Laura E. Rufibach

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Journal: Journal of neurology

Published: March 10, 2026

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.

Journal: Neurology. Genetics

Published: December 20, 2024

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

Journal: Journal of cachexia, sarcopenia and muscle

Published: November 27, 2024

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.

Journal: bioRxiv : the preprint server for biology

Published: May 20, 2024

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Journal: Annals of clinical and translational neurology

Published: May 08, 2024

Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.

Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: March 26, 2024

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Journal: Journal of personalized medicine

Published: February 09, 2023

Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

Journal: Neuromuscular disorders : NMD

Published: November 25, 2022

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.

Journal: Neuromuscular disorders : NMD

Published: October 24, 2022

Water T2 could predict functional decline in patients with dysferlinopathy.

Water T2 could predict functional decline in patients with dysferlinopathy.

Journal: Journal of cachexia, sarcopenia and muscle

Published: February 04, 2022

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

Journal: Frontiers in neurology

Published: December 03, 2021

Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases.

Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases.

Journal: Neuromuscular disorders : NMD

Published: October 14, 2021

Showing 1-12 of 32

Last Updated: 09/26/2026