1-8 of 8
Authors: Eric Leguern
Journal Article
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly Get access
Human Molecular Genetics, Volume 24, Issue 8, 15 April 2015, Pages 2218–2227, https://doi.org/10.1093/hmg/ddu740
Published: 30 December 2014
Journal Article
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease Get access
Human Molecular Genetics, Volume 22, Issue 20, 15 October 2013, Pages 4224–4232, https://doi.org/10.1093/hmg/ddt274
Published: 17 June 2013
Journal Article
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Get access
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5359–5372, https://doi.org/10.1093/hmg/dds373
Published: 04 September 2012
Journal Article
A rat model for LGI1-related epilepsies Get access
Human Molecular Genetics, Volume 21, Issue 16, 15 August 2012, Pages 3546–3557, https://doi.org/10.1093/hmg/dds184
Published: 15 May 2012
Journal Article
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease Get access
Human Molecular Genetics, Volume 10, Issue 4, 15 February 2001, Pages 415–422, https://doi.org/10.1093/hmg/10.4.415
Published: 15 February 2001
Journal Article
Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP Get access
Human Molecular Genetics, Volume 8, Issue 12, November 1999, Pages 2285–2292, https://doi.org/10.1093/hmg/8.12.2285
Published: 01 November 1999
Journal Article
Fine mapping of de novo CMT1A and HNPP rearrangements within CMTIA-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination Get access
Human Molecular Genetics, Volume 7, Issue 1, January 1998, Pages 141–148, https://doi.org/10.1093/hmg/7.1.141
Published: 01 January 1998
Journal Article
A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2? Get access
Human Molecular Genetics, Volume 5, Issue 1, January 1996, Pages 103–106, https://doi.org/10.1093/hmg/5.1.103
Published: 01 January 1996
