Pascal Sabouraud

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 · 245 citations · Full text

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy, Emilie Landais, Sylvain Briault et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Clinical Disorders, New Patients, Genetic Disorder +4

<i>PRRT2</i> mutations cause hemiplegic migraine

Florence Riant, Emmanuel Roze, Cécile Barbance et al. · Neurology · 2012 · 128 citations

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 · 99 citations · Full text

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 · 72 citations