List of works - Thomas Sejersen

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

scientific article published in November 1999

A protocol to develop clinical guidelines for inclusion-body myositis

scientific article

Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes

scientific article published on 10 August 2014

Analysis of fibronectin and vitronectin receptors on human fetal skeletal muscle cells upon differentiation

scientific article

Attention and memory training in children with acquired brain injuries.

scientific article

Beneficial effect from a cognitive training programme on children with acquired brain injuries demonstrated in a controlled study

scientific article

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

scientific article published on 13 May 2010

Consensus statement on standard of care for congenital muscular dystrophies

scientific article

Consensus statement on standard of care for congenital myopathies

scientific article published on March 2012

Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation

scientific article published on 03 July 2002

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.

scientific article published on 14 November 2007

Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

scientific article

Desmin mutations in a St. Petersburg cohort of cardiomyopathies

scientific article published on 01 December 2006

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes

scientific article

Distribution of nestin in the developing mouse limb bud in vivo and in micro-mass cultures of cells isolated from limb buds

scientific article published in February 1997

Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.

scientific article published on 7 March 2006

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

scientific article

Genetic spectrum of cardiomyopathies with neuromuscular phenotype.

scientific article published on January 2013

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

scientific article

Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up.

scientific article published on 29 August 2016

Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle

scientific article published on March 2013

Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy

scientific article published on April 2016

Long-term follow-up of children with obstetric brachial plexus palsy I: functional aspects

scientific article published on 01 March 2007

Long-term follow-up of children with obstetric brachial plexus palsy II: neurophysiological aspects

scientific article published on 01 March 2007

Lung clearance in children with Duchenne muscular dystrophy or spinal muscular atrophy with and without CPAP (continuous positive airway pressure)

scientific article published on 01 September 2001

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

scientific article published on 27 October 2013

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria

scientific article published on 19 June 2008

Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment

scientific article published on 26 December 2013

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

scientific article published on 27 March 2019

Nestin distribution in the developing limb bud in vivo and in vitro

scientific article published in June 1996

Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II.

scientific article published on 20 May 2016

Pediatric rhabdomyosarcomas express the intermediate filament nestin

scientific article published on 01 March 1998

Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy

scientific article

Progressive cardiac conduction disease associated with a DSP gene mutation.

scientific article

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.

scientific article published on December 2009

Sustained favorable effects of cognitive training in children with acquired brain injuries

scientific article published in January 2007

Tenascin-C expression correlates with macrophage invasion in Duchenne muscular dystrophy and in myositis

scientific article published on 01 January 1997

The kinase domain of titin controls muscle gene expression and protein turnover

scientific article

Up-regulation of a novel integrin alpha-chain (alpha mt) on human fetal myotubes

scientific article

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

scientific article published on September 2006

Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner

scientific article published on 6 May 2015

[Children with poliomyelitis in Sweden 1996]

scientific article published on 01 April 1996

[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy]

scientific article published on 01 March 2005

cDNA cloning and chromosomal localization of human alpha(11) integrin. A collagen-binding, I domain-containing, beta(1)-associated integrin alpha-chain present in muscle tissues

scientific article

List of works by Thomas Sejersen

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

A protocol to develop clinical guidelines for inclusion-body myositis

Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes

Analysis of fibronectin and vitronectin receptors on human fetal skeletal muscle cells upon differentiation

Attention and memory training in children with acquired brain injuries.

Beneficial effect from a cognitive training programme on children with acquired brain injuries demonstrated in a controlled study

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Consensus statement on standard of care for congenital muscular dystrophies

Consensus statement on standard of care for congenital myopathies

Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.

Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

Desmin mutations in a St. Petersburg cohort of cardiomyopathies

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes

Distribution of nestin in the developing mouse limb bud in vivo and in micro-mass cultures of cells isolated from limb buds

Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Genetic spectrum of cardiomyopathies with neuromuscular phenotype.

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up.

Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle

Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy

Long-term follow-up of children with obstetric brachial plexus palsy I: functional aspects

Long-term follow-up of children with obstetric brachial plexus palsy II: neurophysiological aspects

Lung clearance in children with Duchenne muscular dystrophy or spinal muscular atrophy with and without CPAP (continuous positive airway pressure)

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria

Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment

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

Nestin distribution in the developing limb bud in vivo and in vitro

Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II.

Pediatric rhabdomyosarcomas express the intermediate filament nestin

Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy

Progressive cardiac conduction disease associated with a DSP gene mutation.

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.

Sustained favorable effects of cognitive training in children with acquired brain injuries

Tenascin-C expression correlates with macrophage invasion in Duchenne muscular dystrophy and in myositis

The kinase domain of titin controls muscle gene expression and protein turnover

Up-regulation of a novel integrin alpha-chain (alpha mt) on human fetal myotubes

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner

[Children with poliomyelitis in Sweden 1996]

[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy]

cDNA cloning and chromosomal localization of human alpha(11) integrin. A collagen-binding, I domain-containing, beta(1)-associated integrin alpha-chain present in muscle tissues