F. Evesson

发表

Identification and Characterization of a Novel Broad-Spectrum Virus Entry Inhibitor

S. Whelan, T. Kirchhausen, S. Ross, 2016, Journal of Virology.

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.

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.

Dietary intervention rescues myopathy associated with neurofibromatosis type 1

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

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.

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.

Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype.

G. Many, V. Kelley, F. Evesson, 2017, The American journal of pathology.

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

M. Lek, Robert L L Smith, L. Waddell, 2011, Neuromuscular Disorders.

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

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

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

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

Diagnosis of the Muscular Dystrophies

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

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.

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

M. Lek, Robert L L Smith, L. Waddell, 2011, Neuromuscular Disorders.

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.

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.

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.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

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

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.

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

L. Waddell, N. Laing, F. Evesson, 2020, Neuropathology and applied neurobiology.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

L. Waddell, G. O'grady, F. Evesson, 2023, Clinical genetics.

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.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

C. Zaidman, L. Waddell, L. Adès, 2023, Human molecular genetics.

RNA variant assessment using transactivation and transdifferentiation

A. Spurdle, C. Poulton, M. Corbett, 2024, American journal of human genetics.

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint

F. Evesson, M. Yuen, R. Dawes, 2024, European journal of human genetics : EJHG.