E. le Guern

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Y. Agid, A. Brice, N. Birouk, 1997, Brain : a journal of neurology.

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

G. Chazot, R. Gouider, E. Le Guern, 1994, Cytogenetics and cell genetics.

More precise localization of the gene for Hunter syndrome.

J. Boué, I. Oberlé, P. Couillin, 1990, Genomics.

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

A. Brice, N. Birouk, E. Le Guern, 2003, Archives of neurology.

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders

E. Le Guern, S. Tardieu, O. Dubourg, 2001, Journal of Neurology.

Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map.

C. Fizames, C. Junien, A. Vignal, 1994, Genomics.

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Y. Agid, M. Ruberg, A. Durr, 1994, American journal of human genetics.

Structural features of a chimeric peptide inducing cytotoxic T lymphocyte responses in saline.

A. Delmas, Y. Trudelle, C. Delmotte, 1999, European journal of biochemistry.

Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

Y. Agid, A. Dürr, A. Brice, 1994, Annals of neurology.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

P. Svenningsson, A. Durr, A. Brice, 2021, Neurogenetics.

Loss of function of ADNP by an intragenic inversion

D. Heron, B. Keren, J. Buratti, 2023, European Journal of Human Genetics.

Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability

M. Sanson, T. Maisonobe, P. Latour, 2017, Acta oncologica.

GABAA Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

R. Miles, M. Baulac, J. Poncer, 2007, The Journal of Neuroscience.

Characterization of Recessive Parkinson Disease in a Large Multicenter Study

A. Singleton, M. Vidailhet, F. Viallet, 2020, Annals of neurology.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

F. Pasquier, C. Duyckaerts, C. van Broeckhoven, 2021, Brain : a journal of neurology.

[Hereditary neuropathy with liability to pressure palsies].

R. Gouider, E. Le Guern, T. Maisonobe, 2000, Revue neurologique.

Familial Parkinson's disease and polymorphism at the CYP2D6 locus.

Y. Agid, A. Bonnet, M. Vidailhet, 1994, Journal of neurology, neurosurgery, and psychiatry.

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

B. Plougastel, E. Bakker, V. Blanquet, 1992, Genomics.

Strategy for constructing somatic hybrids isolating the two derivative chromosomes in X;autosome translocations. Application to a female patient t(X;5) with Hunter syndrome.

A. Boué, P. Couillin, N. Ravisé, 1990, Annales de genetique.

Efficient myelin repair in the macaque spinal cord by autologous grafts of Schwann cells.

Denys Fontaine, J. Mallet, E. Le Guern, 2005, Brain : a journal of neurology.