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Roy, Susana Quijano
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1

The emerging spectrum of neurodevelopmental comorbidities i..:

Baranello, Giovanni ; Roy, Susana Quijano ; Servais, Laurent...
European Journal of Paediatric Neurology.  48 (2024)  - p. 67-68 , 2024
Link: https://doi.org/10.1016/..
 
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2

264th ENMC International Workshop: Multi-system involvement..:

Detering, Nora Tula ; Zambon, Alberto ; Hensel, Niko...
Neuromuscular Disorders.  32 (2022)  8 - p. 697-705 , 2022
Link: https://doi.org/10.1016/..
 
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3

Mutations in SEPN1 cause congenital muscular dystrophy with..:

Moghadaszadeh, Behzad ; Petit, Nathalie ; Jaillard, Céline...
Nature Genetics.  29 (2001)  1 - p. 17-18 , 2001
Link: https://doi.org/10.1038/..
 
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4

270th ENMC International Workshop: Consensus for SMN2 genet..:

Abiusi, Emanuela ; Costa-Roger, Mar ; Bertini, Enrico Silvio...
Neuromuscular Disorders.  34 (2024)  - p. 114-122 , 2024
Link: https://doi.org/10.1016/..
 
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5

Functional benefit of CRISPR-Cas9-induced allele deletion f..:

Beaufils, Mathilde ; Melka, Margaux ; Brocard, Julie...
Molecular Therapy - Nucleic Acids.  35 (2024)  3 - p. 102259 , 2024
Link: https://doi.org/10.1016/..
 
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6

Life-Saving Treatments for Spinal Muscular Atrophy: Global ..:

Armengol, Victor D. ; Darras, Basil T. ; Abulaban, Ahmad A....
Neurology Clinical Practice.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1212/..
 
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7

Real-World Outcomes in Patients with Spinal Muscular Atroph..:

Servais, Laurent ; Day, John W. ; De Vivo, Darryl C....
Journal of Neuromuscular Diseases.  11 (2024)  2 - p. 425-442 , 2024
Link: https://doi.org/10.3233/..
 
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8

Effect of nusinersen after 3 years of treatment in 57 young..:

Audic, Frédérique ; Dubois, Sonia M. ; Durigneux, Julien...
Archives de Pédiatrie.  31 (2024)  2 - p. 117-123 , 2024
Link: https://doi.org/10.1016/..
 
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9

SEPN1-related myopathy depends on the oxidoreductase ERO1A ..:

Germani, Serena ; Van Ho, Andrew Tri ; Cherubini, Alessandro...
Cell Reports Medicine.  5 (2024)  3 - p. 101439 , 2024
Link: https://doi.org/10.1016/..
 
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10

Obituary: Professor Annie Barois (1930-2024):

Romero, Norma Beatriz ; Urtizberea, J. Andoni ; Quijano-Roy, Susana
Neuromuscular Disorders.  38 (2024)  - p. 42-43 , 2024
Link: https://doi.org/10.1016/..
 
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11

2024 update: European consensus statement on gene therapy f..:

Kirschner, Janbernd ; Bernert, Günther ; Butoianu, Nina...
European Journal of Paediatric Neurology.  51 (2024)  - p. 73-78 , 2024
Link: https://doi.org/10.1016/..
 
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12

Diagnostic work-up and phenotypic characteristics of a fami..:

Dabaj, Ivana ; Carlier, Robert Y. ; Dieterich, Klaus...
Frontiers in Genetics.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Treatments and Outcomes for Patients with Spinal Muscular A..:

Servais, Laurent ; Benguerba, Kamal ; De Vivo, Darryl C....
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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14

253rd ENMC international workshop: Striated muscle laminopa..:

Maggi, Lorenzo ; Quijano-Roy, Susana ; Bönnemann, Carsten.
Neuromuscular Disorders.  33 (2023)  6 - p. 498-510 , 2023
Link: https://doi.org/10.1016/..
 
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15

Characterization of cardiac involvement in children with LM..:

Cesar, Sergi ; Campuzano, Oscar ; Cruzalegui, Jose...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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