List of works - Nigel G Laing

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

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 06 June 2013

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

scientific article

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

scientific article published on 24 September 2014

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

scientific article

Approach to the diagnosis of congenital myopathies

scientific article

Nemaline myopathy: a clinical study of 143 cases

scientific article (publication date: September 2001)

Nemaline myopathies.

scientific article

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

scientific article

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

scientific article

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

article

The spectrum of pathology in central core disease

scientific article published in December 2002

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

scientific article

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

scientific article published in June 2000

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

scientific article published on 01 December 2000

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

scientific article

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

article

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

scientific article published on 05 October 2015

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

scientific article published in July 2004

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

scientific article

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

scientific article published on 25 May 2009

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

scientific article

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

scientific article

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

scientific journal article

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on 01 December 1998

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

scientific article

Actin mutations are one cause of congenital fibre type disproportion

scientific article published in November 2004

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

scientific article published in December 2004

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

scientific article published on July 2004

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

article

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

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

scientific article published on 24 July 2012

Consensus statement on standard of care for congenital myopathies

scientific article published on March 2012

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

scientific article published on 01 September 2006

Core-rod myopathy caused by mutations in the nebulin gene

article

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

scientific article

Mutation update: the spectra of nebulin variants and associated myopathies

scientific article

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

scientific article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

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

scientific article

Dystrophin gene transcripts skipping the mdx mutation

article

Magnetic resonance imaging of muscle in nemaline myopathy

Genetics of neuromuscular disorders

scientific article published on March 2012

List of works by Nigel G Laing

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

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

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

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

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

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

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

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

Approach to the diagnosis of congenital myopathies

Nemaline myopathy: a clinical study of 143 cases

Nemaline myopathies.

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

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

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

The spectrum of pathology in central core disease

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

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

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

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

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

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

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

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

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

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

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

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

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

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

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

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

Actin mutations are one cause of congenital fibre type disproportion

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

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

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

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

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

Consensus statement on standard of care for congenital myopathies

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Core-rod myopathy caused by mutations in the nebulin gene

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

Mutation update: the spectra of nebulin variants and associated myopathies

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

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

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

Dystrophin gene transcripts skipping the mdx mutation

Magnetic resonance imaging of muscle in nemaline myopathy

Genetics of neuromuscular disorders