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Ros Quinlivan

Research Profile

Disorders

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Publications

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Valeria Ricotti; Deborah A Ridout; Stephanie A Robb; Elaine Scott; Adnan Y Manzur; Francesco Muntoni; Ros Quinlivan
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.
Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
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 Y Manzur; Stephanie Robb; Richard E Appleton; Sonia Messina; Adele D'Amico; Ros Quinlivan; Michael Swash; Clemens R Müller; Susan Brown; Susan Treves; Francesco Muntoni
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

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All Publications

2013: Valeria Ricotti; Deborah A Ridout; Stephanie A Robb; Elaine Scott; Adnan Y Manzur; Francesco Muntoni; Ros Quinlivan
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry 2013;84(6):698-705.
2007: Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2007: 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 Y Manzur; Stephanie Robb; Richard E Appleton; Sonia Messina; Adele D'Amico; Ros Quinlivan; Michael Swash; Clemens R Müller; Susan Brown; Susan Treves; Francesco Muntoni
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain : a journal of neurology 2007;130(Pt 8):2024-36.
2005: Ros Quinlivan; Helen Roper; M Davie; N J Shaw; J McDonagh; Kate Bushby
Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention.
Neuromuscular disorders : NMD 2005;15(1):72-9.
2004: Heinz Jungbluth; Alan Beggs; Carsten G Bönnemann; Kate Bushby; Chantal Ceuterick-de Groote; Brigitte Estournet-Mathiaud; Nathalie Goemans; Pascale Guicheney; Alain Lescure; Joël Lunardi; Francesco Muntoni; Ros Quinlivan; Caroline Sewry; Volker Straub; Susan Treves; Ana Ferreiro
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2004;14(11):754-66.
2004: Sylvie Ducreux; Francesco Zorzato; Clemens Müller; Caroline Sewry; Francesco Muntoni; Ros Quinlivan; Gabriella Restagno; Thierry Girard; Susan Treves
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.
The Journal of biological chemistry 2004;279(42):43838-46.
2004: Eugenio Mercuri; Maja Poppe; Ros Quinlivan; Sonia Messina; Maria Kinali; Laurence Demay; John Bourke; Pascale Richard; Caroline Sewry; Mike Pike; Gisèle Bonne; Francesco Muntoni; Kate Bushby
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Archives of neurology 2004;61(5):690-4.
2003: Mark R Davis; E Haan; Heinz Jungbluth; Caroline Sewry; Kathryn North; Francesco Muntoni; Thierry Kuntzer; P Lamont; A Bankier; P Tomlinson; A Sánchez; P Walsh; L Nagarajan; C Oley; A Colley; Agi K Gedeon; Ros Quinlivan; J Dixon; Danielle James; Clemens R Müller; Nigel G Laing
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Neuromuscular disorders : NMD 2003;13(2):151-7.
2002: Caroline A Sewry; C Müller; M Davis; J S M Dwyer; J Dove; G Evans; R Schröder; D Fürst; T Helliwell; Nigel Laing; Ros Quinlivan
The spectrum of pathology in central core disease.
Neuromuscular disorders : NMD 2002;12(10):930-8.