Katarina Pelin

University of Helsinki

Finland

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Articles (14)

Year:

2025

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2025

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2025

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2024

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2024

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2024

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2023

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2022

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2022

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2021

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2021

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2021

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2021

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2020

Collaborators (9)

Henna Tyynismaa

University of Helsinki

FINLAND

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Salla Rusanen

University of Helsinki

FINLAND

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Janna Saarela

University of Helsinki

FINLAND

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Emil Ylikallio

University of Helsinki

FINLAND

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Mridul Johari

University of Helsinki

FINLAND

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Alan Beggs

Sir Edwin & Lady Manton Professor

Harvard Medical School

UNITED STATES

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Vilma-Lotta Lehtokari

University of Helsinki

FINLAND

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Catherine Wingate

University of Western Australia

AUSTRALIA

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Benjamin Englert

University of Helsinki

FINLAND

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Katarina Pelin

Research Interests

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Articles (14)

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy

Structural variation in nebulin and its impact on phenotype and inheritance

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Genetics of the congenital myopathies

Nebulin

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Collaborators (9)

Henna Tyynismaa

Salla Rusanen

Janna Saarela

Emil Ylikallio

Mridul Johari

Alan Beggs

Vilma-Lotta Lehtokari

Catherine Wingate

Benjamin Englert

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