G. Ravenscroft

发表

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

G. Ravenscroft, L. Swanson, A. Beggs, 2014, American journal of human genetics.

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

G. Ravenscroft, N. Laing, Mark R. Davis, 2020, Molecular Diagnosis & Therapy.

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

F. Muntoni, G. Ravenscroft, N. Laing, 2012, Neurology.

G. Ravenscroft, C. Bönnemann, Z. Valivullah, 2022, Journal of Medical Genetics.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

New era in genetics of early-onset muscle disease: Breakthroughs and challenges.

A. Forrest, G. Ravenscroft, N. Laing, 2017, Seminars in cell & developmental biology.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

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

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

D. Ward, G. Ravenscroft, C. D. dos Remedios, 2013, Cardiovascular research.

Pseudoperoxidase activity, conformational stability, and aggregation propensity of the His98Tyr myoglobin variant: implications for the onset of myoglobinopathy

S. Hofbauer, C. Obinger, G. Ravenscroft, 2021, The FEBS journal.

Rescue of skeletal muscle alpha-actin-null mice by cardiac ( fetal ) alpha-actin

K. Davies, G. Morahan, S. Clément, 2017 .

O.24 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

K. Davies, G. Ravenscroft, N. Laing, 2011, Neuromuscular Disorders.

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

K. Davies, G. Morahan, S. Clément, 2009, The Journal of cell biology.

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

G. Ravenscroft, C. Bönnemann, N. Laing, 2015, Brain : a journal of neurology.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

G. Ravenscroft, N. Laing, C. Paradas, 2019, Acta Neuropathologica Communications.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Alessandro Filosa, G. Ravenscroft, N. Laing, 2018, PLoS genetics.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

J. Trewhella, M. Kreissl, V. Lehtokari, 2013, Brain : a journal of neurology.

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms

G. Ravenscroft, N. Laing, K. Nowak, 2012, Acta Neuropathologica.

Investigation of changes in skeletal muscle α-actin expression in normal and pathological human and mouse hearts

G. Ravenscroft, N. Laing, Steven B Marston, 2010, Journal of Muscle Research and Cell Motility.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

A. Bronstein, S. Züchner, N. Wood, 2020, Brain : a journal of neurology.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

T. Neuhann, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Robert H. Brown, J. Landers, G. Ravenscroft, 2011, American journal of human genetics.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

F. Mastaglia, H. Kremer, G. Ravenscroft, 2010, American journal of human genetics.

Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy

W. Talbot, G. Ravenscroft, N. Laing, 2022, Human mutation.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Joshua S. Clayton, G. Ravenscroft, N. Laing, 2019, Human molecular genetics.

Recent advances in understanding congenital myopathies

R. Bryson-Richardson, G. Ravenscroft, N. Laing, 2018, F1000Research.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

A. Schapira, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

R. Redon, A. Rötig, G. Ravenscroft, 2016, American journal of human genetics.

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

G. Ravenscroft, E. Todd, N. Laing, 2014, American journal of medical genetics. Part A.

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

G. Ravenscroft, N. Laing, K. Yau, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

G. Ravenscroft, N. Laing, N. Pachter, 2020, Annals of clinical and translational neurology.

Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – Quantification of striated α-actins by MRM-mass spectrometry

S. Clément, G. Ravenscroft, N. Laing, 2008, Neuromuscular Disorders.

Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system.

S. Clément, G. Ravenscroft, N. Laing, 2007, Cell motility and the cytoskeleton.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.

Joshua S. Clayton, G. Ravenscroft, E. Malfatti, 2021, Stem cell research.

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

K. Davies, G. Ravenscroft, N. Laing, 2011, PloS one.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

H. True, G. Ravenscroft, N. Laing, 2022, bioRxiv.

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

G. Ravenscroft, N. Laing, J. Wilmshurst, 2011, Neuromuscular Disorders.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

W. Talbot, J. Melki, G. Ravenscroft, 2015, American journal of human genetics.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

! 1 ! Skeletal muscle α-actin diseases-“ actinopathies ”

G. Ravenscroft, N. Laing, K. Nowak, 2017 .

Uwa Research Publication

G. Ravenscroft, N. Laing, K. Nowak, 2014 .

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.

E. Olson, R. Grange, She Chen, 2014, The Journal of clinical investigation.

Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.

H. Iwamoto, G. Ravenscroft, N. Laing, 2013, Human molecular genetics.

Cardiac α-actin over-expression therapy in dominant ACTA1 disease.

K. Davies, E. Hardeman, G. Ravenscroft, 2013, Human molecular genetics.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

F. Muntoni, G. Ravenscroft, N. Laing, 2022, Neuromuscular Disorders.

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

G. Ravenscroft, J. Widrick, Steve Carr, 2022, bioRxiv.

Mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Alessandro Filosa, G. Ravenscroft, N. Laing, 2018 .

Mutations in nucleoporin NUP88 cause lethal neuromuscular disorder

Alessandro Filosa, G. Ravenscroft, N. Laing, 2018, bioRxiv.

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene

G. Ravenscroft, N. Laing, E. Abdalla, 2017, Neuromuscular Disorders.

Fetal akinesia: review of the genetics of the neuromuscular causes

G. Ravenscroft, N. Laing, G. Baynam, 2011, Journal of Medical Genetics.

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Joshua S. Clayton, J. Kijas, G. Ravenscroft, 2020, Acta Neuropathologica Communications.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

J. Kere, A. Goris, S. Hofbauer, 2019, Nature Communications.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Joshua S. Clayton, K. Pelin, G. Ravenscroft, 2020, Acta Neuropathologica Communications.

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

K. Friend, G. Ravenscroft, E. Todd, 2013, Neuromuscular Disorders.

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 .

Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart.

S. Clément, G. Ravenscroft, N. Laing, 2007, Cell Motility and the Cytoskeleton.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

G. Ravenscroft, N. Laing, A. Kariminejad, 2017, Brain : a journal of neurology.

Genetic neuromuscular disorders: what is the best that we can do?

G. Ravenscroft, N. Laing, R. Ong, 2021, Neuromuscular Disorders.

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening

G. Ravenscroft, N. Laing, C. Molster, 2018, Journal of Medical Genetics.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Brent S. Pedersen, H. Mefford, A. Quinlan, 2021, bioRxiv.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

G. Ravenscroft, N. Laing, M. Delatycki, 2017, Neuromuscular Disorders.

Genetics of neuromuscular fetal akinesia in the genomics era

G. Ravenscroft, N. Laing, C. Mclean, 2018, Journal of Medical Genetics.

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

J. Lupski, G. Ravenscroft, N. Laing, 2020, Nature Communications.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction

M. Kamm, G. Ravenscroft, N. Laing, 2018, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

Cylindrical spirals in two families: Clinical and genetic investigations

G. Ravenscroft, N. Laing, I. Ojanguren, 2019, Neuromuscular Disorders.

Expanding the phenotype of GMPPB mutations.

D. MacArthur, M. Lek, G. Ravenscroft, 2015, Brain : a journal of neurology.

Recent advances in our understanding of genetic rhabdomyolysis

G. Ravenscroft, M. Cabrera-Serrano, 2022, Current opinion in neurology.

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Ira W. Deveson, G. Ravenscroft, N. Laing, 2021, medRxiv.

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Joshua S. Clayton, B. Weisburd, G. Ravenscroft, 2020, Brain : a journal of neurology.

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.

T. Anderson, L. Pelosi, G. Ravenscroft, 2020, Brain : a journal of neurology.

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel

Joshua S. Clayton, A. Forrest, G. Ravenscroft, 2021, Skeletal muscle.

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy

A. Forrest, F. Muntoni, G. Ravenscroft, 2018, Human molecular genetics.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

G. Ravenscroft, N. Laing, C. Paradas, 2019, Acta neuropathologica communications.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Yi-Chung Lee, L. Santoro, G. Ravenscroft, 2018, American journal of human genetics.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

G. Ravenscroft, N. Laing, K. Kassahn, 2023, Neuromuscular Disorders.

Evidence of altered guinea pig ventricular cardiomyocyte protein expression and growth in response to a 5 min in vitro exposure to H(2)O(2).

G. Ravenscroft, N. Laing, E. Ingley, 2010, Journal of proteome research.

Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness

G. Ravenscroft, N. Laing, J. Ochala, 2012, PloS one.

X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction.

H. Iwamoto, G. Ravenscroft, J. Ochala, 2015, Journal of structural biology.

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Joshua S. Clayton, R. Carrozzo, M. Digilio, 2021, Human mutation.

Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype

G. Ravenscroft, N. Laing, Mark Davis, 2023, Neurology: Genetics.

REPORT A M (cid:2) aori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

L. Pelosi, G. Ravenscroft, N. Laing, 2020 .

P.90 Autosomal dominant lower limb restricted congenital myopathy

G. Ravenscroft, N. Laing, M. Delatycki, 2016, Neuromuscular Disorders.

Transcriptome and Genome Analysis Uncovers a DMD Structural Variant

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2023, Neurology: Genetics.

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

J. Beilby, G. Ravenscroft, N. Laing, 2019, BMJ Open.

Pathology provides clarity in the next-generation sequencing era

G. Ravenscroft, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

M. Eberle, T. Pastinen, B. Brais, 2023, bioRxiv.

Recessive MYH7-related myopathy in two families

G. Ravenscroft, C. Ottenheijm, N. Laing, 2019, Neuromuscular Disorders.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

Joshua S. Clayton, J. Melki, G. Ravenscroft, 2022, Neuromuscular Disorders.

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.

Joshua S. Clayton, G. Ravenscroft, E. Malfatti, 2021, Stem cell research.

P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies

B. Brais, G. Ravenscroft, N. Laing, 2010, Neuromuscular Disorders.

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

G. Ravenscroft, N. Laing, R. Johnsen, 2022, Neuropathology and applied neurobiology.

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

B. Weisburd, G. Ravenscroft, N. Laing, 2023, Brain communications.

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene

G. Ravenscroft, N. Laing, E. Abdalla, 2017, Neuromuscular Disorders.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Yoshihiko Saito, R. Bryson-Richardson, G. Ravenscroft, 2023, medRxiv.

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

K. Davies, G. Morahan, S. Clément, 2009, The Journal of cell biology.

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

K. Friend, G. Ravenscroft, E. Todd, 2013, Neuromuscular Disorders.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

J. Trewhella, M. Kreissl, V. Lehtokari, 2013, Brain : a journal of neurology.

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

R. Bryson-Richardson, G. Ravenscroft, L. Medne, 2024, Science Translational Medicine.

X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction.

H. Iwamoto, G. Ravenscroft, J. Ochala, 2015, Journal of structural biology.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.