Simon R. Hammans
Southampton, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 19 publications
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Journal: Brain : a journal of neurology
Published: June 08, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Journal: Brain : a journal of neurology
Published: October 06, 2023
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Journal: Nature communications
Published: September 29, 2023
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype.
Journal: Neuromuscular disorders : NMD
Published: July 04, 2023
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Journal: Nature communications
Published: April 28, 2021
Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI.
Journal: Neuromuscular disorders : NMD
Published: September 30, 2020
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE).
Journal: Practical neurology
Published: July 29, 2020
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Journal: Muscle & nerve
Published: October 14, 2017
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: July 26, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
Journal: Journal of neurology
Published: January 05, 2017
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Journal: Neurogenetics
Published: October 25, 2016
Last Updated: 09/26/2026