Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2013)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2013)
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Journal Article
Search for light dark matter in XENON10 data
Angle, J, Aprile, E, Arneodo, F, Baudis, L, Bernstein, A, Bolozdynya, A I, Coelho, L C C, Dahl, C E, DeViveiros, L, Ferella, A D, Fernandes, L M P, Fiorucci, S, Gaitskell, R J, Giboni, K L, Gomez, R, Hasty, R, Kastens, L, Kwong, J, Lopes, J A M, Madden, N, Manalaysay, A, Manzur, A, McKinsey, D N, Monzani, M E, Ni, K, Oberlack, U, Orboeck, J, Plante, G, Santorelli, R, dos Santos, J M F, Schulte, S, Shagin, P, Shutt, T, Sorensen, P, Winant, C, Yamashita, M
Published in Physical review letters (27.07.2011)
Published in Physical review letters (27.07.2011)
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Journal Article
Glucocorticoid corticosteroids for Duchenne muscular dystrophy
Manzur, A Y, Kuntzer, T, Pike, M, Swan, A
Published in Cochrane database of systematic reviews (01.01.2008)
Published in Cochrane database of systematic reviews (01.01.2008)
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Journal Article
RYR1 mutations are a common cause of congenital myopathies with central nuclei
Wilmshurst, J.M., Lillis, S., Zhou, H., Pillay, K., Henderson, H., Kress, W., Müller, C.R., Ndondo, A., Cloke, V., Cullup, T., Bertini, E., Boennemann, C., Straub, V., Quinlivan, R., Dowling, J.J., Al- Sarraj, S., Treves, S., Abbs, S., Manzur, A.Y., Sewry, C.A., Muntoni, F., Jungbluth, H.
Published in Annals of neurology (01.11.2010)
Published in Annals of neurology (01.11.2010)
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Journal Article
Natural history of Ullrich congenital muscular dystrophy
Nadeau, A, Kinali, M, Main, M, Jimenez-Mallebrera, C, Aloysius, A, Clement, E, North, B, Manzur, A Y, Robb, S A, Mercuri, E, Muntoni, F
Published in Neurology (07.07.2009)
Published in Neurology (07.07.2009)
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Journal Article
Muscle histology vs MRI in Duchenne muscular dystrophy
Kinali, M, Arechavala-Gomeza, V, Cirak, S, Glover, A, Guglieri, M, Feng, L, Hollingsworth, K G, Hunt, D, Jungbluth, H, Roper, H P, Quinlivan, R M, Gosalakkal, J A, Jayawant, S, Nadeau, A, Hughes-Carre, L, Manzur, A Y, Mercuri, E, Morgan, J E, Straub, V, Bushby, K, Sewry, C, Rutherford, M, Muntoni, F
Published in Neurology (25.01.2011)
Published in Neurology (25.01.2011)
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A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs
Edel, L, Grime, C, Robinson, V, Manzur, A, Abel, F, Munot, P, Ridout, D, Scoto, M, Muntoni, F, Chan, E
Published in Neuromuscular disorders : NMD (01.04.2021)
Published in Neuromuscular disorders : NMD (01.04.2021)
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Journal Article
First results from the XENON10 dark matter experiment at the Gran Sasso National Laboratory
Angle, J, Aprile, E, Arneodo, F, Baudis, L, Bernstein, A, Bolozdynya, A, Brusov, P, Coelho, L C C, Dahl, C E, DeViveiros, L, Ferella, A D, Fernandes, L M P, Fiorucci, S, Gaitskell, R J, Giboni, K L, Gomez, R, Hasty, R, Kastens, L, Kwong, J, Lopes, J A M, Madden, N, Manalaysay, A, Manzur, A, McKinsey, D N, Monzani, M E, Ni, K, Oberlack, U, Orboeck, J, Plante, G, Santorelli, R, dos Santos, J M F, Shagin, P, Shutt, T, Sorensen, P, Schulte, S, Winant, C, Yamashita, M
Published in Physical review letters (18.01.2008)
Published in Physical review letters (18.01.2008)
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Journal Article
Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies
Sa, M., Sarkozy, A., Manzur, A., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
SEPN1-related myopathies: clinical course in a large cohort of patients
Scoto, M, Cirak, S, Mein, R, Feng, L, Manzur, A Y, Robb, S, Childs, A-M, Quinlivan, R M, Roper, H, Jones, D H, Longman, C, Chow, G, Pane, M, Main, M, Hanna, M G, Bushby, K, Sewry, C, Abbs, S, Mercuri, E, Muntoni, F
Published in Neurology (14.06.2011)
Published in Neurology (14.06.2011)
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Breakthrough candidaemia in the era of broad-spectrum antifungal therapies
Cuervo, G., Garcia-Vidal, C., Nucci, M., Puchades, F., Fernández-Ruiz, M., Obed, M., Manzur, A., Gudiol, C., Pemán, J., Aguado, J.M., Ayats, J., Carratalà, J.
Published in Clinical microbiology and infection (01.02.2016)
Published in Clinical microbiology and infection (01.02.2016)
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Journal Article
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H
Published in Neuromuscular disorders : NMD (01.07.2013)
Published in Neuromuscular disorders : NMD (01.07.2013)
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Journal Article
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
Illingworth, M.A., Meyer, E., Chong, W.K., Manzur, A.Y., Carr, L.J., Younis, R., Hardy, C., McDonald, F., Childs, A.M., Stewart, B., Warren, D., Kneen, R., King, M.D., Hayflick, S.J., Kurian, M.A.
Published in Molecular genetics and metabolism (01.06.2014)
Published in Molecular genetics and metabolism (01.06.2014)
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Journal Article
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Maggi, L, Scoto, M, Cirak, S, Robb, S.A, Klein, A, Lillis, S, Cullup, T, Feng, L, Manzur, A.Y, Sewry, C.A, Abbs, S, Jungbluth, H, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2013)
Published in Neuromuscular disorders : NMD (01.03.2013)
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Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy
Silwal, A., Pitt, M., Phadke, R., Mankad, K., Davison, J.E., Rossor, A., DeVile, C., Reilly, M.M., Manzur, A.Y., Muntoni, F., Munot, P.
Published in Neuromuscular disorders : NMD (01.09.2018)
Published in Neuromuscular disorders : NMD (01.09.2018)
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