Ariane Choumert

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

David Adams, Michael Polydefkis, Alejandra González‐Duarte et al. · The Lancet Neurology · 2020 · 156 citations

Medicine, Neurology, Pharmacotherapy +14

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Andrea Barp, Pascal Laforêt, Luca Bello et al. · Journal of Neurology · 2019 · 62 citations · Full text

Medicine, Anatomy, Radiology +12

Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy

David Adams, Jonas Wixner, Michael Polydefkis et al. · JAMA Neurology · 2025 · 31 citations · Full text

Medicine, Neurology, Pharmacotherapy +13

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane, Cécilia Marelli, Claire Guissart et al. · Genetics in Medicine · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Motor axonal neuropathy associated with <scp><i>GNE</i></scp> mutations

Nicolae Grecu, Luísa Villa, Michele Cavalli et al. · Muscle & Nerve · 2020 · 23 citations

Medicine, Genetics, Neurology +17