Search Results - "Cullup, T."

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…”
Get full text

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…”
Get full text

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly by Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

“…Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong…”
Get full text

Interleukin‐10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel disease by McDonald, B. S., Narayanan, S., Elawad, M., Kiparissi, F., Cullup, T., Batta, K.

“…Summary Inflammatory bowel disease (IBD) can be divided into Crohn disease, ulcerative colitis and inflammatory bowel disease unclassified (IBDU). In most…”
Get full text

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement by Cullup, T, Lamont, P.J, Cirak, S, Damian, M.S, Wallefeld, W, Gooding, R, Tan, S.V, Sheehan, J, Muntoni, F, Abbs, S, Sewry, C.A, Dubowitz, V, Laing, N.G, Jungbluth, H

“…Abstract Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the “core myopathies”) have been mainly associated with mutations in the skeletal muscle…”
Get full text

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008 by Clement, E.M, Feng, L, Mein, R, Sewry, C.A, Robb, S.A, Manzur, A.Y, Mercuri, E, Godfrey, C, Cullup, T, Abbs, S, Muntoni, F

“…Abstract The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective…”
Get full text

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 ( TPM3 ) gene mimicking congenital myasthenia by Munot, P, Lashley, D, Jungbluth, H, Feng, L, Pitt, M, Robb, S.A, Palace, J, Jayawant, S, Kennet, R, Beeson, D, Cullup, T, Abbs, S, Laing, N, Sewry, C, Muntoni, F

“…Abstract Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1 , SEPN1 , RYR1 and TPM3 genes. We report the…”
Get full text

P75 Exome sequencing identifies EPG5 mutations in two siblings with a childhood onset vacuolar myopathy by Whyte, T, Cullup, T, Robb, S, Sewry, C, Jungbluth, H, Muntoni, F

Get full text

OP81 – 2242: Genetic diagnosis in early infantile epileptic encephalopathy and severe neurodevelopmental delay using a gene panel: Our experience and results so far by Trump, N, McTague, A, Kurian, M, Papandreou, A, Cullup, T, Boustred, C, Gomez, B, Jenkins, L, Scott, R

“…Objective The early infantile epileptic encephalopathy (EIEE) syndromes are a heterogeneous group of conditions characterised by intractable seizures and…”
Get full text

A.P.12 by Whyte, T, Byrne, S, Kho, A.L, Cullup, T, Robb, S, Sewry, C, Bodi, I, Hart, N, Howard, R, Gautel, M, Muntoni, F, Jungbluth, H

“…Autophagy is a fundamental cellular degradative pathway and involves several tightly regulated steps conserved throughout evolution. We have recently…”
Get full text

P3.38 X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene by Trump, N, Cullup, T, Muntoni, F, Verheij, J, Jungbluth, H

Get full text

A.P.11 by Byrne, S, Bodi, I, Sewry, C, Goebel, H.H, Lidov, H, Dionisi-Vici, C, Rogers, R.C, Manchester, D, Al-Owain, M, Said, E, Pilz, D, Ryan, M, Lourence, C. Marques, Manzur, A.Y, Robb, S.A, Cullup, T, Whyte, T, Muntoni, F, Gautel, M, Jungbluth, H

“…Autophagy is a highly conserved cellular degradative pathway that includes several tightly regulated steps, evolving from the initial formation of phagophores…”
Get full text

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10 by Trump, N, Cullup, T, Verheij, J.B.G.M, Manzur, A, Muntoni, F, Abbs, S, Jungbluth, H

“…Abstract X-linked myotubular myopathy is a predominantly severe congenital myopathy with central nuclei on muscle biopsy due to mutations in the MTM1 gene…”
Get full text

G.P.214 by Hu, Y, Donkervoot, S, Stojkovic, T, Voermans, N, Foley, A.R, Leach, M, Dastgir, J, Bolduc, V, Cullup, T, Becdelièvre, A, Yang, L, Su, H, Meilleur, K, Schindler, A, Kamsteeg, E, Richard, P, Butterfield, R, Winder, T, Crawford, T, Weiss, R, Muntoni, F, Allamand, V, Bönnemann, C

“…Collagen VI-related dystrophies and myopathies (COL6-RD) are a highly variable group of disorders that form a phenotypic spectrum ranging from severe Ullrich…”
Get full text

Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer by Van Trappen, P.O, Cullup, T, Troke, R, Swann, D, Shepherd, J.H, Jacobs, I.J, Gayther, S.A, Mein, C.A

“…Abstract Objective To date, most mtDNA mutations in cancer have been identified in the control region (D-loop) containing the major promoters. However, almost…”
Get full text

P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing by Scoto, M, Cullup, T, Cirak, S, Yau, M, Feng, L, Manzur, A, Jungbluth, H, Abbs, S, Sewry, C, Muntoni, F

Get full text

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis by Thomas, A.C., Sinclair, C., Mahmud, N., Cullup, T., Mellerio, J.E., Harper, J., Dale, B.A., Turc-Carel, C., Hohl, D., McGrath, J.A., Vahlquist, A., Hellstrom-Pigg, M., Ganemo, A., Metcalfe, K., Mein, C.A., O'Toole, E.A, Kelsell, D.P.

Get full text

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

Get full text

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

Get full text

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

Get full text