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Rhabdomyolysis: a genetic perspective.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0264-3
By:
- Scalco, Renata Siciliani;
- Gardiner, Alice R.;
- Pitceathly, Robert D. S.;
- Zanoteli, Edmar;
- Becker, Jefferson;
- Holton, Janice L.;
- Houlden, Henry;
- Jungbluth, Heinz;
- Quinlivan, Ros
Publication type:
Article
Rhabdomyolysis: a genetic perspective.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0264-3
By:
- Scalco, Renata Siciliani;
- Gardiner, Alice R;
- Pitceathly, Robert DS;
- Zanoteli, Edmar;
- Becker, Jefferson;
- Holton, Janice L;
- Houlden, Henry;
- Jungbluth, Heinz;
- Quinlivan, Ros
Publication type:
Article
Rhabdomyolysis: a genetic perspective.
Published in:
2015
By:
- Scalco, Renata Siciliani;
- Gardiner, Alice R;
- Pitceathly, Robert Ds;
- Zanoteli, Edmar;
- Becker, Jefferson;
- Holton, Janice L;
- Houlden, Henry;
- Jungbluth, Heinz;
- Quinlivan, Ros
Publication type:
journal article
Resistance Exercise Training in McArdle Disease: Myth or Reality?
Published in:
Case Reports in Neurological Medicine, 2018, p. 1, doi. 10.1155/2018/9658251
By:
- Pietrusz, Aleksandra;
- Scalco, Renata S.;
- Quinlivan, Ros
Publication type:
Article
"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 people with a neuromuscular disease.
Published in:
2019
By:
- 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;
- 235th ENMC workshop study group
Publication type:
journal article
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Published in:
Muscle & Nerve, 2014, v. 50, n. 4, p. 477, doi. 10.1002/mus.24332
By:
- Bushby, Katharine;
- Finkel, Richard;
- Wong, Brenda;
- Barohn, Richard;
- Campbell, Craig;
- Comi, Giacomo P.;
- Connolly, Anne M.;
- Day, John W.;
- Flanigan, Kevin M.;
- Goemans, Nathalie;
- Jones, Kristi J.;
- Mercuri, Eugenio;
- Quinlivan, Ros;
- Renfroe, James B.;
- Russman, Barry;
- Ryan, Monique M.;
- Tulinius, Mar;
- Voit, Thomas;
- Moore, Steven A.;
- Lee Sweeney, H.
Publication type:
Article
Myopathic causes of exercise intolerance with rhabdomyolysis.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 886, doi. 10.1111/j.1469-8749.2012.04320.x
By:
- QUINLIVAN, ROS;
- JUNGBLUTH, HEINZ
Publication type:
Article
Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation.
Published in:
Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 381, doi. 10.1111/j.1469-8749.2010.03901.x
By:
- Absoud, Michael;
- Brueton, Louise;
- Gupta, Rajat;
- Quinlivan, Ros;
- Wassmer, Evangeline
Publication type:
Article
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0781-8
By:
- 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
Publication type:
Article
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 5, p. 610, doi. 10.1038/ejhg.2014.162
By:
- Klaassens, Merel;
- Morrogh, Deborah;
- Rosser, Elisabeth M;
- Jaffer, Fatima;
- Vreeburg, Maaike;
- Bok, Levinus A;
- Segboer, Tim;
- van Belzen, Martine;
- Quinlivan, Ros M;
- Kumar, Ajith;
- Hurst, Jane A;
- Scott, Richard H
Publication type:
Article
Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII).
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 60, doi. 10.1002/jmd2.12232
By:
- 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
Publication type:
Article
The need for biochemical testing in beta‐enolase deficiency in the genomic era.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 40, doi. 10.1002/jmd2.12070
By:
- Wigley, Ralph;
- Scalco, Renata S.;
- Gardiner, Alice R.;
- Godfrey, Richard;
- Booth, Suzanne;
- Kirk, Richard;
- Hilton‐Jones, David;
- Houlden, Henry;
- Heales, Simon;
- Quinlivan, Ros
Publication type:
Article
High-resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease.
Published in:
Annals of Human Genetics, 2009, v. 73, n. 3, p. 292, doi. 10.1111/j.1469-1809.2009.00512.x
By:
- Duno, Morten;
- Quinlivan, Ros;
- Vissing, John;
- Schwartz, Marianne
Publication type:
Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
By:
- Haiyan Zhou;
- Heinz Jungbluth;
- Caroline A. Sewry;
- Lucy Feng;
- Enrico Bertini;
- Kate Bushby;
- Volker Straub;
- Helen Roper;
- Michael R. Rose;
- Martin Brockington;
- Maria Kinali;
- Adnan Manzur;
- Stephanie Robb;
- Richard Appleton;
- Sonia Messina;
- Adele DAmico;
- Ros Quinlivan;
- Michael Swash;
- Clemens R. Müller;
- Susan Brown
Publication type:
Article
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 103, doi. 10.3233/JND-230027
By:
- Karazi, Walaa;
- Coppers, Jacqueline;
- Maas, Daphne;
- Cup, Edith;
- Bloemen, Bart;
- Voet, Nicole;
- Groothuis, Jan T.;
- Pinós, Tomàs;
- Marti Seves, Ramon;
- Quinlivan, Ros;
- Løkken, Nicoline;
- Vissing, John;
- Bhai, Salman;
- Wakelin, Andrew;
- Reason, Stacey;
- Voermans, Nicol C.
Publication type:
Article
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 543, doi. 10.3233/JND-200611
By:
- Walter, Maggie C.;
- Chiriboga, Claudia A.;
- Duong, Tina;
- Goemans, Nathalie;
- Mayhew, Anna;
- Ouillade, Laëtitia;
- Oskoui, Maryam;
- Quinlivan, Ros;
- Vázquez-Costa, Juan F.;
- Vissing, John;
- Servais, Laurent
Publication type:
Article
No effect of triheptanoin on exercise performance in McArdle disease.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1949, doi. 10.1002/acn3.50863
By:
- 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
Publication type:
Article
The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1.
Published in:
Translational Neuroscience, 2010, v. 1, n. 3, p. 195, doi. 10.2478/v10134-010-0029-4
By:
- Holt, Ian;
- Quinlivan, Ros;
- Couto, Jillian;
- Monckton, Darren;
- Morris, Glenn
Publication type:
Article
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Published in:
2020
By:
- 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
Publication type:
journal article
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity.
Published in:
Brain Pathology, 2009, v. 19, n. 4, p. 596, doi. 10.1111/j.1750-3639.2008.00198.x
By:
- Jimenez-Mallebrera, Cecilia;
- Torelli, Silvia;
- Feng, Lucy;
- Kim, Jihee;
- Godfrey, Caroline;
- Clement, Emma;
- Mein, Rachael;
- Abbs, Stephen;
- Brown, Susan C.;
- Campbell, Kevin P.;
- Kröger, Stephan;
- Talim, Beril;
- Topaloglu, Haluk;
- Quinlivan, Ros;
- Roper, Helen;
- Childs, Anne M.;
- Kinali, Maria;
- Sewry, Caroline A.;
- Muntoni, Francesco
Publication type:
Article
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Published in:
Annals of Neurology, 2008, v. 64, n. 5, p. 573, doi. 10.1002/ana.21482
By:
- Clement, Emma;
- Mercuri, Eugenio;
- Godfrey, Caroline;
- Smith, Janine;
- Robb, Stephanie;
- Kinali, Maria;
- Straub, Volker;
- Bushby, Kate;
- Manzur, Adnan;
- Talim, Beril;
- Cowan, Frances;
- Quinlivan, Ros;
- Klein, Andrea;
- Longman, Cheryl;
- McWilliam, Robert;
- Topaloglu, Haluk;
- Mein, Rachael;
- Abbs, Stephen;
- North, Kathryn;
- Barkovich, A. James
Publication type:
Article
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Published in:
Annals of Neurology, 2007, v. 62, n. 4, p. 390, doi. 10.1002/ana.21213
By:
- Baker, Naomi L.;
- Mörgelin, Matthias;
- Pace, Rishika A.;
- Peat, Rachel A.;
- Adams, Naomi E.;
- Gardner, R. J. McKinlay;
- Rowland, Lewis P.;
- Miller, Geoffrey;
- De Jonghe, Peter;
- Ceulemans, Berten;
- Hannibal, Mark C.;
- Edwards, Matthew;
- Thompson, Elizabeth M.;
- Jacobson, Richard;
- Quinlivan, Ros C. M.;
- Aftimos, Salim;
- Kornberg, Andrew J.;
- North, Kathryn N.;
- Bateman, John F.;
- Lamandé, Shireen R.
Publication type:
Article
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
Published in:
Journal of Neurology, 2014, v. 261, n. 12, p. 2424, doi. 10.1007/s00415-014-7512-7
By:
- Musumeci, Olimpia;
- Brady, Stefen;
- Rodolico, Carmelo;
- Ciranni, Annamaria;
- Montagnese, Federica;
- Aguennouz, M'hammed;
- Kirk, Richard;
- Allen, Elizabeth;
- Godfrey, Richard;
- Romeo, Sara;
- Murphy, Elaine;
- Rahman, Shamima;
- Quinlivan, Ros;
- Toscano, Antonio
Publication type:
Article
Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 778, doi. 10.1002/jimd.12223
By:
- Løkken, Nicoline;
- Hansen, Kit K.;
- Storgaard, Jesper H.;
- Ørngreen, Mette C.;
- Quinlivan, Ros;
- Vissing, John
Publication type:
Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083
By:
- Treves, Susan;
- Vukcevic, Mirko;
- Jeannet, Pierre-Yves;
- Levano, Soledad;
- Girard, Thierry;
- Urwyler, Albert;
- Fischer, Dirk;
- Voit, Thomas;
- Jungbluth, Heinz;
- Lillis, Sue;
- Muntoni, Francesco;
- Quinlivan, Ros;
- Sarkozy, Anna;
- Bushby, Kate;
- Zorzato, Francesco
Publication type:
Article
Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03372-x
By:
- Landfeldt, Erik;
- Alemán, Alberto;
- Abner, Sophia;
- Zhang, Rongrong;
- Werner, Christian;
- Tomazos, Ioannis;
- Lochmüller, Hanns;
- Quinlivan, Ros M.;
- Wahbi, Karim
Publication type:
Article
Workshop report: Workshop on psychiatric prescribing and psychology testing and intervention in children and adults with Duchenne muscular dystrophy.
Published in:
Research Ideas & Outcome Journal, 2024, p. 1, doi. 10.3897/rio.10.e119243
By:
- Bouquillon, Linda;
- Bindman, Dot;
- Hendriksen, Jos;
- Collin, Phillipe;
- Hoskin, Janet;
- Conn, Rory;
- Geagan, Chloe;
- Quinlivan, Ros
Publication type:
Article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Published in:
Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
By:
- Horga, Alejandro;
- Manole, Andreea;
- Mitchell, Alice L.;
- Bugiardini, Enrico;
- Hargreaves, Iain P.;
- Mowafi, Walied;
- Bettencourt, Conceição;
- Blakely, Emma L.;
- He, Langping;
- Polke, James M.;
- Woodward, Catherine E.;
- Dalla Rosa, Ilaria;
- Shah, Sachit;
- Pittman, Alan M.;
- Quinlivan, Ros;
- Reilly, Mary M.;
- Taylor, Robert W.;
- Holt, Ian J.;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.
Publication type:
Article
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1310, doi. 10.1002/humu.22136
By:
- Klein, Andrea;
- Lillis, Suzanne;
- Munteanu, Iulia;
- Scoto, Mariacristina;
- Zhou, Haiyan;
- Quinlivan, Ros;
- Straub, Volker;
- Manzur, Adnan Y.;
- Roper, Helen;
- Jeannet, Pierre-Yves;
- Rakowicz, Wojtek;
- Jones, David Hilton;
- Jensen, Uffe Birk;
- Wraige, Elizabeth;
- Trump, Natalie;
- Schara, Ulrike;
- Lochmuller, Hanns;
- Sarkozy, Anna;
- Kingston, Helen;
- Norwood, Fiona
Publication type:
Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 3, p. 589, doi. 10.1093/hmg/ddq506
By:
- Treves, Susan;
- Vukcevic, Mirko;
- Jeannet, Pierre-Yves;
- Levano, Soledad;
- Girard, Thierry;
- Urwyler, Albert;
- Fischer, Dirk;
- Voit, Thomas;
- Jungbluth, Heinz;
- Lillis, Sue;
- Muntoni, Francesco;
- Quinlivan, Ros;
- Sarkozy, Anna;
- Bushby, Kate;
- Zorzato, Francesco
Publication type:
Article
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Published in:
American Journal of Case Reports, 2017, v. 18, p. 17, doi. 10.12659/AJCR.900970
By:
- Scalco, Renata Siciliani;
- Lorenzoni, Paulo José;
- Lynch, David S.;
- Martins, William Alves;
- Jungbluth, Heinz;
- Quinlivan, Ros;
- Becker, Jefferson;
- Houlden, Henry
Publication type:
Article
Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit.
Published in:
2013
By:
- Willis, Tracey;
- Roberts, Mark;
- Hilton-Jones, David;
- Quinlivan, Ros;
- Hanna, Mike;
- Straub, Volker
Publication type:
Abstract

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