Lista de obras -

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Congenital fiber type disproportion--30 years on.

artículo científico publicado en 2003

Congenital fiber-type disproportion

artículo científico

Congenital fibre type disproportion – A syndrome at the crossroads of the congenital myopathies ⬇️

artículo científico publicado el 1 de abril de 2011

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

artículo científico publicado el 19 de enero de 2011

Congenital myopathies

scientific article published on 01 January 2013

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Expanding the phenotype of GMPPB mutations.

artículo científico publicado en 2015

Fragile X syndrome phenotype with normal FMR1 gene studies

artículo científico publicado en 2004

Genotype-phenotype correlations in recessive RYR1-related myopathies

artículo científico publicado en 2013

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel ⬇️

artículo científico publicado el 12 de octubre de 2012

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

artículo científico publicado en 2015

Mutations in TPM2 and congenital fibre type disproportion

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Recent advances in nemaline myopathy

artículo científico publicado en 2013

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Response

scientific article published on 29 December 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

The pathogenesis of ACTA1-related congenital fiber type disproportion

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Lista de obras de

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