about
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyWelander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyIdentification of the first fungal NADP-GAPDH from Kluyveromyces lactis.Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.What distinguishes an esterase from a lipase: a novel structural approach.Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.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.The complexity of titin splicing pattern in human adult skeletal muscles.CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.The origin of trypsin: evidence for multiple gene duplications in trypsins.Protein engineering the surface of enzymesAn unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyActininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Per Harald Jonson
@ast
Per Harald Jonson
@en
Per Harald Jonson
@es
Per Harald Jonson
@nl
Per Harald Jonson
@sl
type
label
Per Harald Jonson
@ast
Per Harald Jonson
@en
Per Harald Jonson
@es
Per Harald Jonson
@nl
Per Harald Jonson
@sl
prefLabel
Per Harald Jonson
@ast
Per Harald Jonson
@en
Per Harald Jonson
@es
Per Harald Jonson
@nl
Per Harald Jonson
@sl
P106
P108
P1153
56716055300
6506234203
P31
P496
0000-0003-2423-359X