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List of works by Alexander P Drew

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

scientific article published on 3 August 2016

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

scientific article

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies

scientific article published on 16 July 2014

Co-infection with SARS-CoV-2 Omicron and Delta variants revealed by genomic surveillance

scientific article published on 18 May 2022

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

scientific article published on 28 February 2019

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

scientific article published on 02 July 2018

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

scientific article

Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies ⬇️

scientific article published on November 1, 2011

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

scientific article published on 10 December 2015

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

scientific article

Response to Brodehl et al

scientific article published on 28 September 2018

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

scientific article

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