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List of works by Dahlia M Kancheva

Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

scientific article published in September 2016

Evidence of an association between bipolar disorder and rs16917237 in the BDNF gene in a Bulgarian sample.

scientific article published in June 2013

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

scientific article published on 21 July 2014

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

scientific article published on 15 March 2015

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

scientific article published on 22 October 2015

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies

scientific article published in March 2015

Reply: Mutations in TUBB4A and spastic paraplegia

scientific article published on 19 October 2015

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