Screening for genetic mutations in patients with neuropathy without definite etiology is useful

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

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Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

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Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

P. James B. Dyck, K. F. Oviatt, Edward H. Lambert · Annals of Neurology · 1981 · 325 citations

Medicine, Neurology, Neuroscience +14

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

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Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic et al. · Journal of Neurochemistry · 2017 · 79 citations

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