Search Results - "CROXEN, REBECCA"

Novel functional ?-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome by Croxen, Rebecca, Newland, Claire, Betty, Maria, Vincent, Angela, Newsom-Davis, John, Beeson, David

Get full text

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria by Spelbrink, Johannes N, Li, Fang-Yuan, Tiranti, Valeria, Nikali, Kaisu, Yuan, Qiu-Ping, Tariq, Muhammed, Wanrooij, Sjoerd, Garrido, Nuria, Comi, Giacomo, Morandi, Lucia, Santoro, Lucio, Toscano, Antonio, Fabrizi, Gian-Maria, Somer, Hannu, Croxen, Rebecca, Beeson, David, Poulton, Joanna, Suomalainen, Anu, Jacobs, Howard T, Zeviani, Massimo, Larsson, Catharina

“…The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial…”
Get full text

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita by Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J P, Vincent, A, Newsom-Davis, J, Beeson, D

“…Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita…”
Get full text

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome by Croxen, Rebecca, Newland, Claire, Beeson, David, Oosterhuis, Hans, Chauplannaz, Guy, Vincent, Angela, Newsom-Davis, John

“…Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular transmission. A subset of these disorders, the slow-channel…”
Get full text

End-plate γ- and ε-subunit mRNA levels in AChR deficiency syndrome due to ε-subunit null mutations by Croxen, Rebecca, Young, Carol, Slater, Clarke, Haslam, Sonya, Brydson, Martin, Vincent, Angela, Beeson, David

“…Acetylcholine receptor (AChR) deficiency is the most common of the congenital myasthenic syndromes (CMS). Typically, the number of AChRs, measured by…”
Get full text

Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome by Nichols, Philip, Croxen, Rebecca, Vincent, Angela, Rutter, Richard, Hutchinson, Michael, Newsom-Davis, John, Beeson, David

“…Congenital myasthenic syndrome comprises a heterogeneous group of inherited disorders of neuromuscular transmission. Acetylcholine receptor (AChR) deficiency…”
Get full text

Myasthenia gravis in a woman with congenital AChR deficiency due to ε-subunit mutations by CROXEN, Rebecca, VINCENT, Angela, NEWSOM-DAVIS, John, BEESON, David

“…A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characteristic of MG. This may be inherited (AChR deficiency…”
Get full text

Genes at the junction – candidates for congenital myasthenic syndromes by Vincent, Angela, Newland, Claire, Croxen, Rebecca, Beeson, David

“…The neuromuscular junction is the site of several myasthenic ( mys,muscle; aesthenia, weakness) disorders of autoimmune and genetic origin. The acquired…”
Get full text

Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome by Croxen, Rebecca, Newland, Claire, Betty, Maria, Vincent, Angela, Newsom-Davis, John, Beeson, David

“…Acetylcholine receptor (AChR) deficiency is a recessively inherited congenital myasthenic syndrome in which fatigable muscle weakness results from impaired…”
Get full text

Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes by BEESON, DAVID, WEBSTER, RICHARD, EALING, JOHN, CROXEN, REBECCA, BROWNLOW, SHARON, BRYDSON, MARTIN, NEWSOM-DAVIS, JOHN, SLATER, CLARKE, HATTON, CHRIS, SHELLEY, CHRIS, COLQUHOUN, DAVID, VINCENT, ANGELA

“…: The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the…”
Get full text

End-plate [gamma]- and [varepsilon]-subunit mRNA levels in AChR deficiency syndrome due to [varepsilon]-subunit null mutations by Croxen, Rebecca, Young, Carol, Slater, Clarke, Haslam, Sonya, Brydson, Martin, Vincent, Angela, Beeson, David

“…Acetylcholine receptor (AChR) deficiency is the most common of the congenital myasthenic syndromes (CMS). Typically, the number of AChRs, measured by…”
Get full text

Comparison of the growth potential of retinal pigment epithelial cells obtained during vitrectomy in patients with age-related macular degeneration or complex retinal detachment by van Meurs, Jan C, ter Averst, Ellen, Croxen, Rebecca, Hofland, Leo, van Hagen, P Martin

Get full text

Mutation of the acetylcholine receptor ?-subunit promoter in congenital myasthenic syndrome by Nichols, Philip, Croxen, Rebecca, Vincent, Angela, Rutter, Richard, Hutchinson, Michael, Newsom-Davis, John, Beeson, David

Get full text

Somatostatin in diabetic retinopathy by Croxen, R, Baarsma, G S, Kuijpers, R W A M, van Hagen, P M

“…Diabetic retinopathy is a leading cause of legal blindness in the adult population (30-70 year olds). The anatomical changes that occur in the retina during…”
Get more information

A Single Nucleotide Deletion in the ɛ Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiency by CROXEN, REBECCA, BEESON, DAVID, NEWLAND, CLAIRE, BETTY, MARIA, VINCENT, ANGELA, NEWSOM-DAVIS, JOHN

Get full text

A Single Nucleotide Deletion in the ɛ Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiencya by CROXEN, REBECCA, BEESON, DAVID, NEWLAND, CLAIRE, BETTY, MARIA, VINCENT, ANGELA, NEWSOM‐DAVIS, JOHN

Get full text

Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci by Li, F, Szobor, A, Croxen, R, Anselmo, V, Yuan, Q P, Lindblad, K, Schalling, M, Komoly, S, Beeson, D, Larsson, C

“…Myasthenia gravis (MG) is a sporadic autoimmune disorder affecting neuromuscular transmission. Very rarely autoimmune myasthenia gravis may be inherited within…”
Get more information

Isolation of an Ustilago maydis gene encoding 3-hydroxy-3-methylglutaryl-coenzyme A reductase and expression of a C-terminal-truncated form in Escherichia coli by Croxen, Rebecca, Goosey, Michael W, Keon, John P. R, Hargreaves, John A

“…1 Shell Research Ltd, Sittingbourne Research Centre, Sittingbourne, Kent ME9 8AG, UK 2 Department of Agricultural Sciences, University of Bristol, Institute of…”
Get full text