Search Results - "LILLIS, S"

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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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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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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Pyloric localisation in 57 dogs of breeds susceptible to gastric dilatation-volvulus in the UK using computed tomography by Tomlinson, A. W., Lillis, S. M., German, A. J., Burrow, R. D.

“…Objective:Describe the location of the pylorus using CT in dog breeds susceptible to gastric dilatation-volvulus in the UK.Methods:Descriptive anatomical…”
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NEMALINE MYOPATHY WITH STIFFNESS AND HYPERTONIA ASSOCIATED WITH AN ACTA1 MUTATION by JAIN, R. K, JAYAWANT, S, RAVENSCROFT, G, NOWAK, K. J, MEMO, M, MARSTON, S. B, LAING, N. G, SQUIER, W, MUNTONI, F, SEWRY, C. A, MANZUR, A, QUINLIVAN, R, LILLIS, S, JUNGBLUTH, H, SPARROW, J. C

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Late presentation of canine nasal tumours in a UK referral hospital andtreatment outcomes by Mason, S. L, Maddox, T. W, Lillis, S. M, Blackwood, L

“…Objectives To determine the computed tomographic stage of dogs with nasal tumours in a UK referral population, and whether stage, time to referral and…”
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Late presentation of canine nasal tumours in a UK referral hospital and treatment outcomes by Mason, S. L., Maddox, T. W., Lillis, S. M., Blackwood, L.

“…Objectives To determine the computed tomographic stage of dogs with nasal tumours in a UK referral population, and whether stage, time to referral and…”
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Interfamilial phenotypic heterogeneity in SMARD1 by Joseph, S, Robb, S.A, Mohammed, S, Lillis, S, Simonds, A, Manzur, A.Y, Walter, S, Wraige, E

“…Abstract Spinal muscular atrophy with respiratory distress (SMARD1: μ-binding protein 2 gene mutation) is characterised by low birth weight, progressive distal…”
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P61 The spectrum of genetic defects responsible for congenital fibre type disproportion by Feng, L, Phadke, R, Jungbluth, H, Lillis, S, Cullup, T, Chambers, D, Abbs, S, Muntoni, F, Sewry, C

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O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis by Dlamini, N, Voermans, N.C, Lillis, S, Abbs, S, Kamsteeg, E, Al-Sarraj, S, Lammens, M, Muntoni, F, Quinlivan, R, Wraige, E, van Engelen, B, Jungbluth, H

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P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene by Løseth, S, Lillis, S, Torbergsen, T, Jonsrud, C, Lindal, S, Maddison, P, Muntoni, F, Sewry, C, Abbs, S, Straub, V, H. Jungbluth

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P3.31 Congenital myopathies – clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience by Maggi, L, Scoto, M, Cirak, S, Feng, L, Lillis, S, Cullup, T, Robb, S, Manzur, A, Sewry, C.A, Abbs, S, Jungbluth, H, Muntoni, F

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P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations by Feng, L.H, Scoto, M, R. Phadke, Lillis, S, Cullup, T, Mein, R, Abbs, S, Muntoni, F, Sewry, C.A

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G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene by Jungbluth, H, Cullup, T, Lillis, S, Zhou, H, Sewry, C, Abbs, S, Muntoni, F

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P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene by Klein, A, Lillis, S, Oprea, I, Scoto, M, Robb, S, Manzur, A, Straub, V, Roper, H, Jeannet, P.Y, Kingston, H, Jensen, U.B, Wraige, E, Trump, N, Rakowicz, W, M. Roberts, Longman, C, Lochmuller, H, Bushby, K, Hughes, M.I, Abbs, S, Jungbluth, H, Muntoni, F

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G.P.13.07 Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene by Jungbluth, H, Lillis, S, Zhou, H, Abbs, S, Swash, M, Muntoni, F

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Understanding the Complex Role of a Hospice Spiritual Counselor by Lillis, Bonnie S.

“…Hospice’s professional roles in end-of-life care can be widely misunderstood by physicians, patients, and family members as well as others who do not work…”
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G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene by Dowling, J, Lillis, S, Amburgey, K, Leber, S, Zhou, H, Al-Sarraj, S, Wraige, E, Abbs, S, Sewry, C, Muntoni, F, Jungbluth, H

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G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene by Wilmshurst, J, Lillis, S, Zhou, H, Kress, W, Solomon, R, Ndondo, A, Greenberg, J, Sinclair-Smith, C.C, Bertini, E, Boennemann, C, Straub, V, Quinlivan, R, Sewry, C.A, Wraige, E, Abbs, S, Muntoni, F, Jungbluth, H

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Pyloric localisation in 57 dogs of breeds susceptible to gastric dilatation‐volvulus using computed tomography by Tomlinson, A. W., Lillis, S. M., German, A. J., Burrow, R. D.

“…Objective: Describe the location of the pylorus using CT in dog breeds susceptible to gastric dilatation‐volvulus in the UK. Methods: Descriptive anatomical…”
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