Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matthis Synofzik, Martine Tétreault et al.|New England Journal of Medicine|2022Cited by 243
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Tina Nanji, Shawna Feely et al.|Brain|2020Cited by 91
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Michael E. Shy, Stefan Sillau et al.|Neurology|2020Cited by 53
Variation in <i>SIPA1L2</i> is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1AFeifei Tao, Stephan Züchner, Gary W. Beecham et al.|Annals of Neurology|2019Cited by 45
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variantsChristopher J. Record, Stefania Magri, Mariola Skorupinska et al.|Brain|2023Cited by 34