List of works - Anne-Sophie Lia

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

scientific article published on 29 January 2020

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

scientific article published on 27 April 2017

A mutation can hide another one: Think Structural Variants!

scientific article published on 02 August 2020

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies

scientific article published on 15 September 2020

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature

scientific article published on 26 February 2019

ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum

scientific article published on 30 October 2020

Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma

scientific article published on 15 November 2019

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

scientific article published on 06 April 2019

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification

scientific article published on 05 August 2015

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients

scientific article published on 06 January 2021

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

scientific article published on 12 February 2020

Focus on 1,25-Dihydroxyvitamin D3 in the Peripheral Nervous System

scientific article published on 12 April 2019

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

scientific article published on 08 August 2019

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

scientific article published on 17 April 2019

New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation

scientific article published on 21 June 2016

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

scientific article published on 23 July 2019

Normal serum protein electrophoresis and mutated IGHV genes detect very slowly evolving chronic lymphocytic leukemia patients.

scientific article

One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form

scientific article published on 15 December 2020

Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients

scientific article published on 27 June 2020

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

scientific article published on 22 October 2020

Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP

scientific article published on 21 January 2019

List of works by Anne-Sophie Lia