Mariacristina C. Scoto

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 92 publications

Evidence no longer matters: newborn screening in England.

Evidence no longer matters: newborn screening in England.

Journal: Lancet (London, England)

Published: July 29, 2026

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Journal: EClinicalMedicine

Published: December 17, 2025

Antisense and gene therapy trials in Duchenne muscular dystrophy.

Antisense and gene therapy trials in Duchenne muscular dystrophy.

Journal: Med (New York, N.Y.)

Published: November 03, 2025

Longitudinal assessment of respiratory status utilising the amended Great Ormond Street Respiratory Score in treated spinal muscular atrophy type 1 children.

Longitudinal assessment of respiratory status utilising the amended Great Ormond Street Respiratory Score in treated spinal muscular atrophy type 1 children.

Journal: Neuromuscular disorders : NMD

Published: October 21, 2025

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Journal: Neuromuscular disorders : NMD

Published: October 10, 2025

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Journal: Neurology. Genetics

Published: September 26, 2025

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons.

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons.

Journal: Annals of clinical and translational neurology

Published: February 27, 2025

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.

Journal: BMJ open

Published: January 22, 2025

Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy.

Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy.

Journal: Nature medicine

Published: January 07, 2025

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Journal: Neuromuscular disorders : NMD

Published: January 05, 2025

Expressive language and social communication abilities in children with spinal muscular atrophy type 1.

Expressive language and social communication abilities in children with spinal muscular atrophy type 1.

Journal: Developmental medicine and child neurology

Published: December 23, 2024

Spinal muscular atrophy in the UK: the human toll of slow decisions.

Spinal muscular atrophy in the UK: the human toll of slow decisions.

Journal: Lancet (London, England)

Published: December 19, 2024

Showing 1-12 of 92

Last Updated: 09/26/2026