Works matching AU Quinlivan, Rosaline

Results: 8

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093

By:

Bugiardini, Enrico;
Mitchell, Alice L;
Rosa, Ilaria Dalla;
Horning-Do, Hue-Tran;
Pitmann, Alan M;
Poole, Olivia V;
Holton, Janice L;
Shah, Sachit;
Woodward, Cathy;
Hargreaves, Iain;
Quinlivan, Rosaline;
Amunts, Alexey;
Wiesner, Rudolf J;
Houlden, Henry;
Holt, Ian J;
Hanna, Michael G;
Pitceathly, Robert D S;
Spinazzola, Antonella

Publication type:

Article

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Published in:

2022

By:

Cabrera-Serrano, Macarena;
Caccavelli, Laure;
Savarese, Marco;
Vihola, Anna;
Jokela, Manu;
Johari, Mridul;
Capiod, Thierry;
Madrange, Marine;
Bugiardini, Enrico;
Brady, Stefen;
Quinlivan, Rosaline;
Merve, Ashirwad;
Scalco, Renata;
Hilton-Jones, David;
Houlden, Henry;
Aydin, Halil Ibrahim;
Ceylaner, Serdar;
Drewes, Sarah;
Vockley, Jerry;
Taylor, Rhonda L

Publication type:

journal article

Cardiac manifestations of McArdle disease.

Published in:

European Heart Journal, 2019, v. 40, n. 4, p. 397, doi. 10.1093/eurheartj/ehy783

By:

Jones, Daniel M;
Lopes, Luis;
Quinlivan, Rosaline;
Elliott, Perry M;
Khanji, Mohammed Y

Publication type:

Article

Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1409, doi. 10.1002/jimd.12438

By:

Pizzamiglio, Chiara;
Mahroo, Omar A.;
Khan, Kamron N.;
Patasin, Maria;
Quinlivan, Rosaline

Publication type:

Article

Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study.

Published in:

Muscle & Nerve, 2022, v. 65, n. 1, p. 67, doi. 10.1002/mus.27427

By:

Trucco, Federica;
Ridout, Deborah;
Domingos, Joana;
Maresh, Kate;
Chesshyre, Mary;
Munot, Pinki;
Sarkozy, Anna;
Robb, Stephanie;
Quinlivan, Rosaline;
Riley, Mollie;
Wallis, Colin;
Chan, Elaine;
Abel, Francois;
De Lucia, Silvana;
Hogrel, Jean‐Yves;
Niks, Erik H.;
de Groot, Imelda;
Servais, Laurent;
Straub, Volker;
Ricotti, Valeria

Publication type:

Article

A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy.

Published in:

Disability & Rehabilitation, 2023, v. 45, n. 8, p. 1285, doi. 10.1080/09638288.2022.2060336

By:

Donnelly, Clare M.;
Quinlivan, Rosaline M.;
Herron, Aaron;
Graham, Christopher D.

Publication type:

Article