Sanna P. Huovinen

Tampere, Finland

Last Updated: 09/26/2026

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Found 32 publications

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Journal: Journal of neurology
Published: July 01, 2025

Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.

Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.

Journal: Acta neuropathologica communications
Published: June 27, 2025

Successful Treatment of Anti-Jo-1 Positive Inflammatory Myopathy With Tofacitinib.

Successful Treatment of Anti-Jo-1 Positive Inflammatory Myopathy With Tofacitinib.

Journal: Case reports in rheumatology
Published: August 19, 2024

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

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

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

Journal: Acta neuropathologica communications
Published: October 28, 2022

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.

Journal: Journal of neurology
Published: October 15, 2021

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.

Journal: Neurology. Genetics
Published: March 15, 2021

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

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

Journal: Acta neuropathologica
Published: January 01, 2021

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

Journal: Journal of neurology
Published: December 01, 2018

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

Journal: Journal of neuromuscular diseases
Published: October 30, 2018

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Journal: Journal of neurology
Published: August 23, 2018
Showing 1-12 of 32

Last Updated: 09/26/2026