Carina Wallgren‐Pettersson

University of Helsinki — Finland

Medicine · Health Sciences

53h-index10.1kcitations892works1.22yr avg
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Research Topics

Cardiomyopathy and Myosin Studies(171), Muscle Physiology and Disorders(108), Neurogenetic and Muscular Disorders Research(54), Cellular Mechanics and Interactions(31), Microtubule and mitosis dynamics(29)

Publications890 total

449PCopy-number variant and mobile element insertion analysis of whole-exome sequencing data from patients with neuromuscular disorders
Neuromuscular Disorders·2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy
Neurology Genetics·2025· 1 citedOpen Access
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
European Journal of Human Genetics·2025· 2 citedOpen Access
A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report
Journal of Neuromuscular Diseases·2025Open Access
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
2024Open Access
476P Functional studies of three novel CASQ1 variants
Neuromuscular Disorders·2024· 1 cited
01P Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Neuromuscular Disorders·2024
63P Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy
Neuromuscular Disorders·2024
31P Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland
Neuromuscular Disorders·2024
32P Investigating myosin dysregulation in X-linked myotubular myopathy
Neuromuscular Disorders·2024
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle
The Journal of Physiology·2024· 6 citedOpen Access
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands
Neuromuscular Disorders·2024· 3 citedOpen Access
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle
2024· 2 citedOpen Access
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Scientific Reports·2024· 2 citedOpen Access
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Neuromuscular Disorders·2023· 6 citedOpen Access
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
Neuromuscular Disorders·2023· 8 citedOpen Access
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
Orphanet Journal of Rare Diseases·2023· 3 citedOpen Access
Novel Compound Heterozygous Splice-Site Variants in <i>TPM3</i> Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Journal of Neuromuscular Diseases·2023· 2 citedOpen Access
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Acta Neuropathologica Communications·2022· 39 citedOpen Access
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
International Journal of Molecular Sciences·2022· 6 citedOpen Access
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Frequent Co-authors

Katarina Pelin(21), Nigel G. Laing(21), Alan H. Beggs(16), Vilma‐Lotta Lehtokari(16), Caroline A. Sewry(12), Kathryn N. North(9), Kati Donner(8), Norma B. Romero(8), Jocelyn Laporte(7), Kristen L. Nowak(7), Nigel F. Clarke(6), Jean‐Louis Mandel(4), Francesco Muntoni(4), Michel Fardeau(4), Heinz Jungbluth(4), Francesco Muntoni(4), Enrico Bertini(4), Ichizo Nishino(4), Coen A. C. Ottenheijm(4), Anne Toussaint(3)