Judith A. Hudson

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 18 publications

Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.

Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.

Journal: Rheumatology (Oxford, England)

Published: May 03, 2021

From temporal updating to temporal reasoning: Developments in young children's temporal representations.

From temporal updating to temporal reasoning: Developments in young children's temporal representations.

Journal: The Behavioral and brain sciences

Published: December 13, 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Journal: Annals of clinical and translational neurology

Published: April 18, 2018

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: February 22, 2018

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Journal: Orphanet journal of rare diseases

Published: June 01, 2017

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Journal: Neuromuscular disorders : NMD

Published: March 10, 2017

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Journal: Neuromuscular disorders : NMD

Published: February 09, 2017

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: December 16, 2016

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

Journal: The Journal of biological chemistry

Published: April 01, 2016

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Journal: Brain : a journal of neurology

Published: January 12, 2016

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Journal: Journal of neurology

Published: November 26, 2015

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.

Journal: Neuromuscular disorders : NMD

Published: September 09, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026