List of works - Kirsten R Straasheijm

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

scientific article

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on February 2016

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

scientific article published on 21 November 2017

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

scientific article published on 14 November 2006

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein

scientific article

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on 17 November 2015

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

scientific article published on 5 January 2016

Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein

scientific article published on 18 August 2011

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

scientific article published on 21 March 2018

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.

scientific article published on 02 December 2013

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

scientific article published on 6 March 2012

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

scientific article published on May 2016

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

scientific article

Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies

scientific article published in 2021

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

scientific article (publication date: October 2013)

List of works by Kirsten R Straasheijm

A unifying genetic model for facioscapulohumeral muscular dystrophy

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1