N. Laing

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.

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.

J. Haines, M. Pericak-Vance, J. Jankovic, 2001, JAMA.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

J. Haines, M. Pericak-Vance, H. Horvitz, 1993, Nature.

Revertant fibres: a possible genetic therapy for Duchenne muscular dystrophy?

N. Laing, S. Wilton, D. Dye, 1997, Neuromuscular Disorders.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

S. Mundlos, F. Westermann, N. Laing, 2001 .

STRetch: detecting and discovering pathogenic short tandem repeat expansions

D. MacArthur, M. Lek, A. Oshlack, 2017, bioRxiv.

Mutations in TPM3 are a common cause of congenital fiber type disproportion

N. Romero, N. Laing, N. Clarke, 2008, Annals of neurology.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

J. Dowling, L. Waddell, N. Laing, 2013, 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.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

F. Muntoni, J. Palace, N. Laing, 2010, Neuromuscular Disorders.

Early onset chromosome 14-linked distal myopathy (Laing)

F. Mastaglia, L. Cala, N. Laing, 2002, Neuromuscular Disorders.

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

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

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis

F. Mastaglia, M. Dalakas, N. Laing, 2012, Journal of Neuroimmunology.

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

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

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular disorders : NMD.

Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype

N. Laing, J. Christodoulou, H. Leonard, 2003, American journal of medical genetics. Part A.

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.

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

Zizhao Zhang, N. Laing, M. Lawlor, 2018, Human molecular genetics.

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

L. Balmer, G. Morahan, N. Laing, 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

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

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene.

G. B. Petersen, N. Laing, P. Ray, 1998, Gene.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Joshua S. Clayton, A. O’Donnell-Luria, N. Laing, 2020, Journal of Medical Genetics.

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

N. Laing, S. Wilton, S. White, 1995, Nature genetics.

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

F. Chen, N. Laing, Mark R. Davis, 2020, BMC Ophthalmology.

Effectiveness of posthumous molecular diagnosis from a kept baby tooth

N. Laing, H. Leonard, Mark R. Davis, 2005, The Lancet.

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.

Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2009, Human mutation.

Nemaline myopathy caused by absence of α‐skeletal muscle actin

F. Muntoni, S. Clément, N. Romero, 2007 .

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

N. Laing, A. Kariminejad, M. Salari, 2018, Neurology: Genetics.

Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations

Daniel E. Newburger, T. Crawford, A. Beggs, 2004 .

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

N. Laing, C. Wallgren‐Pettersson, K. North, 1997, Journal of medical genetics.

Clinical course correlates poorly with muscle pathology in nemaline myopathy

U. de Girolami, B. Ilkovski, A. Beggs, 2003, Neurology.

Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22–24 September 2000, Naarden, The Netherlands

N. Laing, C. Wallgren‐Pettersson, 2001, Neuromuscular Disorders.

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

P. Dormitzer, V. Lehtokari, A. Beggs, 2007, American journal of human genetics.

Autosomal dominant distal myopathy: linkage to chromosome 14.

F. Mastaglia, N. Laing, P. Robbins, 1995, American journal of human genetics.

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

P. Visscher, N. Wray, A. McRae, 2020, npj Genomic Medicine.

Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization.

N. Laing, H. Eyre, E. Baker, 1995, Cytogenetics and cell genetics.

"Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance

N. Laing, S. Wilton, G. Suthers, 1994, The Lancet.

Prognosis in Familial Amyotrophic Lateral Sclerosis

M. Pericak-Vance, T. Siddique, N. Laing, 1997, Neurology.

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

P. Sham, J. Powell, A. Al-Chalabi, 1998, Human molecular genetics.

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.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

C. Ottenheijm, C. Bönnemann, N. Laing, 2015, Annals of neurology.

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.

Clinical utility gene card for: Nemaline myopathy – update 2015

N. Laing, C. Wallgren‐Pettersson, P. Lamont, 2015, European Journal of Human 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.

Clinical utility gene card for: Nemaline myopathy

N. Laing, C. Wallgren‐Pettersson, P. Lamont, 2012, European Journal of Human Genetics.

G.P.13.17 Recombinant mapping of MHC susceptibility region in sporadic inclusion body myositis (sIBM)

F. Mastaglia, N. Laing, M. Needham, 2007, Neuromuscular Disorders.

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.

Toxic mutants in Charcot's sclerosis

N. Laing, D. Cleveland, Robert H. Brown, 1995, Nature.

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

A. V. van Kuilenburg, N. Laing, M. Delatycki, 2022, Molecular genetics and metabolism.

Assignment of the human slow skeletal muscle troponin gene (TNNI1) to 1q32 by fluorescence in situ hybridisation.

L. Kedes, N. Laing, H. Eyre, 1993, Cytogenetics and cell genetics.

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

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

Approach to the diagnosis of congenital myopathies

Ching H. Wang, J. Dowling, C. Bönnemann, 2014, Neuromuscular Disorders.

Approach to the diagnosis of congenital myopathies q

Ching H. Wang, J. Dowling, C. Bönnemann, 2014 .

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

N. Laing, C. Wallgren‐Pettersson, M. Grönholm, 2012, The Biochemical journal.

Nemaline myopathies.

N. Laing, C. Wallgren‐Pettersson, C. Sewry, 2011, Seminars in pediatric neurology.

Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene

N. Laing, S. Gospe, M. Parisi, 2007, Muscle & nerve.

Intranuclear nemaline rod myopathy

H. Goebel, N. Laing, D. Weeks, 2006, Muscle & nerve.

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred

B. Ilkovski, N. Laing, K. North, 2006, Neuromuscular Disorders.

138th ENMC Workshop: Nemaline Myopathy, 20–22 May 2005, Naarden, The Netherlands

N. Laing, C. Wallgren‐Pettersson, 2006, Neuromuscular Disorders.

Magnetic resonance imaging of muscle in nemaline myopathy

G. Bydder, K. Pelin, J. Allsop, 2004, Neuromuscular Disorders.

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)

N. Laing, J. Schröder, H. Durling, 2004, Acta Neuropathologica.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

E. Haan, F. Muntoni, N. Laing, 2003, Neuromuscular Disorders.

Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.

N. Laing, S. Hitchcock-DeGregori, L. Blechynden, 2002, Biochemical and biophysical research communications.

Nemaline myopathy: A clinical study of 143 cases

A. Beggs, N. Laing, K. North, 2001, Annals of neurology.

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

A. Gruhler, N. Laing, Hanns Lochmüller, 2001, European journal of biochemistry.

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

N. Laing, E. Boltshauser, Jakob Briner, 1999, Neuromuscular Disorders.

Inherited disorders of contractile proteins in skeletal and cardiac muscle.

N. Laing, 1995, Current opinion in neurology.

Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1

F. Mastaglia, I. Nonaka, N. Laing, 2006, Neuromuscular Disorders.

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.

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

T. Siddique, E. Storey, N. Laing, 2003, Neuroepidemiology.

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

W. Hung, T. Siddique, N. Laing, 2000, Neurology.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

H. Horvitz, Robert H. Brown, R. Orrell, 1996, 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.

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

E. Haan, L. Kunkel, A. Beggs, 1992, American journal of human genetics.

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

N. Laing, N. Voermans, M. Ryan, 2018, Brain and behavior.

An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation

F. Mastaglia, N. Laing, P. Lamont, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Nemaline Myopathy with Exclusively Intranuclear Rods and a Novel Mutation in ACTA1 (Q139H)

B. Ilkovski, N. Laing, A. Koy, 2007, Neuropediatrics.

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.

Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function

N. Laing, N. Clarke, Steven B Marston, 2012, Journal of Muscle Research and Cell Motility.

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.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

F. Mastaglia, P. Hedera, N. Laing, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction.

J. Finsterer, N. Laing, C. Stöllberger, 2014, International journal of cardiology.

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.

Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle’s disease: Expression and re-expression of glycogen phosphorylase

N. Laing, A. Everaardt, G. Karpati, 2008, Neuromuscular Disorders.

International perspectives on the implementation of reproductive carrier screening

W. Grody, F. Alkuraya, N. Laing, 2019, Prenatal diagnosis.

What is the role for preconception carrier screening in neurology

N. Laing, 2016 .

Motor innervation of proximally rotated chick embryo wings.

N. Laing, 1984, Journal of embryology and experimental morphology.

Development and motor innervation of a distal pair of fast and slow wing muscles in the chick embryo.

N. Laing, A. Lamb, 1983, Journal of embryology and experimental morphology.

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

A. Chapelle, F. Muntoni, N. Laing, 1995, Neuromuscular Disorders.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

D. Comas, N. Romero, N. Laing, 2018, Neurology.

Recent advances in understanding congenital myopathies

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

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

A. Clarke, N. Laing, G. Baynam, 2017, Front. Public Health.

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

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

Health care utilization and costs for children and adults with duchenne muscular dystrophy

N. Laing, H. Leonard, E. Geelhoed, 2016, Muscle & nerve.

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

P. Gunning, N. Laing, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

L-tyrosine supplementation is not therapeutic for skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

Augustin C. Ogier, R. Bryson-Richardson, N. Laing, 2017, bioRxiv.

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.

Is newborn screening for Duchenne muscular dystrophy ethically justifiable

N. Laing, K. Bayley, 2012 .

Production of human skeletal α-actin proteins by the baculovirus expression system

F. Schachat, N. Laing, K. Beckman, 2003 .

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

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

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

P. Scuffham, J. Braithwaite, N. Laing, 2022, Journal of personalized medicine.

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

J. Emery, N. Laing, M. Delatycki, 2019, Australian journal of general practice.

CUGC for Duchenne muscular dystrophy (DMD)

N. Laing, M. Needham, D. Coote, 2018, European 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.

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

N. Laing, E. Oates, T. Beilharz, 2022, medRxiv.

Dystrophin gene transcripts skipping the mdx mutation

N. Laing, S. Wilton, D. Dye, 1997, Muscle & nerve.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

M. Zatz, V. Lehtokari, N. Laing, 2022, International journal of molecular sciences.

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Daniel E. Newburger, T. Crawford, A. Beggs, 2004, Annals of neurology.

An αtropomyosin mutation alters dimer preference in nemaline myopathy

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

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

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

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

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.

Clinical Utility Gene Card for: Becker muscular dystrophy

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

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.

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

Z. Molnár, N. Laing, I. Nishino, 2006, Neuromuscular Disorders.

Identification of a point mutation and germinal mosaicism in a duchenne muscular dystrophy family

N. Laing, S. Wilton, B. Kakulas, 1994, Human mutation.

A novel mutation (L174R) in the Ca2+‐sensing receptor gene associated with familial hypocalciuric hypercalcemia

N. Laing, B. Stuckey, T. Ratajczak, 1997, Human mutation.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

F. Mastaglia, P. Hedera, N. Laing, 2004, American journal of human genetics.

Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early‐onset distal myopathy

N. Laing, G. Reis, M. Margeta, 2015, Neuropathology : official journal of the Japanese Society of Neuropathology.

Laing Distal Myopathy

N. Laing, P. Lamont, 2015 .

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

J. Finsterer, N. Laing, C. Stöllberger, 2014, Neuromuscular Disorders.

Clinical utility gene card for: Laing distal myopathy

N. Laing, B. Udd, P. Lamont, 2011, European Journal of Human Genetics.

Actinopathies and Myosinopathies

H. Goebel, N. Laing, 2009, Brain pathology.

Myosin storage (hyaline body) myopathy: A case report

N. Laing, K. North, E. Wills, 2006, Neuromuscular Disorders.

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred

H. Goebel, N. Laing, D. Dye, 2006, Neuromuscular Disorders.

Case report Myosin storage (hyaline body) myopathy: A case report

N. Laing, K. North, E. Wills, 2006 .

Distal myopathies

F. Mastaglia, N. Laing, P. Lamont, 2005, Current opinion in neurology.

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

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

No disease-associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease.

N. Laing, R. Atwell, C. O'Leary, 2003, Animal genetics.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy

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

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.

STRetch: detecting and discovering pathogenic short tandem repeat expansions

D. MacArthur, M. Lek, A. Oshlack, 2017, bioRxiv.

Cystinosis distal myopathy, novel clinical, pathological and genetic features

A. Pestronk, N. Laing, C. Weihl, 2017, Neuromuscular Disorders.

Central core disease: clinical, pathological, and genetic features

N. Laing, R. Quinlivan, C. Sewry, 2003, Archives of disease in childhood.

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

E. Haan, N. Laing, S. Wilton, 1995, Nature Genetics.

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

Augustin C. Ogier, R. Bryson-Richardson, N. Laing, 2018, Scientific Reports.

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.

Actin Genetic Diseases

N. Laing, J. Sparrow, 2008 .

Myopathies resulting from mutations in sarcomeric proteins

C. Bönnemann, N. Laing, 2004, Current opinion in neurology.

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

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

Genetics of Muscle Disease

N. Laing, P. Lamont, K. Nowak, 2013 .

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.

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

F. Muntoni, S. Clément, N. Romero, 2007, Annals of neurology.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

I. Nonaka, A. Beggs, N. Romero, 2003, Neuromuscular Disorders.

Congenital myopathies

N. Laing, 2007, Current opinion in neurology.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

N. Laing, C. Paradas, A. Miranda-Vizuete, 2018, Neuromuscular Disorders.

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.

Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy.

N. Laing, 1993, Molecular and cell biology of human diseases series.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene

Susan C. Brown, K. Pelin, E. Mercuri, 2001, Neuromuscular Disorders.

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

K. Pelin, F. Muntoni, R. Sutphen, 1999, Nature Genetics.

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.

Actin mutations are one cause of congenital fibre type disproportion

I. Nonaka, N. Laing, I. Nishino, 2004, Annals of neurology.

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

C. Hawkins, N. Laing, Ann Saada, 2004, Neuropediatrics.

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 α-Skeletal-Actin Gene

E. Hardeman, P. Gunning, B. Ilkovski, 2001 .

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

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

Corrigendum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

E. Haan, N. Laing, S. Wilton, 1995, Nature Genetics.

Erratum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1 (Nature Genetics (1995) 9 (75-79))

E. Haan, N. Laing, S. Wilton, 1995 .

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, E. Bertini, M. Schroth, 2012, Journal of child neurology.

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

K. Pelin, K. Claeys, V. Lehtokari, 2009, Neurology.

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

G. Bydder, J. Allsop, E. Mercuri, 2004, Neuromuscular Disorders.

The spectrum of pathology in central core disease

T. Helliwell, N. Laing, R. Quinlivan, 2002, Neuromuscular Disorders.

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

E. Hoffman, S. Subramony, N. Laing, 2000, Neurology.

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.

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular Disorders.

Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands

N. Laing, C. Wallgren‐Pettersson, 2000, Neuromuscular Disorders.

Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases

B. Dubois, W. Robberecht, H. Goebel, 2005, Neurology.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Nigel, K. Pelin, M. Bang, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects

N. Laing, C. Ampe, K. Sethi, 2004, Journal of Cell Science.

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

N. Laing, C. Ampe, K. Sethi, 2004, Journal of cell science.

Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2

K. Pelin, V. Lehtokari, N. Laing, 2007, Neuromuscular Disorders.

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study

A. Toutain, N. Laing, N. Monnier, 2007, Neuromuscular Disorders.

‘Cap myopathy’: Case report of a family

L. Vallée, N. Laing, A. Barois, 2006, Neuromuscular Disorders.

Mutations of the slow muscle &agr;-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2002, Neurology.

51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 1998, Neuromuscular disorders : NMD.

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

K. Pelin, V. Lehtokari, N. Laing, 2007, Neuromuscular disorders : NMD.

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

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

109th ENMC International Workshop: 5th Workshop on nemaline myopathy, 11th–13th October 2002, Naarden, The Netherlands

N. Laing, C. Wallgren‐Pettersson, 2003, Neuromuscular Disorders.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, K. Pelin, C. Saunders, 2014, Human mutation.

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

K. Pelin, V. Lehtokari, A. Beggs, 2009, Neuromuscular Disorders.

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K. Pelin, K. Bushby, F. Muntoni, 2006, Human mutation.

Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion

N. Laing, R. Johnsen, B. Kakulas, 2000, Neuromuscular Disorders.

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.

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy

F. Hanefeld, H. Goebel, C. Bönnemann, 2006 .

F. Hanefeld, H. Goebel, C. Bönnemann, 2004, Journal of child neurology.

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

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

Uwa Research Publication

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

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008

N. Laing, C. Wallgren‐Pettersson, 2009, Neuromuscular Disorders.

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.

Genetics of neuromuscular disorders

N. Laing, 2012, Critical reviews in clinical laboratory sciences.

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

L. Aaltonen, N. Laing, H. Järvinen, 2012, Gastroenterology.

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

I. Nonaka, Y. Hayashi, N. Laing, 2011, Neuromuscular Disorders.

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation

F. Heppner, H. Goebel, N. Laing, 2010, Neuromuscular Disorders.

Skeletal muscle alpha-actin diseases.

N. Laing, K. North, 2008, Advances in experimental medicine and biology.

Inherited disorders of sarcomeric proteins.

N. Laing, 1999, Current opinion in neurology.

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.

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.

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

S. Mundlos, F. Westermann, N. Laing, 2001, Nature 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.

Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex

Marinos C. Dalakas, Richard J.N. Allcock, F. Mastaglia, 2011, Journal of Neuroimmunology.

Nemaline myopathy type 6: Clinical and myopathological features

N. Laing, N. Sambuughin, L. Goldfarb, 2010, Muscle & nerve.

Nemaline myopathy: currentconcepts

N. Laing, K. North, 1997 .

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.

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.

Mutation Analysis of MECP2 and Determination of the X-Inactivation Pattern in Hungarian Rett Syndrome Patients

A. Silahtaroglu, N. Laing, M. Schwartz, 2004 .

Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy

A. Chapelle, M. Ridanpää, K. Pelin, 1997, European journal of human genetics : EJHG.

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.

N. Laing, S. Wilton, R. Johnsen, 1993, American journal of medical genetics.

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

P. Visscher, N. Wray, A. McRae, 2020, npj Genomic Medicine.

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

Gareth Baynam, Jack Goldblatt, Lyn Schofield, 2015, American journal of medical genetics. Part A.

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

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

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

P. Visscher, N. Wray, A. McRae, 2021, European Journal of Human Genetics.

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

L. Kunkel, A. Beggs, N. Laing, 1992, Genomics.

When contractile proteins go bad: the sarcomere and skeletal muscle disease

N. Laing, K. Nowak, 2005, BioEssays : news and reviews in molecular, cellular and developmental biology.

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Belinda Phipson, Alicia Oshlack, Monkol Lek, 2018, Genome Biology.

Investigation of muscle disease.

F. Mastaglia, N. Laing, N. G. Laing, 1996, Journal of neurology, neurosurgery, and psychiatry.

Genomic newborn screening: public health policy considerations and recommendations

Erick R. Scott, S. Kingsmore, B. Knoppers, 2017, BMC Medical Genomics.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

N. Laing, M. Delatycki, E. Kirk, 2022, Journal of inherited metabolic disease.

Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.

N. Laing, M. Delatycki, A. Archibald, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Susan C. Brown, G. Bydder, E. Mercuri, 2002, Neurology.

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Timo Lassmann, Gareth Baynam, Tarun Weeramanthri, 2016, Orphanet Journal of Rare Diseases.

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.

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

N. Laing, M. Komatsu, A. Kornberg, 2020, Journal of Medical Genetics.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Gloria L. Porras-Hurtado, A. Drake, D. Chitayat, 2021, Nature Communications.

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.

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

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

Genetics of neuromuscular fetal akinesia in the genomics era

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

Chapter 64. Distal Myopathies

N. Laing, 2010 .

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.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

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.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

F. Muntoni, N. Laing, V. Dubowitz, 2012, Neuromuscular Disorders.

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

K. Pelin, S. Rudnik-Schöneborn, V. Lehtokari, 2008, European Journal of Human Genetics.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Expanded reproductive carrier screening—how can we do the most good and cause the least harm?

N. Laing, M. Delatycki, E. Kirk, 2019, European Journal of Human Genetics.

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

F. Mastaglia, N. Laing, J. Hallmayer, 1999, Journal of neurology, neurosurgery, and psychiatry.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

N. Laing, A. Kariminejad, O. Rackham, 2018, Neurology: 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.

Muscle fibre types and innervation of the chick embryo limb following cervical spinal cord removal.

N. Laing, A. Lamb, 1985, Journal of embryology and experimental morphology.

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

N. Laing, R. Johnsen, B. Kakulas, 1992, American journal of medical genetics.

Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an association with HLA-DR3.

F. Mastaglia, N. Laing, P. Price, 2004, Tissue antigens.

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation

G. Morahan, N. Laing, R. Dilley, 2017, G3: Genes, Genomes, Genetics.

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.

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Andrew H Crosby, Teepu Siddique, T. Siddique, 2008, American journal of human genetics.

Distal myopathies: clinical and molecular diagnosis and classification.

F. Mastaglia, N. Laing, 1999, Journal of neurology, neurosurgery, and psychiatry.

More surprises in sarcomeric protein diseases.

N. Laing, 2007, Brain : a journal of neurology.

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles

N. Laing, D. Williams, K. Reardon, 2005, Neurology.

Autosomal dominant distal myopathy not linked to the known distal myopathy loci

J. Hallmayer, N. Laing, K. Felice, 1999, Neuromuscular Disorders.

Inherited skeletal muscle disorders.

F. Mastaglia, N. Laing, 1999, Annals of human biology.

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

N. Laing, J. Boutilier, P. Lamont, 2015, Clinical genetics.

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

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

Characterization of three myotonia‐associated mutations of the CLCN1 chloride channel gene via heterologous expression

B. P. Hughes, N. Laing, G. Rychkov, 2004, Human mutation.

Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype

Ian James, Timothy Day, Adrian Scott, 2009, Neuromuscular Disorders.

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.

Causes of sustained increased serum creatine kinase concentrations in subjects without clinical signs of muscle disease Physical exercise Muscle trauma Pressure Falls Injections Acute psychosis / delirium Dyskinesiae Drugs Alcohol Others * Hypothyroidism Hypokalaemia Presymptomatic Malignant hyperth

F. Mastaglia, N. Laing, 2022 .

A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

R. Bartlett, N. Laing, A. Walker, 1992, Journal of medical genetics.

Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms

M. Pericak-Vance, R. Bartlett, W. Hung, 1991, Prenatal diagnosis.

deletion and carrier status analysis . A TaqI map of the dystrophin gene useful for

R. Bartlett, N. Laing, A. Walker, 2022 .

Normal expression of adhalin and merosin in ovine congenital progressive muscular dystrophy.

N. Laing, R. Johnsen, B. Kakulas, 1997, Australian veterinary journal.

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy

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

Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

N. Laing, S. Wilton, S. Fletcher, 2011, The Clinical biochemist. Reviews.

Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening

N. Laing, 2008, Journal of Muscle Research and Cell Motility.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

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

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

E. Bertini, K. Pelin, E. Mercuri, 2014, Human mutation.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

N. Laing, K. Kiiski, M. Olivé, 2018, European journal of neurology.

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

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

Complete genomic screen in Parkinson disease: evidence for multiple genes.

J. Haines, M. Pericak-Vance, J. Jankovic, 2001, JAMA.

Genomic newborn screening: public health policy considerations and recommendations

Erick R. Scott, S. Kingsmore, B. Knoppers, 2017, BMC Medical Genomics.

Complete genomic screen in Parkinson Disease

J. Haines, J. Jankovic, A. Roses, 2001 .

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype

N. Laing, P. Lamont, R. Allcock, 2015, Muscle & nerve.

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

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

Muscle spindle number is normal in guinea pigs with reduced dorsal root ganglia following in utero deprivation of nerve growth factor

N. Laing, P. Osborne, E. Johnson, 1988, Brain Research.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

I. James, F. Mastaglia, A. Saunders, 2021, Frontiers in Aging Neuroscience.

Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy

N. Laing, M. Ferenczi, Steven B Marston, 2009, Journal of Muscle Research and Cell Motility.

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

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

A splice-site mutation causing ovine McArdle's disease

N. Laing, S. Wilton, P. Akkari, 1997, 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.

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

G. Hankey, F. Mastaglia, N. Laing, 1998, Journal of neurology, neurosurgery, and psychiatry.

incidental CLCN 1 mutation in a previously described family with an An expansion in the ZNF 9 gene causes PROMM

N. Laing, P. Lamont, R. Jacob, 2004 .

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.

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

F. Mastaglia, H. Kremer, N. Laing, 2003, Brain : a journal of neurology.

40th ENMC sponsored international workshop: Nemaline myopathy 2–4 February 1996, Naarden, The Netherlands

N. Laing, C. Wallgren‐Pettersson, 1996, Neuromuscular Disorders.

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation.

N. Laing, D. Callen, S. Wilton, 1995, Cytogenetics and cell genetics.

Timing of motoneuron death in the brachial and lumbar regions of the chick embryo.

N. Laing, 1982, Brain research.

Abnormal development of vertebrae in paralyzed chick embryos

N. Laing, 1982, Journal of morphology.

Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene.

N. Laing, H. Goez, Y. Nevo, 2005, Journal of child neurology.

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

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

Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

N. Laing, M. Etemadifar, M. Olivé, 2019, Annals of Clinical and Translational Neurology.

Evidence for Multiple Genes

Vance, J. Haines, J. Jankovic, 2001 .

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.

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.

N. Laing, S. Wilton, S. White, 1995, Nature genetics.

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

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

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

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

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Joshua S. Clayton, N. Laing, H. Galehdari, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Characterisation of the chicken Cu,Zn superoxide dismutase gene.

J. L. Stanton, N. Laing, S. Wilton, 1996, DNA sequence : the journal of DNA sequencing and mapping.

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 .

G.P.35 Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies

M. Lek, N. Laing, D. Macarthur, 2014, Neuromuscular Disorders.

Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation.

L. Kedes, N. Laing, D. Callen, 1994, Cytogenetics and cell genetics.

D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

N. Laing, N. Clarke, M. Ryan, 2012, Neuromuscular Disorders.

P.90 Autosomal dominant lower limb restricted congenital myopathy

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

Clinical Utility Gene Card for: Becker muscular dystrophy

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human 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.

INHERITED DELETION AT DUCHENNE DYSTROPHY LOCUS IN NORMAL MALE

M. Pericak-Vance, R. Bartlett, A. Roses, 1987, The Lancet.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

The innervation of skeletal muscles in chickens curarized during early development

J. Jansen, N. Laing, R. Ding, 1983, Journal of neurocytology.

RFLP for Duchenne muscular dystrophy cDNA clone 44-1.

R. Bartlett, W. Hung, T. Siddique, 1988, Nucleic Acids Research.

Prevention of spontaneous motoneurone death in chick embryos [proceedings].

M. Prestige, N. Laing, 1978, The Journal of physiology.

Zaspopathy in a large classic late-onset distal myopathy family.

R. Griggs, N. Laing, A. Engel, 2007, Brain : a journal of neurology.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Joshua S. Clayton, N. Laing, H. Galehdari, 2020, Genetics in Medicine.

Axonal loss and demyelation in multiple sclerosis

F. Mastaglia, N. Laing, J. Acheson, 1999, Journal of neurology, neurosurgery, and psychiatry.

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

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

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.

J. Haines, M. Pericak-Vance, H. Horvitz, 1991, The New England journal of medicine.

Recessive MYH7-related myopathy in two families

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

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

Nemaline myopathies.

N. Laing, C. Wallgren‐Pettersson, C. Sewry, 2011, Seminars in pediatric neurology.

Congenital Nemaline Myopathy due to ACTA1-Gene Mutation and Carnitine Insufficiency: A Case Report

W. Schlote, N. Laing, A. Sewell, 2001, Neuropediatrics.

Nemaline myopathy : current concepts

France, Australia, Finland., 2022 .

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.

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy

F. Hanefeld, H. Goebel, C. Bönnemann, 2006, Journal of child neurology.

Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy

N. Laing, K. North, E. Boltshauser, 1997, Neuromuscular Disorders.

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

E. Haan, M. Bitner-Glindzicz, R. Winter, 2001, Human Genetics.

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.

Deletion Syndrome

A. L. Wong, F. Mastaglia, M. Benatar, 2019 .

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.

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

Four type I equine microsatellites associated with the MITF, KIT, ATP2A1 and GDAP1 genes.

N. Laing, B. Hilbert, M. Binns, 2002, Animal genetics.

Uva-dare (digital Academic Repository) Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (myh7) Cause Laing Early-onset Distal Myopathy (mpd1)

F. Mastaglia, P. Hedera, N. Laing, 2022 .

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

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

The Sarcomere and Skeletal Muscle Disease

N. Laing, 2008 .

G.P.17.01 A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy

N. Laing, M. Auer-Grumbach, M. Speicher, 2007, Neuromuscular Disorders.

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 .

G.P.5.06 HLA alleles and MHC haplotypes in sporadic inclusion body myositis: Frequencies and phenotypic correlations

I. James, F. Christiansen, F. Mastaglia, 2008, Neuromuscular Disorders.

Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization.

N. Laing, D. Callen, S. Wilton, 1996, Cytogenetics and cell genetics.

Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation.

N. Laing, H. Eyre, P. Akkari, 1995, Cytogenetics and cell genetics.

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

L. Balmer, G. Morahan, N. Laing, 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.

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.

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.

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 and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2009, Human mutation.

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.

Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex

F. Mastaglia, M. Dalakas, N. Laing, 2011, Journal of Neuroimmunology.

The distribution of muscle fibre types in chick embryo wings transplanted to the pelvic region is normal.

N. Laing, A. Lamb, 1983, Journal of embryology and experimental morphology.

Brachially innervated ectopic hindlimbs in the chick embryo. I. Limb motility and motor system anatomy during the development of embryonic behavior.

N. Laing, P. Kitchener, 1993, Journal of neurobiology.

Motor projection patterns to the hind limb of normal and paralysed chick embryos.

N. Laing, 1982, Journal of embryology and experimental morphology.

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.

Brachially innervated ectopic hindlimbs in the chick embryo. II. The role of supraspinal input in the loss of limb motility.

N. Laing, P. Kitchener, 1993, Journal of neurobiology.

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.