Susana Quijano-Roy
6PUBLICATIONS
114CO-AUTHORS
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Publications (6)
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|Dec 31, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.Nami Altin, Kamel Mamchaoui, Jessica Ohana
|Jul 08, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.Lamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda
|Jan 13, 2025
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.Hugh J McMillan, Giovanni Baranello, Michelle A Farrar
|Jul 22, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin
|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 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
|Dec 18, 2023
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.Victor D Armengol, Basil T Darras, Ahmad A Abulaban
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Frequent Collaborators
2 joint publications
Basil T Darras
2 joint publications
Pascale Saugier-Veber
2 joint publications
Francesco Muntoni
2 joint publications
Yin-Hsiu Chien
2 joint publications
Michelle A Farrar
2 joint publications
Tanya Stojkovic
1 joint publications
Victor D Armengol
1 joint publications
Ahmad A Abulaban
1 joint publications
Nina Barisic
1 joint publications
Tawfeg Ben-Omran
