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Russell J Butterfield

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Medrxiv : the Preprint Server for Health Sciences|April 8, 2024

The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.

Brain : a Journal of Neurology|April 3, 2025

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.

JAMA|April 5, 2022

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical TrialMichela Guglieri, Kate Bushby, Michael P McDermott, et al.

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Search research articles

Showing results (71-80 of 73) with videos related to

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You have reached the last page of results.This site can display upto 73 results.

Medrxiv : the Preprint Server for Health Sciences|April 8, 2024

Brain : a Journal of Neurology|April 3, 2025

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.

JAMA|April 5, 2022

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical TrialMichela Guglieri, Kate Bushby, Michael P McDermott, et al.

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