List of works by Inherited Neuropathy Consortium

Assessing non-Mendelian inheritance in inherited axonopathies

scientific article published on 03 August 2020

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 26 May 2020

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 04 May 2020

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

scientific article published on June 2013

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

article

Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population

scientific article published on 25 December 2018

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

scientific article published on 22 February 2018

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

scientific article published on 01 March 2019

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