Publications by authors named "A Roubertie"

Claim this Profile
T
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, Cyril Goizet, Olivier Patat, Agathe Roubertie

Genet Med· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Deep brain stimulation in patients with mixed movement disorders linked to ADCY5.
E Retailleau, N Dorison, G Poulen, A Roubertie, O Trouillard

Rev Neurol (Paris)· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S Pearson, Agathe Roubertie

J Inherit Metab Dis· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Antoine Delinière, Chloé Mulatier, David Cheillan, Farha Gheurbi, Marion Buchy, Agathe Roubertie

Heart Rhythm· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Agathe Roubertie

medRxiv· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis