Emmanuelle Lagrue

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 260 citations · Full text

Medicine, Cardiology, Internal Medicine +15

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

Frédérique Audic, Marta Gómez García de la Banda, Delphine Bernoux et al. · Orphanet Journal of Rare Diseases · 2020 · 101 citations · Full text

Medicine, Neurology, Pediatrics +17

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Emmanuelle Lagrue, Céline Dogan, Marie De Antonio et al. · Neurology · 2019 · 73 citations

Medicine, Child Health, Pediatrics +9

The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy

Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay et al. · Neurology · 2020 · 73 citations · Full text

Medicine, Pathology, Pediatrics +15

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero et al. · RMD Open · 2016 · 60 citations · Full text

Life Sciences, Molecular Genetics, Neurology +17