Repurposing Diflunisal for Familial Amyloid PolyneuropathyJohn L. Berk, P. James B. Dyck, Alessandro Lozza et al.|JAMA|2013Cited by 701
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathyAlistair T. Pagnamenta, Emma L. Baple, Rauan Kaiyrzhanov et al.|Brain|2020Cited by 55
Intronic<i>FGF14</i>GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathyDavid Pellerin, Matthis Synofzik, Carlo Wilke et al.|Journal of Neurology Neurosurgery & Psychiatry|2023Cited by 45
Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Hélio Afonso Ghizoni Teive, Rodrigo Siqueira Soares Frezatti et al.|Neurology Genetics|2023Cited by 36
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Bernard Brais, Sarah J. Beecroft et al.|Nature Communications|2024Cited by 28