List of works - Magdalena Zimon - Paulina

List of works by Magdalena Zimon

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

scientific article published on 4 April 2013

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes ⬇️

scientific article published on July 13, 2011

Genetic spectrum of hereditary neuropathies with onset in the first year of life ⬇️

scientific article published on August 11, 2011

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

scientific article published on 16 March 2010

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

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

scientific article published on 19 February 2011

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