CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysisVera Fridman, Michael E. Shy, Brian N. Bundy et al.|Journal of Neurology Neurosurgery & Psychiatry|2014Cited by 342
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg SyndromeM. Chiara Manzini, Christopher A. Walsh, Dimira Tambunan et al.|The American Journal of Human Genetics|2012Cited by 184
Phenotypic clustering of lamin A/C mutations in neuromuscular patientsSara Benedetti, Stefano C. Previtali, Daniela Toniolo et al.|Neurology|2007Cited by 131
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Joseph G. Gleeson, Matan Hofree et al.|eLife|2015Cited by 122
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