Associated Papers
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Theuriet J et al.
European Journal of Human Genetics : Ejhg, 2024
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G et al.
Neurology. Genetics, 2023
Clinical spectrum of BICD2 mutations.
Frasquet M et al.
European Journal of Neurology, 2020
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
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