Carina Pettersson-Wallgren

Helsinki, Finland

Last Updated: 09/26/2026

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Found 74 publications

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

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

Journal: Journal of neuromuscular diseases

Published: May 21, 2025

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.

Journal: JCI insight

Published: May 07, 2025

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Journal: medRxiv : the preprint server for health sciences

Published: January 13, 2025

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Journal: European journal of human genetics : EJHG

Published: January 07, 2025

Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.

Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.

Journal: The Journal of physiology

Published: May 13, 2024

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Journal: Neurology. Genetics

Published: April 26, 2024

A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

Journal: Neuromuscular disorders : NMD

Published: March 06, 2024

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Journal: Neuromuscular disorders : NMD

Published: September 21, 2023

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

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

Journal: Journal of neuromuscular diseases

Published: July 02, 2023

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

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

Journal: Neuromuscular disorders : NMD

Published: June 27, 2023

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

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

Journal: Scientific reports

Published: March 16, 2023

Showing 1-12 of 74

Last Updated: 09/26/2026