List of works - Per Harald Jonson

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions

scientific article

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

scientific article published on 03 April 2019

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

scientific article published on 15 April 2015

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

scientific article published on 27 October 2021

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

scientific article

Identification of the first fungal NADP-GAPDH from Kluyveromyces lactis.

scientific article published in November 2002

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

scientific article published on 11 May 2021

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

scientific article

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

scientific article

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

scientific article published on 13 February 2018

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

scientific article published on 27 July 2015

Protein engineering the surface of enzymes

scientific article published on 01 November 1998

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

scientific article published on 29 October 2016

The complexity of titin splicing pattern in human adult skeletal muscles

scientific article published on 29 March 2018

The origin of trypsin: evidence for multiple gene duplications in trypsins.

scientific article published in September 1998

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

scientific article

What distinguishes an esterase from a lipase: a novel structural approach.

scientific article

List of works by Per Harald Jonson

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

Identification of the first fungal NADP-GAPDH from Kluyveromyces lactis.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

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

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Protein engineering the surface of enzymes

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

The complexity of titin splicing pattern in human adult skeletal muscles

The origin of trypsin: evidence for multiple gene duplications in trypsins.

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

What distinguishes an esterase from a lipase: a novel structural approach.