Robert Carlier

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

Susana Quijano-Roy, Nicole Monnier, Jie Zhou et al. · Human Molecular Genetics · 2012 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Whole‐body muscle magnetic resonance imaging in <i>SEPN1</i>‐related myopathy shows a homogeneous and recognizable pattern

Karolina Hankiewicz, Robert Carlier, Leïla Lazaro et al. · Muscle & Nerve · 2015 · 55 citations

Medicine, Neurology, Radiology +17

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Alicia Alonso‐Jiménez, Rosemarie H.M.J.M. Kroon, A. Alejaldre‐Monforte et al. · Journal of Neurology Neurosurgery & Psychiatry · 2018 · 52 citations · Full text

Medicine, Pathology, Radiology +17

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Xavière Lornage, Norma B. Romero, Claire A Grosgogeat et al. · Acta Neuropathologica · 2019 · 52 citations

Life Sciences, Genetics, Molecular Genetics +8