Justine Lerat

5PUBLICATIONS
0CO-AUTHORS
Neurology and neuromuscular diseasesCryptographyFrench language
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Publications (5)

|Aug 09, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Justine Lerat, Corinne Magdelaine, Anne-Françoise Roux

|Jul 25, 2019
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Justine Lerat, Corinne Magdelaine, Paco Derouault

|Feb 09, 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Justine Lerat, Corinne Magdelaine, Hélène Beauvais-Dzugan

|Oct 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

Justine Lerat, Crystel Bonnet, François Cartault

|Apr 28, 2017
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan

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