Brianna Blume

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +11

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

Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial

Pedro Machado, Michael McDermott, Thomas Blaettler et al. · The Lancet Neurology · 2023 · 34 citations · Full text

Medicine, Internal Medicine, Pharmacotherapy +17

Assessing non-Mendelian inheritance in inherited axonopathies

Dana M. Bis‐Brewer, Ziv Gan‐Or, Patrick Sleiman et al. · Genetics in Medicine · 2020 · 27 citations · Full text

Life Sciences, Genetics, Neuroscience +11

Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy

Laura Obici, Senda Ajroud‐Driss, Kon‐Ping Lin et al. · Neurology and Therapy · 2023 · 20 citations · Full text

Medicine, Neurology, Pharmacotherapy +11