List of works - Nigel F Clarke

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

scientific article published on 22 April 2017

A novel X-linked form of congenital fiber-type disproportion

scientific article published in November 2005

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

scientific article

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

scientific article published on 17 June 2011

Actin mutations are one cause of congenital fibre type disproportion

scientific article published in November 2004

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

scientific article

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

scientific article (publication date: May 2009)

Congenital fiber type disproportion--30 years on.

scientific article

Congenital fiber-type disproportion

scientific article published on December 2011

Congenital fibre type disproportion--a syndrome at the crossroads of the congenital myopathies

scientific article published on 01 April 2011

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

scientific article

Congenital myopathies

scientific article published on 01 January 2013

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

scientific article published on 25 April 2018

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

scientific article published on 3 March 2017

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

scientific article published in August 2003

De novo LMNA mutations cause a new form of congenital muscular dystrophy

scientific article published in August 2008

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

scientific article published on 10 December 2014

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

scientific article published on 9 May 2016

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

scientific article published in April 2011

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

scientific article published on 12 January 2018

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

scientific article published on 28 April 2015

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues

scientific article

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

scientific article published on 15 June 2010

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

scientific article published on 12 March 2010

Expanding the phenotype of GMPPB mutations.

scientific article published on 12 February 2015

Fragile X syndrome phenotype with normal FMR1 gene studies.

scientific article published in September 2004

Genotype-phenotype correlations in recessive RYR1-related myopathies

scientific article published on 06 August 2013

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

scientific article published on 11 December 2008

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

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

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

scientific article

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

scientific article published on 24 September 2014

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

scientific article published on 02 January 2015

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel

scientific article published on 12 October 2012

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

scientific article

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

scientific article (publication date: July 2014)

Mutation update: the spectra of nebulin variants and associated myopathies

scientific article

Mutation-specific effects on thin filament length in thin filament myopathy

scientific article published on 13 April 2016

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

scientific article

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

scientific article

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

scientific article published on 06 June 2013

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

scientific article

Mutations in TPM2 and congenital fibre type disproportion

scientific article published on 24 July 2012

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

scientific article

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

scientific article published on 22 January 2013

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

scientific article

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

scientific article

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

scientific article published on 27 January 2016

Recent advances in nemaline myopathy

scientific article

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

scientific article

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

scientific article published in July 2010

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

scientific article

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

Response

scientific article published on 29 December 2014

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

scientific article

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin

scientific article published on 01 January 2008

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

scientific article published on 24 May 2016

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

scientific article published in May 2016

The pathogenesis of ACTA1-related congenital fiber type disproportion

scientific article

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

scientific article

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

scientific article published on 05 October 2015

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes

scholarly article

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

scientific article published on 2 September 2016

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

scientific journal article

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

scientific article

Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.

scientific article

List of works by Nigel F Clarke

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

A novel X-linked form of congenital fiber-type disproportion

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

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

Actin mutations are one cause of congenital fibre type disproportion

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

Congenital fiber type disproportion--30 years on.

Congenital fiber-type disproportion

Congenital fibre type disproportion--a syndrome at the crossroads of the congenital myopathies

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Congenital myopathies

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

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

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

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

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Expanding the phenotype of GMPPB mutations.

Fragile X syndrome phenotype with normal FMR1 gene studies.

Genotype-phenotype correlations in recessive RYR1-related myopathies

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

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

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

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

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

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

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

Mutation update: the spectra of nebulin variants and associated myopathies

Mutation-specific effects on thin filament length in thin filament myopathy

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

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

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Mutations in TPM2 and congenital fibre type disproportion

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

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

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

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

Recent advances in nemaline myopathy

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Response

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

The pathogenesis of ACTA1-related congenital fiber type disproportion

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

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

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

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

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.