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List of works by Pedro Mancias

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

scientific article published on 01 December 2019

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

scientific article published on 26 April 2021

CMT4A: identification of a Hispanic GDAP1 founder mutation

scientific article (publication date: March 2003)

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

scientific article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

scientific article published on 24 August 2007

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

scientific article (publication date: April 2004)

Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

scientific article (publication date: April 2005)

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