Intronic<i>FGF14</i>GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathyDavid Pellerin, Matthis Synofzik, Héctor García‐Moreno et al.|Journal of Neurology Neurosurgery & Psychiatry|2023Cited by 45
<i>RTN2</i> deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Henry Houlden, Payam Sarraf et al.|Brain|2024Cited by 8
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Reza Maroofian, Alistair T. Pagnamenta et al.|Brain Communications|2024Cited by 6