Consensus on Exercise Reporting Template (CERT): Modified Delphi Study
2016 · Physical Therapy · 474 citations
https://doi.org/10.2522/ptj.20150668
R
Rosaline C. M. Quinlivan
University College London Hospitals NHS Foundation Trust(GB)
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Rosaline C. M. Quinlivan is an academic researcher from University College London Hospitals NHS Foundation Trust. The author has contributed to research in topics: Muscle Physiology and Disorders & Glycogen Storage Diseases and Myoclonus & Genetic Neurodegenerative Diseases. The author has an h-index of 51, co-authored 769 publications.
ORCID: 0000-0002-2306-4782Papers by this author
worksMaking sense of missense variants in TTN-related congenital myopathies
2021 · Acta Neuropathologica · 61 citations
https://doi.org/10.1007/s00401-020-02257-0
Implementation of "the consensus statement for the standard of care in spinal muscular atrophy" when applied to infants with severe type 1 SMA in the UK
2009 · Archives of Disease in Childhood · 58 citations
https://doi.org/10.1136/adc.2009.166512
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
2020 · Orphanet Journal of Rare Diseases · 40 citations
https://doi.org/10.1186/s13023-020-01562-x
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
2022 · Nature Communications · 32 citations
https://doi.org/10.1038/s41467-022-32908-7
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
2024 · Nature Communications · 27 citations
https://doi.org/10.1038/s41467-024-49950-2
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