A. N. Pakleza

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.

A. Echaniz-Laguna, Y. Péréon, P. Latour, 2023, European journal of neurology.

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

P. Latour, T. Stojkovic, F. Bouhour, 2023, European journal of human genetics : EJHG.

Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

D. Orlikowski, A. Béhin, A. Magot, 2024, European journal of neurology.