Lucy Feng
Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 37 publications
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Journal: Annals of clinical and translational neurology
Published: May 21, 2024
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: July 07, 2023
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Journal: Journal of neuropathology and experimental neurology
Published: September 09, 2021
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Journal: Human mutation
Published: March 16, 2021
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Journal: Neuropathology and applied neurobiology
Published: December 29, 2020
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Journal: Neuropediatrics
Published: December 22, 2020
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
Journal: Acta neuropathologica communications
Published: December 11, 2020
Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies.
Journal: Neuromuscular disorders : NMD
Published: November 19, 2020
A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
Journal: Acta neuropathologica communications
Published: January 31, 2020
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.
Journal: Journal of cachexia, sarcopenia and muscle
Published: June 28, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Journal: Neuromuscular disorders : NMD
Published: February 25, 2019
Miniaturized magnetic bead-actuators for force-clamp spectroscopy-based single-molecule measurements.
Journal: Ultramicroscopy
Published: February 04, 2019
Last Updated: 09/26/2026