Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G. Ghosh, Joseph G. Gleeson, Livia Pisciotta et al.|The American Journal of Human Genetics|2018Cited by 89
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Brunhilde Wirth, Markus Storbeck et al.|Human Mutation|2018Cited by 53
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolismNatalie Keller, Mert Karakaya, Natalia Mendoza-Ferreira et al.|Neuromuscular Disorders|2020Cited by 18
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentationMert Karakaya, Brunhilde Wirth, Neda Mazaheri et al.|Brain|2017Cited by 17
Novel variants broaden the phenotypic spectrum of <i>PLEKHG5</i>‐associated neuropathiesZhongbo Chen, Payam Sarraf, Reza Maroofian et al.|European Journal of Neurology|2020Cited by 11