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Items: 1 to 50 of 87

1.

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Bryen SJ, Joshi H, Evesson FJ, Girard C, Ghaoui R, Waddell LB, Testa AC, Cummings B, Arbuckle S, Graf N, Webster R, MacArthur DG, Laing NG, Davis MR, Lührmann R, Cooper ST.

Am J Hum Genet. 2019 Sep 5;105(3):573-587. doi: 10.1016/j.ajhg.2019.07.013. Epub 2019 Aug 22.

PMID:
31447096
2.

Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function.

Girgis CM, Cha KM, So B, Tsang M, Chen J, Houweling PJ, Schindeler A, Stokes R, Swarbrick MM, Evesson FJ, Cooper ST, Gunton JE.

J Cachexia Sarcopenia Muscle. 2019 Jun 21. doi: 10.1002/jcsm.12460. [Epub ahead of print]

3.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST.

Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25.

PMID:
31024060
4.

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

Dawes R, Lek M, Cooper ST.

NPJ Genom Med. 2019 Apr 15;4:8. doi: 10.1038/s41525-019-0081-z. eCollection 2019. Review.

5.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

6.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST.

Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13.

7.

Dietary intervention rescues myopathy associated with neurofibromatosis type 1.

Summers MA, Rupasinghe T, Vasiljevski ER, Evesson FJ, Mikulec K, Peacock L, Quinlan KG, Cooper ST, Roessner U, Stevenson DA, Little DG, Schindeler A.

Hum Mol Genet. 2018 Feb 15;27(4):577-588. doi: 10.1093/hmg/ddx423.

PMID:
29228356
8.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL.

NPJ Genom Med. 2017;2. pii: 4. doi: 10.1038/s41525-017-0006-7. Epub 2017 Mar 3.

9.

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.

Woolger N, Bournazos A, Sophocleous RA, Evesson FJ, Lek A, Driemer B, Sutton RB, Cooper ST.

J Biol Chem. 2017 Nov 10;292(45):18577-18591. doi: 10.1074/jbc.M117.790014. Epub 2017 Sep 13.

10.

Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair.

Cooper ST.

Sci Signal. 2017 Sep 5;10(495). pii: eaao3795. doi: 10.1126/scisignal.aao3795.

PMID:
28874605
11.

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Mulroy E, Ghaoui R, Hutchinson D, Rodrigues M, Lek M, MacArthur DG, Cooper ST, Clarke NF, Roxburgh R.

Pract Neurol. 2017 Aug;17(4):327-331. doi: 10.1136/practneurol-2017-001598. Epub 2017 Apr 22. No abstract available.

PMID:
28433973
12.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

13.

Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling.

Piper AK, Ross SE, Redpath GM, Lemckert FA, Woolger N, Bournazos A, Greer PA, Sutton RB, Cooper ST.

Cell Signal. 2017 May;33:30-40. doi: 10.1016/j.cellsig.2017.02.009. Epub 2017 Feb 10.

14.

Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric disorders.

Sinmaz N, Tea F, Pilli D, Zou A, Amatoury M, Nguyen T, Merheb V, Ramanathan S, Cooper ST, Dale RC, Brilot F.

Acta Neuropathol Commun. 2016 Dec 1;4(1):126.

15.

The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.

Serebryannyy LA, Yuen M, Parilla M, Cooper ST, de Lanerolle P.

Front Physiol. 2016 Oct 7;7:454. eCollection 2016.

16.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST.

Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13.

17.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST.

Neurology. 2016 Oct 4;87(14):1442-1448. Epub 2016 Sep 2.

18.

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST.

Neuromuscul Disord. 2016 Aug;26(8):500-3. doi: 10.1016/j.nmd.2016.05.013. Epub 2016 May 24.

PMID:
27342937
19.

Effects of hibernation on bone marrow transcriptome in thirteen-lined ground squirrels.

Cooper ST, Sell SS, Fahrenkrog M, Wilkinson K, Howard DR, Bergen H, Cruz E, Cash SE, Andrews MT, Hampton M.

Physiol Genomics. 2016 Jul 1;48(7):513-25. doi: 10.1152/physiolgenomics.00120.2015. Epub 2016 May 20.

20.

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

Lemckert FA, Bournazos A, Eckert DM, Kenzler M, Hawkes JM, Butler TL, Ceely B, North KN, Winlaw DS, Egan JR, Cooper ST.

Cardiovasc Res. 2016 May 15;110(2):178-87. doi: 10.1093/cvr/cvw017. Epub 2016 Jan 19.

21.

Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins.

Redpath GM, Sophocleous RA, Turnbull L, Whitchurch CB, Cooper ST.

Traffic. 2016 Mar;17(3):245-66. doi: 10.1111/tra.12370.

22.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J.

JIMD Rep. 2016;28:49-57. Epub 2015 Nov 5.

23.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
24.

Membrane Repair: Mechanisms and Pathophysiology.

Cooper ST, McNeil PL.

Physiol Rev. 2015 Oct;95(4):1205-40. doi: 10.1152/physrev.00037.2014. Review.

25.

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF.

Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24.

26.

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.

Sztal TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ.

Acta Neuropathol. 2015 Sep;130(3):389-406. doi: 10.1007/s00401-015-1430-3. Epub 2015 May 1.

27.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J.

Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.

PMID:
25556185
28.

Membrane Injury and Repair in the Muscular Dystrophies.

Cooper ST, Head SI.

Neuroscientist. 2015 Dec;21(6):653-68. doi: 10.1177/1073858414558336. Epub 2014 Nov 18. Review.

PMID:
25406223
29.

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair.

Redpath GM, Woolger N, Piper AK, Lemckert FA, Lek A, Greer PA, North KN, Cooper ST.

Mol Biol Cell. 2014 Oct 1;25(19):3037-48. doi: 10.1091/mbc.E14-04-0947. Epub 2014 Aug 20.

30.

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

Miller DK, Menezes MJ, Simons C, Riley LG, Cooper ST, Grimmond SM, Thorburn DR, Christodoulou J, Taft RJ.

PLoS One. 2014 Aug 12;9(8):e104879. doi: 10.1371/journal.pone.0104879. eCollection 2014.

31.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J.

Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193.

32.

Alternate splicing of dysferlin C2A confers Ca²⁺-dependent and Ca²⁺-independent binding for membrane repair.

Fuson K, Rice A, Mahling R, Snow A, Nayak K, Shanbhogue P, Meyer AG, Redpath GM, Hinderliter A, Cooper ST, Sutton RB.

Structure. 2014 Jan 7;22(1):104-15. doi: 10.1016/j.str.2013.10.001. Epub 2013 Nov 14.

33.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P.

Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1.

34.

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.

Lek A, Evesson FJ, Lemckert FA, Redpath GM, Lueders AK, Turnbull L, Whitchurch CB, North KN, Cooper ST.

J Neurosci. 2013 Mar 20;33(12):5085-94. doi: 10.1523/JNEUROSCI.3560-12.2013.

35.

The hibernating 13-lined ground squirrel as a model organism for potential cold storage of platelets.

Cooper ST, Richters KE, Melin TE, Liu ZJ, Hordyk PJ, Benrud RR, Geiser LR, Cash SE, Simon Shelley C, Howard DR, Ereth MH, Sola-Visner MC.

Am J Physiol Regul Integr Comp Physiol. 2012 May 15;302(10):R1202-8. doi: 10.1152/ajpregu.00018.2012. Epub 2012 Apr 4.

36.

Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.

Lek A, Evesson FJ, Sutton RB, North KN, Cooper ST.

Traffic. 2012 Feb;13(2):185-94. doi: 10.1111/j.1600-0854.2011.01267.x. Epub 2011 Sep 6. Review.

37.

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF.

Muscle Nerve. 2011 Aug;44(2):280-2. doi: 10.1002/mus.22118.

PMID:
21755510
38.

Endoscopic ultrasound-guided fine-needle aspiration of metastases to the pancreas: A study of 25 cases.

Gilbert CM, Monaco SE, Cooper ST, Khalbuss WE.

Cytojournal. 2011;8:7. doi: 10.4103/1742-6413.79779. Epub 2011 Apr 21.

39.

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, Cooper ST.

J Neuropathol Exp Neurol. 2011 Apr;70(4):302-13. doi: 10.1097/NEN.0b013e31821350b0.

40.

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies.

Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN.

Neuromuscul Disord. 2011 Mar;21(3):194-203. doi: 10.1016/j.nmd.2010.11.015. Epub 2011 Feb 4.

PMID:
21295981
41.

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

Lek A, Lek M, North KN, Cooper ST.

BMC Evol Biol. 2010 Jul 29;10:231. doi: 10.1186/1471-2148-10-231.

42.

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway.

Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST.

J Biol Chem. 2010 Sep 10;285(37):28529-39. doi: 10.1074/jbc.M110.111120. Epub 2010 Jul 1.

43.

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.

Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278.

PMID:
20583297
44.

In vitro analysis of rod composition and actin dynamics in inherited myopathies.

Vandebrouck A, Domazetovska A, Mokbel N, Cooper ST, Ilkovski B, North KN.

J Neuropathol Exp Neurol. 2010 May;69(5):429-41. doi: 10.1097/NEN.0b013e3181d892c6.

PMID:
20418783
45.

EUS-guided rendezvous for the treatment of pancreaticopleural fistula in a patient with chronic pancreatitis and pancreas pseudodivisum.

Cooper ST, Malick J, McGrath K, Slivka A, Sanders MK.

Gastrointest Endosc. 2010 Mar;71(3):652-4. doi: 10.1016/j.gie.2009.08.017. Epub 2009 Nov 4. No abstract available.

PMID:
19892329
46.

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN.

Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.

47.

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

Ilkovski B, Mokbel N, Lewis RA, Walker K, Nowak KJ, Domazetovska A, Laing NG, Fowler VM, North KN, Cooper ST.

J Neuropathol Exp Neurol. 2008 Sep;67(9):867-77. doi: 10.1097/NEN.0b013e318183a44f.

48.

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.

Au CG, Butler TL, Egan JR, Cooper ST, Lo HP, Compton AG, North KN, Winlaw DS.

Acta Neuropathol. 2008 Sep;116(3):235-46. doi: 10.1007/s00401-008-0369-z. Epub 2008 Apr 8.

PMID:
18392839
49.

Mechanisms underlying intranuclear rod formation.

Domazetovska A, Ilkovski B, Cooper ST, Ghoddusi M, Hardeman EC, Minamide LS, Gunning PW, Bamburg JR, North KN.

Brain. 2007 Dec;130(Pt 12):3275-84. Epub 2007 Oct 10.

PMID:
17928315
50.

Mutation of the H-helix in antithrombin decreases heparin stimulation of protease inhibition.

Gonzales PR, Walston TD, Camacho LO, Kielar DM, Church FC, Rezaie AR, Cooper ST.

Biochim Biophys Acta. 2007 Nov;1774(11):1431-7. Epub 2007 Aug 30.

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