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List of works by Marina L Kennerson

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

scientific article published on 18 December 2019

A new autosomal dominant pure cerebellar ataxia ⬇️

scientific article published on November 27, 2001

Antenatal testing for Charcot-Marie-Tooth neuropathy

scientific article published on April 20, 1992

Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication

scientific article published on 01 November 1992

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

scientific article published on 04 March 2022

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

scientific article published on 13 January 2020

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

scientific article published on 23 March 2018

The Charcot–Marie–Tooth Binary Repeat Contains a Gene Transcribed from the Opposite Strand of a Partially Duplicated Region of theCOX10Gene ⬇️

scientific article published on November 15, 1997

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