É. Guern

发表

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

C. Broeckhoven, W. Robberecht, A. Brice, 2004, Human Genetics.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

D. Hannequin, M. Didic, S. Forlani, 2018, Neurobiology of Aging.

Charcot–Marie–Tooth 2-like presentation of an Algerian family with giant axonal neuropathy

T. Maisonobe, J. Vallat, D. Grid, 2000, Neuromuscular Disorders.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

K. Fischbeck, M. Lensch, P. Chance, 1995, Neurology.

Prenatal diagnosis of X‐linked retinitis pigmentosa (RP) in five pregnancies at risk

B. Dallapiccola, G. Novelli, R. Mingarelli, 1994, Prenatal diagnosis.

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11–Xq21 microsatellites in a new large family: Three new markers are closely linked to the gene

J. Weissenbach, Y. Agid, A. Vignal, 1994, Neuromuscular Disorders.

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.

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.

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Y. Agid, A. Durr, A. Dürr, 1993, Human molecular genetics.

Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families

A. Ullrich, M. Lazdunski, M. Mattei, 1990, Human Genetics.