Search Results - "MANZUR, A"

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy by Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco

“…Objective To assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy in the UK, and compare the benefits and the adverse events of daily…”
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Search for light dark matter in XENON10 data by 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

“…We report results of a search for light (≲10  GeV) particle dark matter with the XENON10 detector. The event trigger was sensitive to a single electron, with…”
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Glucocorticoid corticosteroids for Duchenne muscular dystrophy by Manzur, A Y, Kuntzer, T, Pike, M, Swan, A

“…Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. This incurable disease is characterised by muscle wasting and loss of…”
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Diagnosis and new treatments in muscular dystrophies by Manzur, A Y, Muntoni, F

“…Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle muscular dystrophies (LGMD) represent a significant proportion of paediatric…”
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RYR1 mutations are a common cause of congenital myopathies with central nuclei by 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.

“…Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated…”
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Update on the management of Duchenne muscular dystrophy by Manzur, A Y, Kinali, M, Muntoni, F

“…Duchenne muscular dystrophy (DMD) is familiar to paediatricians as the most common childhood muscular dystrophy and leads to severe disability and early death…”
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Natural history of Ullrich congenital muscular dystrophy by NADEAU, A, KINALI, M, MUNTONI, F, MAIN, M, JIMENEZ-MALLEBRERA, C, ALOYSIUS, A, CLEMENT, E, NORTH, B, MANZUR, A. Y, ROBB, S. A, MERCURI, E

“…To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including…”
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Muscle histology vs MRI in Duchenne muscular dystrophy by KINALI, M, ARECHAVALA-GOMEZA, V, 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, CIRAK, S, SEWRY, C, RUTHERFORD, M, MUNTONI, F, GLOVER, A, GUGLIERI, M, FENG, L, HOLLINGSWORTH, K. G, HUNT, D, JUNGBLUTH, H, ROPER, H. P

“…There are currently no effective treatments to halt the muscle breakdown in Duchenne muscular dystrophy (DMD), although genetic-based clinical trials are being…”
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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 by Edel, L, Grime, C, Robinson, V, Manzur, A, Abel, F, Munot, P, Ridout, D, Scoto, M, Muntoni, F, Chan, E

“…•The first objective measure to enable tracking of respiratory function for type 1.•Scoring system focuses on ventilation, secretion management and subtype.•By…”
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First results from the XENON10 dark matter experiment at the Gran Sasso National Laboratory by 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

“…The XENON10 experiment at the Gran Sasso National Laboratory uses a 15 kg xenon dual phase time projection chamber to search for dark matter weakly interacting…”
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Methicillin-resistant Staphylococcus aureus in long-term-care facilities by Manzur, A., Gudiol, F.

“…Owing to a high prevalence of methicillin-resistant Staphylococcus aureus (MRSA) among residents, long-term-care facilities (LTCFs) have become substantial…”
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Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies by Sa, M., Sarkozy, A., Manzur, A., Muntoni, F.

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Diagnosis and new treatments in muscular dystrophies by Manzur, A Y, Muntoni, F

“…Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle muscular dystrophies (LGMD) represent a significant proportion of paediatric…”
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SEPN1-related myopathies: Clinical course in a large cohort of patients by SCOTO, M, CIRAK, S, LONGMAN, C, CHOW, G, PANE, M, MAIN, M, HANNA, M. G, BUSHBY, K, SEWRY, C, ABBS, S, MERCURI, E, MUNTONI, F, MEIN, R, FENG, L, MANZUR, A. Y, ROBB, S, CHILDS, A.-M, QUINLIVAN, R. M, ROPER, H, JONES, D. H

“…To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene…”
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Breakthrough candidaemia in the era of broad-spectrum antifungal therapies by 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.

“…We aimed to assess the characteristics, treatment, risk factors and outcome of patients with breakthrough candidaemia (BrC) in the era of broad-spectrum…”
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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis by 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

“…Abstract Mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene are a common cause of neuromuscular disease, ranging from various congenital…”
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PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease by 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.

“…Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We…”
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The natural history of the North Star Ambulatory Assessment (NSAA) in patients with Duchenne muscular dystrophy with skippable mutations by Domingos, J, Manzur, A, Ridout, D, Muntoni, F

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom by 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

“…Abstract The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features…”
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Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy by 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.

“…•The diagnosis of CIDP can be challenging.•In our cohort 52% were diagnosed as CIDP on re-evaluation.•Cranial nerve abnormality is rare and may be only…”
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