Agata Oliwa - Publications

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.

Journal: Journal of neuromuscular diseases

Published: December 18, 2023

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Journal: Neuromuscular disorders : NMD

Published: March 19, 2023

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Journal: Journal of neuromuscular diseases

Published: September 04, 2022

IgG4-Related Sclerosing Disease of the Temporal Bone: A Systematic Review.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: August 08, 2022

Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.

Journal: Neuromuscular disorders : NMD

Published: February 24, 2022

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Journal: American journal of medical genetics. Part A

Published: January 06, 2022

A DM1 patient with CCG variant repeats: Reaching the diagnosis.

Journal: Neuromuscular disorders : NMD

Published: July 10, 2020

Systemic Inflammation and Outcome in 2295 Patients with Stage I-III Colorectal Cancer from Scotland and Norway: First Results from the ScotScan Colorectal Cancer Group.

Journal: Annals of surgical oncology

Published: August 05, 2019