S. Cooper

发表

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

K. Bushby, F. Muntoni, L. Waddell, 2010, Human mutation.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

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

K. North, D. Winlaw, A. Compton, 2008, Acta Neuropathologica.

Expression of aquaporin 1 in human cardiac and skeletal muscle.

K. North, E. Wintour, D. Winlaw, 2004, Journal of molecular and cellular cardiology.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

R. Giegé, M. Bahlo, J. Christodoulou, 2010, American journal of human genetics.

Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy.

P. Greer, O. Saleh, F. Evesson, 2020, American journal of physiology. Cell physiology.

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

S. Cooper, 2017, Science Signaling.

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

K. North, K. North, P. Greer, 2014, Molecular biology of the cell.

Cleaved Mini-DysferlinC 72 , and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair

C. Whitchurch, L. Turnbull, K. North, 2013 .

Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair

C. Whitchurch, L. Turnbull, K. North, 2013, The Journal of Neuroscience.

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

K. Bushby, K. North, R. Parton, 2006, Human molecular genetics.

Dietary intervention rescues myopathy associated with neurofibromatosis type 1

Emily R Vasiljevski, U. Roessner, D. Stevenson, 2018, Human molecular genetics.

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

Joseph T. Glessner, Ryan L. Davis, J. Glessner, 2015, Human molecular genetics.

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

D. Stemple, R. Bryson-Richardson, N. Laing, 2015, Acta Neuropathologica.

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness

B. Ilkovski, K. North, M. Peckham, 2007, Annals of neurology.

Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

S. Clément, B. Ilkovski, K. North, 2005, Neuromuscular Disorders.

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

Beryl B. Cummings, D. MacArthur, B. Cummings, 2018, Human mutation.

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

Beryl B. Cummings, D. MacArthur, B. Cummings, 2019, European Journal of Human Genetics.

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

D. MacArthur, K. North, J. Seto, 2008, Neuromuscular Disorders.

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

C. Girgis, F. Evesson, S. Cooper, 2019, Journal of cachexia, sarcopenia and muscle.

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

L. Waddell, K. North, N. Clarke, 2012, Neurology.

The pathogenesis of ACTA1‐related congenital fiber type disproportion

I. Nonaka, B. Ilkovski, N. Clarke, 2007, Annals of neurology.

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

Beryl B. Cummings, D. MacArthur, M. Lek, 2016, American journal of human genetics.

Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway*

K. North, R. Parton, F. Evesson, 2010, The Journal of Biological Chemistry.

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

D. MacArthur, M. Lek, L. Waddell, 2016, Neuromuscular Disorders.

Myocardial membrane injury in pediatric cardiac surgery: An animal model.

K. North, D. Winlaw, S. Cooper, 2009, The Journal of thoracic and cardiovascular surgery.

Single section Western blot

K. North, S. Cooper, H. Lo, 2003, Neurology.

An αtropomyosin mutation alters dimer preference in nemaline myopathy

E. Hardeman, P. Gunning, N. Laing, 2005 .

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

K. North, D. Winlaw, S. Cooper, 2016, Cardiovascular research.

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

R. Dale, S. Cooper, S. Ramanathan, 2016, Acta neuropathologica communications.

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

M. Lek, K. North, S. Cooper, 2010, BMC Evolutionary Biology.

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

K. North, F. Evesson, R B Sutton, 2012, Traffic.

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

A. Meyer, R B Sutton, A. Hinderliter, 2014, Structure.

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

D. MacArthur, M. Lek, N. Clarke, 2016, Neurology.

Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy

B. Ilkovski, N. Laing, V. Fowler, 2008, Journal of neuropathology and experimental neurology.

Mechanisms underlying intranuclear rod formation.

E. Hardeman, P. Gunning, B. Ilkovski, 2007, Brain : a journal of neurology.

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis

E. Kizana, I. Alexander, K. North, 2007, Neuromuscular Disorders.

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre

L. Waddell, M. Menezes, R. Webster, 2022, Neuromuscular Disorders.

In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies

B. Ilkovski, K. North, N. Mokbel, 2010, Journal of neuropathology and experimental neurology.

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

S. Cooper, M. Parilla, P. de Lanerolle, 2016, Front. Physiol..

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

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

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

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

M. Graham, F. Evesson, S. Cooper, 2023, Acta Neuropathologica Communications.

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

K. Davies, S. Clément, B. Ilkovski, 2004, Human molecular genetics.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

E. Hardeman, P. Gunning, B. Ilkovski, 2001, American journal of human genetics.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

E. Hardeman, P. Gunning, B. Ilkovski, 2001, American journal of human genetics.

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

E. Bertini, A. D’Amico, E. Valente, 2011, Neuromuscular Disorders.

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.

S. Clément, B. Ilkovski, K. North, 2005, Neuromuscular disorders : NMD.

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

E. Hardeman, P. Gunning, N. Laing, 2005, Annals of neurology.

Diagnosis of the Muscular Dystrophies

L. Waddell, N. Clarke, K. North, 2012 .

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

M. Bahlo, B. Ilkovski, K. North, 2008, American journal of human genetics.

Membrane Repair: Mechanisms and Pathophysiology.

P. Mcneil, S. Cooper, 2015, Physiological reviews.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Membrane Injury and Repair in the Muscular Dystrophies

S. Cooper, S. Head, 2015, The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry.

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

P. Greer, R B Sutton, S. Cooper, 2017, Cellular signalling.

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

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015, Human molecular genetics.

Muscle weakness in TPM 3-myopathy is due to reduced Ca 2 +-sensitivity and impaired acto-myosin cross-bridge cycling in slow fi bres

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015 .

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

M. Ackerman, L. Waddell, N. Clarke, 2011, Journal of neuropathology and experimental neurology.

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

C. T. Pappas, C. Gregorio, T. Roscioli, 2021, European Journal of Human Genetics.

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

M. Fleming, C. Sue, J. Christodoulou, 2015, JIMD reports.

The Syntrophin-Dystrobrevin Subcomplex in Human Neuromuscular Disorders

K. North, A. Compton, S. Cooper, 2005, Journal of neuropathology and experimental neurology.

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

A. Peduto, L. Waddell, F. Evesson, 2022, HGG advances.

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

Beryl B. Cummings, D. MacArthur, L. Waddell, 2019, American journal of human genetics.

Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity

S. Cooper, H. Joshi, R. Dawes, 2021, bioRxiv.

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2021, Neurology: Genetics.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

D. MacArthur, E. Hoffman, M. Lek, 2016, Annals of neurology.

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

M. Warmoes, Carole L. Linster, P. Naidoo, 2023, International journal of molecular sciences.

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

J. Christodoulou, A. Rotig, P. de Lonlay, 2013, Orphanet Journal of Rare Diseases.

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

L. Waddell, M. Ryan, M. Farrar, 2019, Neuromuscular Disorders.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Beryl B. Cummings, D. MacArthur, L. Waddell, 2020, European journal of human genetics : EJHG.

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

F. Evesson, R B Sutton, S. Cooper, 2017, The Journal of Biological Chemistry.

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

C. Whitchurch, L. Turnbull, S. Cooper, 2016, Traffic.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

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

L. Waddell, N. Clarke, K. North, 2011, Muscle & nerve.

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

L. Waddell, E. Oates, S. Cooper, 2023, Frontiers in Neurology.

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

Beryl B. Cummings, D. MacArthur, L. Waddell, 2019, European Journal of Human Genetics.

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

M. Lek, S. Cooper, R. Dawes, 2019, npj Genomic Medicine.

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

S. Cooper, H. Goel, A. Bournazos, 2020, European journal of medical genetics.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou, Z. Stark, K. Rose, 2020, Human mutation.

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

S. Grimmond, R. Taft, J. Christodoulou, 2014, PloS one.

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

D. MacArthur, M. Mroczek, S. Cooper, 2020, Neuromuscular Disorders.

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

Joshua Burns, Daniel G. MacArthur, Khurshid Alam, 2017, npj Genomic Medicine.

Use ofWhole-Exome Sequencing for Diagnosis of Limb-GirdleMuscular Dystrophy Outcomes and Lessons Learned

D. MacArthur, M. Lek, L. Waddell, 2015 .

C2C12 co-culture on a fibroblast substratum enables sustained survival of contractile, highly differentiated myotubes with peripheral nuclei and adult fast myosin expression.

D. Allen, E. Hardeman, K. North, 2004, Cell motility and the cytoskeleton.

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

R. Dale, S. Cooper, S. Ramanathan, 2016, Acta neuropathologica communications.

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

M. Lek, S. Cooper, R. Dawes, 2019, npj Genomic Medicine.

Mutant actins that cause congenital myopathy affect sarcomeric protein expression in patient muscle and produce intranuclear and cytoplasmic aggregates in cultured myoblasts

K. Davies, S. Clément, B. Ilkovski, 2004 .