Publications by authors named "M Scavina"

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Mena Scavina

Brain· September 2025

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Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.
Priya Nigam, Kristi K Fitzgerald, Mena Scavina, Takeshi Tsuda

Pediatr Cardiol· February 2025

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The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Birk Möller, Lena-Luise Becker, Afshin Saffari, Alexandra Afenjar, Emanuele G Coci, Mena Scavina

Brain· February 2025

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Scoliosis Development in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-Modifying Treatments.
Sadettin Ciftci, Armagan C Ulusaloglu, M Wade Shrader, Mena T Scavina, William G Mackenzie

J Pediatr Orthop· October 2024

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The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Mena Scavina

medRxiv· March 2024

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