Carola Oldfors-Hedberg

Goeteborg, O, Sweden

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 60 publications

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8.

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8.

Journal: Brain pathology (Zurich, Switzerland)

Published: May 20, 2026

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 26, 2026

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

Journal: Annals of clinical and translational neurology

Published: February 04, 2026

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Journal: Human molecular genetics

Published: November 17, 2025

Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study.

Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study.

Journal: European journal of neurology

Published: October 28, 2025

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Journal: Frontiers in neurology

Published: July 08, 2025

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.

Journal: Annals of neurology

Published: June 27, 2025

Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.

Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.

Journal: Acta neuropathologica

Published: October 02, 2024

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

Journal: European journal of human genetics : EJHG

Published: September 06, 2024

TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.

TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.

Journal: Parkinsonism & related disorders

Published: August 19, 2024

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: June 15, 2024

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

Journal: American journal of medical genetics. Part A

Published: February 21, 2024

Showing 1-12 of 60

Last Updated: 09/26/2026