Roberto Torron-Fernandez

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 62 publications

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Journal: Journal of neuromuscular diseases

Published: July 28, 2026

Real-world effectiveness and clinical predictors of response to first-generation TTR silencers in variant ATTR amyloidosis with polyneuropathy.

Real-world effectiveness and clinical predictors of response to first-generation TTR silencers in variant ATTR amyloidosis with polyneuropathy.

Journal: Scientific reports

Published: March 03, 2026

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.

Journal: Journal of neuromuscular diseases

Published: May 13, 2025

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

Journal: HGG advances

Published: April 25, 2025

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Journal: Annals of clinical and translational neurology

Published: February 05, 2025

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.

Journal: Cells

Published: January 29, 2025

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Journal: Journal of neurology

Published: September 17, 2024

Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.

Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.

Journal: Acta neuropathologica

Published: June 27, 2024

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Journal: European journal of neurology

Published: June 06, 2024

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome.

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 26, 2024

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: February 13, 2024

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Journal: Brain : a journal of neurology

Published: September 08, 2023

Showing 1-12 of 62

Last Updated: 09/26/2026