Professor Sandra Cooper

Professor (Level E)
NHMRC Senior Research Fellow
Paediatrics &
Child Health, Children's Hospital, Westmead

Member of the Brain and Mind Centre

Telephone +61 2 9845 0507
Fax +61 2 9845 3078

Website Honours in Medical Sciences at Westmead

Map

Biographical details

Professor Sandra Cooper is an NHMRC Senior Research Fellow (2018 - 2022) with a background in neuroscience and genomics. She completed a BSc Hons I at the University of Otago, New Zealand, with PhD and postdoctoral training from University College London.

She re-located from London to Sydney as postdoctoral protégé of Professor Kathryn North in 2000, and developed her own research group in 2005. Professor Cooper is now Joint Head and Scientific Director of Kids Neuroscience Centre; a group of ~50 clinician and fundamental researchers devoted to understanding the causes, consequences and therapies for families with children suffering from nerve, muscle or brain disorders. She holds joint research positions at the University of Sydney, Kids Research (SCHN) and the Children's Medical Research Institute.

Research interests

Within Kids Neuroscience Centre, Prof Cooper leads two interconnected research themes via the Genomic Medicine and Disease Mechanism and Therapies groups.

Over the last five years, Prof Cooper’s Genomic Medicine team have been working closely with KNC alumni A/Prof Daniel MacArthur (The Broad Institute of Harvard and MIT) and A/Prof Monkol Lek (Yale School of Medicine) to harness latest innovations in genomics to find genetic answers for Australasian families with inherited nerve, muscle or brain disorders. This research has provided a precise genetic diagnosis for 61 % (132/214) families with genetic neuromuscular conditions, who otherwise would not have an informative genetic explanation for their condition.

In order to achieve a diagnosis for our remaining undiagnosed families, we look to lessons learnt from the diagnosed cohort. We expected families pre-screened for common causes of neuromuscular disorders to be enriched for novel disease genes. However, novel disease genes account for only 5% of diagnosed families; we instead commonly identified ‘tricky’ variants in known disease genes that had been missed. Importantly, one third of our 132 diagnosed families (45/132) are now shown to bear (at least) one causal variant that disrupts mRNA splicing. Therefore, a current major focus of Prof Cooper’s research is the development of informatics and technical pipelines to detect, and confirm the splice-altering behaviour of, causative splicing variants in genetic disorders.

Prof Cooper also leads the Disease Mechanism and Therapies group. This research is closely linked to real-life families with neuromuscular disorders, using their genetic variants as a key to unlock core mechanistic pathways causing disease. The overarching goal of her mechanistic research program is to focus on core stress response pathways shared by common disorders (redox distress, membrane repair with injury, protein misfolding and aggregation) - with the vision to highlight clinical utility of therapies developed for common disorders, for our families with rare disorders.

Teaching and supervision

Prof Cooper is a full-time researcher. She holds a strong track record in successful postgraduate student supervision. She is primary supervisor to three full-time PhD students (3 biomedical PhD, one informatics PhD) and associate supervisor of one clinician PhD. She has previously led 11 PhD projects to successful completions as primary supervisor. Each completed student has contributed 3-9 high quality research publications within their PhD theses, and received awards at national and international conferences. These impressive research achievements reflect both the capabilities of her students and the environment of research excellence within Kids Neuroscience Centre. Her PhD graduates have attracted competitive NHMRC ECR fellowships (2014, 2016), American-Australian Association fellowship (2013), a NZ Health Research Council Practitioner Fellowship (2016) and US MDA Development Grant (2018).

Professor Cooper’s research programs within Kids Neuroscience Centre provide an excellent opportunity for PhD training in translational genomics and neuroscience.

Current research students

Project title Research student
Splicing Diagnostics: Optimising use of readily available biospecimens to diagnose impact of splice variants in rare genetic disorders Adam BOURNAZOS
Translating splicing variants into clinical genomics for patients with rare neuromuscular disorders. Sam BRYEN
Novel genomics informatics pipelines to predict and detect disease-causing variants in rare disease. Ruby DAWES

Current projects

Project #1: Disease Gene Discovery, Bioinformatics and Diagnosis for families with inherited neuromuscular Disorders

Sadly, for many patients with inherited neuromuscular disorders, the genetic basis of their disease is unknown. Obtaining a precise genetic diagnosis is the single most important requirement for families affected by genetic conditions to receive personalized medical care, to be eligible for clinical trials, and to enable family planning. Kids Neuroscience Centre is working with the Broad Institute at MIT/Harvard to harness the latest innovations in genomic medicine to identify the genetic changes causing disease for our families with rare, nerve and muscle disorders. This project will involve working with our clinical team at the Children’s Hospital at Westmead and bioinformatics analyses of genomic sequencing data – in the hunt to track down the causal genetic variant(s) underlying a family’s inherited condition.

Location:Kids Neuroscience Centre at The Children’s Hospital at Westmead

Desired skills:genetics, mathematics or data science, biology or physiology.

Personal attributes:passionate about medical science, team player, independent thinker, good analytical skills, and capacity for critical reasoning.

Project #2: Splicing variants and our non-coding genome: a new frontier in clinical genomics.

Our research is revealing that genetic variants that affect mRNA splicing are a more common cause of genetic conditions than previously appreciated. One-third of our diagnosed families (45/214) are now shown to bear a splicing variant – which account 86 % of diagnoses made for families who remained undiagnosed following whole exome sequencing. It is extremely likely that many among our undiagnosed families have a splicing variant in a disease gene we already know about. Muscle and nerve express many of our bodies ‘extreme genes’ - vital proteins encoded by some of the biggest genes, genes with the most exons, genes with enormous introns and subject to complex splicing. It is no wonder they are disease genes. This project will deploy new innovations to detect and confirm tricky causative splicing variants.

Splicing is a form of RNA processing where introns are removed and exons fused together to make the mature mRNA encoding different protein isoforms. Splicing is catalyzed by the spliceosome, a large, multi-component RNA-protein complex that dynamically assembles into different super-complexes to precisely excise intronic sequences and ligate adjacent exons together. Although common, as splicing variants predominantly affect our non-coding genome, putative splice variants are incredibly difficult to detect, interpret, or act on clinically.

Location:Kids Neuroscience Centre at The Children’s Hospital at Westmead

Desired skills:There are two opportunities for projects that requires slightly different skills:

a) Data-oriented project: mathematics, informatics, data science – with knowledge of genetics

b) Laboratory-based splicing studies: genetics, molecular biology, PCR, cell culture

c) A bit of both above

Personal attributes:passionate about medical science, team player, independent thinker, good analytical skills, and capacity for critical reasoning.

Project #3:To find the redox substrate(s) of a new myopathy disease gene called PYROXD1 that is vital for cellular life.

We have identified a new gene called PYROXD1 that is associated with an early–onset myopathy in children. PYROXD1 is an oxidoreductase – enzymes that reduce the oxidised form of other key enzymes, proteins or metabolites. PYROXD1 myopathy is fascinating in that the muscle biopsies of affected individuals harbour every pathological feature associated with the myopathies. This tells us that whatever PYROXD1 reduces, is somehow linked to development of each of the pathological hallmarks in the myopathies (protein aggregates, mitochondrial dysfunction, abnormal internalised nuclei), with many similarities to pathological features of neurodegenerative disorders. The problem is, we have no idea what PYROXD1 redox substrates are; we only know that if you knock-out PYROXD1, cells are unable to survive. So whatever PYROXD1 reduces, no other oxidoreductase can, and we need it to survive. Ours was the first paper in Pubmed to describe PYROXD1; it is very rare to find something utterly uncharacterised in 2016, and this gene is essential for life. We want to study how PYROXD1 responds to oxidative stress, where it goes, and which substrates it regulates the redox state of that cells cannot live without.

Location:Kids Neuroscience Centre at The Children’s Hospital at Westmead

Desired skills:biochemistry, molecular biology, cell biology

Personal attributes:passionate about medical science, team player, independent thinker, good analytical skills, and capacity for critical reasoning.

Selected grants

2019

  • Making sense of splice variants in rare disease for precision and preventative medicine; Cooper S; Department of Health (Federal)/MRFF - Rapid Applied Research Translation (RART) - Sydney Health Partners.

2018

  • Translating innovations in Genomic Medicine for diagnosis and treatment for families with rare Neuromuscular disorders.; Cooper S; National Health and Medical Research Council (NHMRC)/Research Fellowships.
  • PYROXD1 - A novel myopathy disease gene identifies a redox pathway essential for life; Graham M, Cooper S, Tam P, Tam P, Graham M; National Health and Medical Research Council (NHMRC)/Project Grants.

2017

  • Bridging Support Fellowship - Cooper; Cooper S; DVC Research/Bridging Support Fellowship.

2016

  • Barocycler Pressure Cycling Technology; Robinson P, Reddel R, Byrne J, Cooper S, deFazio A; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Dysferlin and the emergency vesicle fusion of membrane repair; Cooper S; National Health and Medical Research Council (NHMRC)/Project Grants.

2015

  • Identifying disease genes for neurogenetic disorders using next generation sequencing; Cooper S, Clarke N; National Health and Medical Research Council (NHMRC)/Project Grants.

2013

  • Dysferlinopathy: A genetic disease sheds light on membrane repair for muscle and cardiac injury; Cooper S, North K, Egan J; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Dysferlin coordinates membrane repair for skeletal and cardiac injury; Cooper S; National Health and Medical Research Council (NHMRC)/Career Development Fellowships.

2012

  • Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.; Christodoulou J, Cooper S; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • Improving the genetic diagnosis of neuromuscular diseases; Dale R, Christodoulou J, Brilot-Turville F, Yang N, Clarke N, Cooper S; Rebecca L Cooper Medical Research Foundation/Equipment Grant.
  • The BD Influx High Speed Cell Sorter; Cunningham A, George J, Rizos H, Clarke C, Reddel R, Kefford R, North K, Stewart G, Jones C, Tam P, Alexander S, Gottlieb D, Bradstock K, Bryan T, Booth D, Bendall L, Brilot-Turville F, Hebbard L, Cooper S, Wang Y, Wang X; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2009

  • The role of dysferlin in muscular dystrophy and membrane repair; Cooper S, North K; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications

Download citations: PDF RTF Endnote

Book Chapters

  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012). Diagnosis of the Muscular Dystrophies. In Madhuri Hegde and Arunkanth Ankala (Eds.), Muscular Dystrophy, (pp. 261-288). Rijeka, Croatia: InTech Publishers. [More Information]
  • North, K., Cooper, S. (2006). Protein diagnosis in the dystrophinopathies. In Jeffrey S. Chamberlain, Thomas A. Rando (Eds.), Duchenne muscular dystrophy: advances in Therapeutics, (pp. 105-118). United States of America: Taylor & Francis.

Journals

  • Dawes, R., Lek, M., Cooper, S. (2019). Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. npj Genomic Medicine, 4, 1-11. [More Information]
  • Oates, E., Jones, K., Donkervoort, S., Charlton, A., Brammah, S., Smith III, J., Ware, J., Yau, K., Swanson, L., Whiffin, N., Peduto, A., Bournazos, A., Waddell, L., Fitzsimons, R., O'Grady, G., Sandaradura, S., Ghaoui, R., Cooper, S., Clarke, N., et al (2018). Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology, 83(6), 1106-1124. [More Information]
  • Summers, M., Rupasinghe, T., Vasiljevski, E., Evesson, F., Mikulec, K., Peacock, L., Quinlan, K., Cooper, S., Roessner, U., Stevenson, D., Little, D., Schindeler, A. (2018). Dietary intervention rescues myopathy associated with neurofibromatosis type 1. Human Molecular Genetics, 27(4), 577-588. [More Information]
  • Sandaradura, S., Bournazos, A., Mallawaarachchi, A., Cummings, B., Waddell, L., Jones, K., Troedson, C., Sudarsanam, A., Nash, B., Peters, G., Cooper, S., et al (2018). Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive�TNNT3�splice variant. Human Mutation, 39(3), 383-388. [More Information]
  • Mulroy, E., Ghaoui, R., Hutchinson, D., Rodrigues, M., Lek, M., MacArthur, D., Cooper, S., Clarke, N., Roxburgh, R. (2017). A 'limb-girdle muscular dystrophy' responsive to asthma therapy. Practical Neurology, 17(4), 327-331. [More Information]
  • Cooper, S. (2017). Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair. Science Signaling, 10(495), 1-3. [More Information]
  • Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D., Davis, M., Laing, N., Clarke, N., Burns, J., Cooper, S., Sandaradura, S., O'Grady, G., et al (2017). Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. npj Genomic Medicine, 2(4), 1-7. [More Information]
  • Piper, A., Ross, S., Redpath, G., Lemckert, F., Woolger, N., Bournazos, A., Greer, P., Sutton, R., Cooper, S. (2017). Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling. Cellular Signalling, 33, 30-40. [More Information]
  • Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture, 56, 89-94. [More Information]
  • Cummings, B., Marshall, J., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A., Bolduc, V., Waddell, L., Sandaradura, S., O'Grady, G., Bournazos, A., Oates, E., Ghaoui, R., Clarke, N., Cooper, S., et al (2017). Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine, 9(386), 1-11. [More Information]
  • Woolger, N., Bournazos, A., Sophocleous, R., Evesson, F., Lek, A., Driemer, B., Sutton, B., Cooper, S. (2017). Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P. Journal of Biological Chemistry, 292(45), 18577-18591. [More Information]
  • O'Grady, G., Lek, M., Lamande, S., Waddell, L., Oates, E., Punetha, J., Ghaoui, R., Sandaradura, S., Best, H., Kaur, S., Clarke, N., Cooper, S., et al (2016). Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals of Neurology, 80(1), 101-111. [More Information]
  • Sinmaz, N., Tea, F., Pilli, D., Zou, A., Amatoury, M., Nguyen, T., Merheb, V., Ramanathan, S., Cooper, S., Dale, R., Brilot-Turville, F. (2016). 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. Acta Neuropathologica Communications, 4, 1-18. [More Information]
  • Redpath, G., Sophocleous, R., Turnbull, L., Whitchurch, C., Cooper, S. (2016). Ferlins show tissue-specific expression and segregate as plasma membrane/late endosomal or trans-olgi/recycling ferlins. Traffic (Malden), 17(3), 245-266. [More Information]
  • Lemckert, F., Bournazos, A., Eckert, D., Kenzler, M., Hawkes, J., Butler, T., Ceely, B., North, K., Winlaw, D., Egan, J., Cooper, S. (2016). Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. Cardiovascular Research, 110(2), 178-187. [More Information]
  • Serebryannyy, L., Yuen, M., Parilla, M., Cooper, S., De Lanerolle, P. (2016). The effects of disease models of nuclear actin polymerization on the nucleus. Frontiers in Physiology, 7, 1-11. [More Information]
  • Ghaoui, R., Benavides, T., Lek, M., Waddell, L., Kaur, S., North, K., MacArthur, D., Clarke, N., Cooper, S. (2016). TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscular Disorders, 26(8), 500-503. [More Information]
  • O'Grady, G., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J., Pride, N., Best, H., Benavides Damm, T., Turner, C., North, K., Clarke, N., Cooper, S., et al (2016). Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology, 87(14), 1442-1448. [More Information]
  • O'Grady, G., Best, H., Sztal, T., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Peduto, A., Reddel, S., Clarke, N., Cooper, S., et al (2016). Variants in the Oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. American Journal of Human Genetics, 99(5), 1086-1105. [More Information]
  • Riley, L., Rudinger-Thirion, J., Schmitz-Abe, K., Thorburn, D., Davis, R., Teo, J., Arbuckle, S., Cooper, S., Campagna, D., Frugier, M., Sue, C., Christodoulou, J., et al (2015). LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Reports, 28, 49-57. [More Information]
  • Cooper, S., Head, S. (2015). Membrane Injury and Repair in the Muscular Dystrophies. Neuroscientist, 21(6), 653-668. [More Information]
  • Cooper, S., McNeil, P. (2015). Membrane Repair: Mechanisms and Pathophysiology. Physiological Reviews, 95(4), 1205-1240. [More Information]
  • Yuen, M., Cooper, S., Marston, S., Nowak, K., McNamara, E., Mokbel, N., Ilkovski, B., Ravenscroft, G., Rendu, J., de Winter, J., North, K., Clarke, N., et al (2015). Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics, 24(22), 6278-9622. [More Information]
  • Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]
  • Hayles, E., Cooper, S., Wood, N., Skinner, R., Sinn, J. (2015). Pertussis Booster Vaccination in Pregnancy: Women Who had it Compared to Those Who Waited. Procedia in Vaccinology, 9, 59-65. [More Information]
  • Ghaoui, R., Cooper, S., Lek, M., Jones, K., Corbett, A., Reddel, S., Needham, M., Liang, C., Waddell, L., Nicholson, G., O'Grady, G., Kaur, S., Sue, C., Clarke, N., et al (2015). Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology, 72(12), 1424-1432. [More Information]
  • Sztal, T., Zhao, M., Williams, C., Oorschot, V., Parslow, A., Giousoh, A., Yuen, M., Hall, T., Costin, A., Ramm, G., Cooper, S., et al (2015). Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathologica, 130(3), 389-406. [More Information]
  • Fuson, K., Rice, A., Mahling, R., Snow, A., Nayak, K., Shanbhogue, P., Meyer, A., Redpath, G., Hinderliter, A., Cooper, S., et al (2014). Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair. Structure, 22(1), 104-115. [More Information]
  • Redpath, G., Woolger, N., Piper, A., Lemckert, F., Lek, A., Greer, P., North, K., Cooper, S. (2014). Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair. Molecular Biology of the Cell, 25(19), 3037-3048. [More Information]
  • Miller, D., Menezes, M., Simons, C., Riley, L., Cooper, S., Grimmond, S., Thorburn, D., Christodoulou, J., Taft, R. (2014). Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PloS One, 9(8), 1-6. [More Information]
  • Lek, A., Evesson, F., Lemckert, F., Redpath, G., Lueders, A., Turnbull, L., Whitchurch, C., North, K., Cooper, S. (2013). Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair. Journal of Neuroscience, 33(12), 5085-5094. [More Information]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Oiger de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Cooper, S., Christodoulou, J., et al (2013). Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. American Journal of Human Genetics, 93(2), 384-389. [More Information]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]
  • Lek, A., Evesson, F., Sutton, B., North, K., Cooper, S. (2012). Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. Traffic (Malden), 13(2), 185-194. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., North, K., Cooper, S., et al (2011). Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch. Journal of Neuropathology and Experimental Neurology, 70(4), 302-313. [More Information]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Cooper, S., North, K., et al (2011). Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies. Neuromuscular Disorders, 21(3), 194-203. [More Information]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011). Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle and Nerve, 44(2), 280-282. [More Information]
  • Vandebrouck, A., Domazetovska, A., Mokbel, N., Cooper, S., Ilkovski, B., North, K. (2010). In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies. Journal of Neuropathology and Experimental Neurology, 69(5), 429-441. [More Information]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giege, R., Christodoulou, J., et al (2010). Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome. American Journal of Human Genetics, 87(1), 52-59. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., North, K., et al (2010). Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. Human Mutation, 31(7), E1544-E1550. [More Information]
  • Evesson, F., Peat, R., Lek, A., Brilot-Turville, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010). Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway. Journal of Biological Chemistry, 285(37), 28529-28539. [More Information]
  • Egan, J., Butler, T., Cole, A., Abraham, S., Murala, J., Baines, D., Street, N., Thompson, L., Biecker, O., Dittmer, J., Cooper, S., Au, C., North, K., Winlaw, D. (2009). Myocardial membrane injury in pediatric cardiac surgery: An animal model. Journal of Thoracic and Cardiovascular Surgery, 137(5), 1154-1162. [More Information]
  • Au, C., Butler, T., Egan, J., Cooper, S., Lo, H., Compton, A., North, K., Winlaw, D. (2008). Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta Neuropathologica, 116(3), 235-246. [More Information]
  • Ilkovski, B., Mokbel, N., Lewis, R., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V., North, K., Cooper, S. (2008). Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy. Journal of Neuropathology and Experimental Neurology, 67(9), 867-877. [More Information]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., MacArthur, D., North, K., et al (2008). Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18(1), 34-44. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (2008). Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American Journal of Human Genetics, 83(6), 714-724. [More Information]
  • Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007). Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular Disorders, 17(4), 276-284. [More Information]
  • Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007). Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology, 62(6), 597-608. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007). Mechanisms underlying intranuclear rod formation. Brain, 130(12), 3275-3284. [More Information]
  • Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007). The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology, 61(6), 552-561. [More Information]
  • Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006). Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics, 15(1), 129-142. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006). Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders, 16(Sup. 1), S60-S61.
  • Corbett, M., Akkari, A., Domazetovska, A., Cooper, S., North, K., Laing, N., Gunning, P., Hardeman, E. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Annals of Neurology, 57(1), 42-49. [More Information]
  • Ilkovski, B., Clement, S., Sewry, C., North, K., Cooper, S. (2005). Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders, 15(12), 829-835. [More Information]
  • Compton, A., Cooper, S., Hill, P., Yang, N., Froehner, S., North, K. (2005). The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology, 64(4), 350-361. [More Information]
  • Allen, D., Hardeman, E., North, K., Alexander, I., Cooper, S., Maxwell, A., Kizana, E., Ghoddusi, M. (2004). C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression. Cell Motility and the Cytoskeleton, 58(3), 200-211. [More Information]
  • North, K., Nowak, K., Cooper, S., Maxwell, A., Clement, S., Davies, K., Laing, N., Ilkovski, B., Domazetovska, A. (2004). Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms. Human Molecular Genetics, 13(16), 1727-1743. [More Information]
  • North, K., Winlaw, D., Cooper, S., Au, C., Yang, N., Lo, H., Compton, A., Wintour, M. (2004). Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle. Journal of Molecular and Cellular Cardiology, 36(5), 655-662. [More Information]
  • Cooper, S., Lo, S., North, K. (2003). Single section Western blot. Improving the molecular diagnosis of the muscular dystrophies. Neurology, 61(1), 93-97. [More Information]

2019

  • Dawes, R., Lek, M., Cooper, S. (2019). Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. npj Genomic Medicine, 4, 1-11. [More Information]

2018

  • Oates, E., Jones, K., Donkervoort, S., Charlton, A., Brammah, S., Smith III, J., Ware, J., Yau, K., Swanson, L., Whiffin, N., Peduto, A., Bournazos, A., Waddell, L., Fitzsimons, R., O'Grady, G., Sandaradura, S., Ghaoui, R., Cooper, S., Clarke, N., et al (2018). Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology, 83(6), 1106-1124. [More Information]
  • Summers, M., Rupasinghe, T., Vasiljevski, E., Evesson, F., Mikulec, K., Peacock, L., Quinlan, K., Cooper, S., Roessner, U., Stevenson, D., Little, D., Schindeler, A. (2018). Dietary intervention rescues myopathy associated with neurofibromatosis type 1. Human Molecular Genetics, 27(4), 577-588. [More Information]
  • Sandaradura, S., Bournazos, A., Mallawaarachchi, A., Cummings, B., Waddell, L., Jones, K., Troedson, C., Sudarsanam, A., Nash, B., Peters, G., Cooper, S., et al (2018). Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive�TNNT3�splice variant. Human Mutation, 39(3), 383-388. [More Information]

2017

  • Mulroy, E., Ghaoui, R., Hutchinson, D., Rodrigues, M., Lek, M., MacArthur, D., Cooper, S., Clarke, N., Roxburgh, R. (2017). A 'limb-girdle muscular dystrophy' responsive to asthma therapy. Practical Neurology, 17(4), 327-331. [More Information]
  • Cooper, S. (2017). Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair. Science Signaling, 10(495), 1-3. [More Information]
  • Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D., Davis, M., Laing, N., Clarke, N., Burns, J., Cooper, S., Sandaradura, S., O'Grady, G., et al (2017). Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. npj Genomic Medicine, 2(4), 1-7. [More Information]
  • Piper, A., Ross, S., Redpath, G., Lemckert, F., Woolger, N., Bournazos, A., Greer, P., Sutton, R., Cooper, S. (2017). Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling. Cellular Signalling, 33, 30-40. [More Information]
  • Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture, 56, 89-94. [More Information]
  • Cummings, B., Marshall, J., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A., Bolduc, V., Waddell, L., Sandaradura, S., O'Grady, G., Bournazos, A., Oates, E., Ghaoui, R., Clarke, N., Cooper, S., et al (2017). Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine, 9(386), 1-11. [More Information]
  • Woolger, N., Bournazos, A., Sophocleous, R., Evesson, F., Lek, A., Driemer, B., Sutton, B., Cooper, S. (2017). Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P. Journal of Biological Chemistry, 292(45), 18577-18591. [More Information]

2016

  • O'Grady, G., Lek, M., Lamande, S., Waddell, L., Oates, E., Punetha, J., Ghaoui, R., Sandaradura, S., Best, H., Kaur, S., Clarke, N., Cooper, S., et al (2016). Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals of Neurology, 80(1), 101-111. [More Information]
  • Sinmaz, N., Tea, F., Pilli, D., Zou, A., Amatoury, M., Nguyen, T., Merheb, V., Ramanathan, S., Cooper, S., Dale, R., Brilot-Turville, F. (2016). 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. Acta Neuropathologica Communications, 4, 1-18. [More Information]
  • Redpath, G., Sophocleous, R., Turnbull, L., Whitchurch, C., Cooper, S. (2016). Ferlins show tissue-specific expression and segregate as plasma membrane/late endosomal or trans-olgi/recycling ferlins. Traffic (Malden), 17(3), 245-266. [More Information]
  • Lemckert, F., Bournazos, A., Eckert, D., Kenzler, M., Hawkes, J., Butler, T., Ceely, B., North, K., Winlaw, D., Egan, J., Cooper, S. (2016). Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. Cardiovascular Research, 110(2), 178-187. [More Information]
  • Serebryannyy, L., Yuen, M., Parilla, M., Cooper, S., De Lanerolle, P. (2016). The effects of disease models of nuclear actin polymerization on the nucleus. Frontiers in Physiology, 7, 1-11. [More Information]
  • Ghaoui, R., Benavides, T., Lek, M., Waddell, L., Kaur, S., North, K., MacArthur, D., Clarke, N., Cooper, S. (2016). TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscular Disorders, 26(8), 500-503. [More Information]
  • O'Grady, G., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J., Pride, N., Best, H., Benavides Damm, T., Turner, C., North, K., Clarke, N., Cooper, S., et al (2016). Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology, 87(14), 1442-1448. [More Information]
  • O'Grady, G., Best, H., Sztal, T., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Peduto, A., Reddel, S., Clarke, N., Cooper, S., et al (2016). Variants in the Oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. American Journal of Human Genetics, 99(5), 1086-1105. [More Information]

2015

  • Riley, L., Rudinger-Thirion, J., Schmitz-Abe, K., Thorburn, D., Davis, R., Teo, J., Arbuckle, S., Cooper, S., Campagna, D., Frugier, M., Sue, C., Christodoulou, J., et al (2015). LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Reports, 28, 49-57. [More Information]
  • Cooper, S., Head, S. (2015). Membrane Injury and Repair in the Muscular Dystrophies. Neuroscientist, 21(6), 653-668. [More Information]
  • Cooper, S., McNeil, P. (2015). Membrane Repair: Mechanisms and Pathophysiology. Physiological Reviews, 95(4), 1205-1240. [More Information]
  • Yuen, M., Cooper, S., Marston, S., Nowak, K., McNamara, E., Mokbel, N., Ilkovski, B., Ravenscroft, G., Rendu, J., de Winter, J., North, K., Clarke, N., et al (2015). Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics, 24(22), 6278-9622. [More Information]
  • Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]
  • Hayles, E., Cooper, S., Wood, N., Skinner, R., Sinn, J. (2015). Pertussis Booster Vaccination in Pregnancy: Women Who had it Compared to Those Who Waited. Procedia in Vaccinology, 9, 59-65. [More Information]
  • Ghaoui, R., Cooper, S., Lek, M., Jones, K., Corbett, A., Reddel, S., Needham, M., Liang, C., Waddell, L., Nicholson, G., O'Grady, G., Kaur, S., Sue, C., Clarke, N., et al (2015). Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology, 72(12), 1424-1432. [More Information]
  • Sztal, T., Zhao, M., Williams, C., Oorschot, V., Parslow, A., Giousoh, A., Yuen, M., Hall, T., Costin, A., Ramm, G., Cooper, S., et al (2015). Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathologica, 130(3), 389-406. [More Information]

2014

  • Fuson, K., Rice, A., Mahling, R., Snow, A., Nayak, K., Shanbhogue, P., Meyer, A., Redpath, G., Hinderliter, A., Cooper, S., et al (2014). Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair. Structure, 22(1), 104-115. [More Information]
  • Redpath, G., Woolger, N., Piper, A., Lemckert, F., Lek, A., Greer, P., North, K., Cooper, S. (2014). Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair. Molecular Biology of the Cell, 25(19), 3037-3048. [More Information]
  • Miller, D., Menezes, M., Simons, C., Riley, L., Cooper, S., Grimmond, S., Thorburn, D., Christodoulou, J., Taft, R. (2014). Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PloS One, 9(8), 1-6. [More Information]

2013

  • Lek, A., Evesson, F., Lemckert, F., Redpath, G., Lueders, A., Turnbull, L., Whitchurch, C., North, K., Cooper, S. (2013). Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair. Journal of Neuroscience, 33(12), 5085-5094. [More Information]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Oiger de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Cooper, S., Christodoulou, J., et al (2013). Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. American Journal of Human Genetics, 93(2), 384-389. [More Information]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]

2012

  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012). Diagnosis of the Muscular Dystrophies. In Madhuri Hegde and Arunkanth Ankala (Eds.), Muscular Dystrophy, (pp. 261-288). Rijeka, Croatia: InTech Publishers. [More Information]
  • Lek, A., Evesson, F., Sutton, B., North, K., Cooper, S. (2012). Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. Traffic (Malden), 13(2), 185-194. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]

2011

  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., North, K., Cooper, S., et al (2011). Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch. Journal of Neuropathology and Experimental Neurology, 70(4), 302-313. [More Information]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Cooper, S., North, K., et al (2011). Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies. Neuromuscular Disorders, 21(3), 194-203. [More Information]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011). Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle and Nerve, 44(2), 280-282. [More Information]

2010

  • Vandebrouck, A., Domazetovska, A., Mokbel, N., Cooper, S., Ilkovski, B., North, K. (2010). In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies. Journal of Neuropathology and Experimental Neurology, 69(5), 429-441. [More Information]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giege, R., Christodoulou, J., et al (2010). Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome. American Journal of Human Genetics, 87(1), 52-59. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., North, K., et al (2010). Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. Human Mutation, 31(7), E1544-E1550. [More Information]
  • Evesson, F., Peat, R., Lek, A., Brilot-Turville, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010). Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway. Journal of Biological Chemistry, 285(37), 28529-28539. [More Information]

2009

  • Egan, J., Butler, T., Cole, A., Abraham, S., Murala, J., Baines, D., Street, N., Thompson, L., Biecker, O., Dittmer, J., Cooper, S., Au, C., North, K., Winlaw, D. (2009). Myocardial membrane injury in pediatric cardiac surgery: An animal model. Journal of Thoracic and Cardiovascular Surgery, 137(5), 1154-1162. [More Information]

2008

  • Au, C., Butler, T., Egan, J., Cooper, S., Lo, H., Compton, A., North, K., Winlaw, D. (2008). Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta Neuropathologica, 116(3), 235-246. [More Information]
  • Ilkovski, B., Mokbel, N., Lewis, R., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V., North, K., Cooper, S. (2008). Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy. Journal of Neuropathology and Experimental Neurology, 67(9), 867-877. [More Information]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., MacArthur, D., North, K., et al (2008). Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18(1), 34-44. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (2008). Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American Journal of Human Genetics, 83(6), 714-724. [More Information]

2007

  • Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007). Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular Disorders, 17(4), 276-284. [More Information]
  • Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007). Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology, 62(6), 597-608. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007). Mechanisms underlying intranuclear rod formation. Brain, 130(12), 3275-3284. [More Information]
  • Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007). The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology, 61(6), 552-561. [More Information]

2006

  • Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006). Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics, 15(1), 129-142. [More Information]
  • North, K., Cooper, S. (2006). Protein diagnosis in the dystrophinopathies. In Jeffrey S. Chamberlain, Thomas A. Rando (Eds.), Duchenne muscular dystrophy: advances in Therapeutics, (pp. 105-118). United States of America: Taylor & Francis.
  • Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006). Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders, 16(Sup. 1), S60-S61.

2005

  • Corbett, M., Akkari, A., Domazetovska, A., Cooper, S., North, K., Laing, N., Gunning, P., Hardeman, E. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Annals of Neurology, 57(1), 42-49. [More Information]
  • Ilkovski, B., Clement, S., Sewry, C., North, K., Cooper, S. (2005). Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders, 15(12), 829-835. [More Information]
  • Compton, A., Cooper, S., Hill, P., Yang, N., Froehner, S., North, K. (2005). The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology, 64(4), 350-361. [More Information]

2004

  • Allen, D., Hardeman, E., North, K., Alexander, I., Cooper, S., Maxwell, A., Kizana, E., Ghoddusi, M. (2004). C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression. Cell Motility and the Cytoskeleton, 58(3), 200-211. [More Information]
  • North, K., Nowak, K., Cooper, S., Maxwell, A., Clement, S., Davies, K., Laing, N., Ilkovski, B., Domazetovska, A. (2004). Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms. Human Molecular Genetics, 13(16), 1727-1743. [More Information]
  • North, K., Winlaw, D., Cooper, S., Au, C., Yang, N., Lo, H., Compton, A., Wintour, M. (2004). Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle. Journal of Molecular and Cellular Cardiology, 36(5), 655-662. [More Information]

2003

  • Cooper, S., Lo, S., North, K. (2003). Single section Western blot. Improving the molecular diagnosis of the muscular dystrophies. Neurology, 61(1), 93-97. [More Information]

To update your profile click here. For support on your academic profile contact .