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Lista de obras de Nigel G Laing

'Cap myopathy': case report of a family

scientific article published on 13 March 2006

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

artículo científico publicado en 2003

138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands

scientific article published on 20 December 2005

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

artículo científico publicado en 1992

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

scientific article published on 26 July 2018

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

artículo científico publicado en 2013

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

scientific article published on 01 December 2000

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

artículo científico publicado en 2007

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

article

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

artículo científico publicado en 2012

Actin mutations are one cause of congenital fibre type disproportion

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Allelic loss of cyclophilin 40, an estrogen receptor-associated immunophilin, in breast carcinomas

artículo científico publicado en 2001

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

artículo científico publicado en 2019

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

artículo científico publicado en 2005

Approach to the diagnosis of congenital myopathies

artículo científico publicado en 2014

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

artículo científico publicado en 1996

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

artículo científico publicado en 1995

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

artículo científico publicado en 2018

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

artículo científico publicado en 1999

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

artículo científico publicado en 2006

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

article

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

artículo científico publicado en 2018

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

artículo científico publicado en 2018

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

artículo científico publicado en 2016

CUGC for Duchenne muscular dystrophy (DMD).

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Characterisation of the chicken Cu,Zn superoxide dismutase gene

artículo científico publicado en 1996

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

artículo científico publicado en 2001

Clinical Utility Gene Card for: Becker muscular dystrophy.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Clinical utility gene card for: Laing distal myopathy ⬇️

artículo científico publicado el 8 de diciembre de 2010

Clinical utility gene card for: Nemaline myopathy ⬇️

artículo científico publicado el 18 de abril de 2012

Clinical utility gene card for: Nemaline myopathy - update 2015.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2022

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

artículo científico publicado el 1 de octubre de 2001

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

scientific article published on 14 October 2010

Congenital myopathies

artículo científico publicado en 2007

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

artículo científico publicado en 2018

Consensus statement on standard of care for congenital myopathies

artículo científico publicado en 2012

Core-rod myopathy caused by mutations in the nebulin gene

article

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

artículo científico publicado en 2017

Cystinosis distal myopathy, novel clinical, pathological and genetic features

scientific article published on 15 May 2017

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

artículo científico publicado en 2002

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

scientific article published on 29 April 2014

Distal myopathies

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Dystrophin gene transcripts skipping the mdx mutation

article

Early onset chromosome 14-linked distal myopathy (Laing)

scientific article published on 01 May 2002

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

artículo científico publicado en 2018

Effectiveness of posthumous molecular diagnosis from a kept baby tooth

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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).

artículo científico publicado en 2010

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

scientific article published on 13 February 2019

Expanding the phenotype of GMPPB mutations.

artículo científico publicado en 2015

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

artículo científico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Fetal akinesia: review of the genetics of the neuromuscular causes

artículo científico publicado en 2011

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

artículo científico publicado en 2002

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

artículo científico

Genetics of neuromuscular disorders

artículo científico

Genetics of neuromuscular fetal akinesia in the genomics era

article

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

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 2004

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

artículo científico publicado en 2001

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

article

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

article

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 2017

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

artículo científico publicado en 2017

Inherited disorders of sarcomeric proteins

artículo científico publicado en 1999

International perspectives on the implementation of reproductive carrier screening

scientific article published on 29 November 2019

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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.

artículo científico publicado en 1998

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

artículo científico publicado en 2013

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

scientific journal article

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 1994

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

Magnetic resonance imaging of muscle in nemaline myopathy

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

artículo científico publicado en 2002

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

scientific article published on 01 August 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2003

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

artículo científico publicado en 2014

Mutation update: the spectra of nebulin variants and associated myopathies

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 1999

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

artículo científico publicado en 2004

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

scientific journal article

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

scientific article published on 27 March 2019

Myopathies resulting from mutations in sarcomeric proteins

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Myosin storage (hyaline body) myopathy: a case report

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Nemaline myopathies.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2001

Nemaline myopathy type 6: clinical and myopathological features

artículo científico publicado en 2010

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

scientific article published on 21 March 2012

Nemaline myopathy: a clinical study of 143 cases

artículo científico publicado en 2001

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

scientific article published on 01 March 1997

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 1999

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

scientific article published on 24 February 2017

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

artículo científico publicado en 2020

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

scientific article published on 22 August 2019

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

artículo científico publicado en 2015

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

scientific article published on 01 March 2019

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Recent advances in understanding congenital myopathies

artículo científico publicado en 2018

Recessive MYH7-related myopathy in two families

artículo científico publicado en 2019

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

artículo científico publicado en 1998

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

STRetch: detecting and discovering pathogenic short tandem repeat expansions

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico

Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations

artículo científico publicado en 1998

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

artículo científico publicado en 2006

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

scientific article published on 31 August 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

scientific article published on 29 September 2015

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

artículo científico publicado en 2020

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

artículo científico publicado en 2016

The spectrum of pathology in central core disease

artículo científico publicado en 2002

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

artículo científico publicado en 1996

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

artículo científico publicado en 2004

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

scientific journal article

Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

scientific article published on 01 August 1993

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

artículo científico publicado el 3 de diciembre de 2012

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

artículo científico publicado en 2015

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