzzi, Andrea, Navarro, Carmen, Oflazer, Piraye, Pouget, Jean, Quinlivan, Ros, Sacconi, Sabrina, Scalco, Renata S., Toscano, Antonio, Vissing, John, Vorgerd, Matthias, Wakelin, Andrew, Martí, Ramon
Publicado 2020

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

por Scalco, Renata S., Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Voermans, Nicol C., Kouwenberg, Carlyn V., Laforêt, Pascal, San-Millán, Beatriz, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebeca, Sacconi, Sabrina, Stemmerik, Mads G., Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John
Publicado 2020