F. Chapon

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain (2006)

Goudeau, B., Rodrigues-Lima, F., Fischer, D., Casteras-Simon, M., Sambuughin, N., Visser, M. De, ...

Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or...

Screening of TP53 mutations by DHPLC and sequencing in brain tumours from patients with an occupational exposure to pesticides or organic solvents (2005)

Loyant, V., Jaffré, A., Breton, J., Baldi, I., Vital, A., Chapon, F., ...

The aetiology of brain tumours remains unclear. Occupational exposures to pesticides and organic solvents are suspected risk factors. The case–control study CEREPHY (221 cases, 442 controls)...

Screening of TP53 mutations by DHPLC and sequencing in brain tumours from patients with an occupational exposure to pesticides or organic solvents (2005)

Loyant, V., Jaffré, A., Breton, J., Baldi, I., Vital, A., Chapon, F., ...

The aetiology of brain tumours remains unclear. Occupational exposures to pesticides and organic solvents are suspected risk factors. The case-control study CEREPHY (221 cases, 442 controls) carried...

Acute Necrotizing Vasculitis (Polyarteritis Nodosa?) Confined to the Nerve with Spontaneous Recovery (1995)

MACRO, M., DIRAISON, PH., BERTRAN, F., LECHEVALIER, B., CHAPON, F.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Ieukoencephalopathy, Genetic Homogeneity, and Mapping of the Locus within a 2-cM Interval

Ducros, A., Nagy, T., Alamowitch, S., Nibbio, A., Joutel, A., Vahedi, K., ...

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral arteriopathy characterized by the recurrence...

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

Chapon, F, Diraison, P, Lechevalier, B, Chazot, G, Viader, F, Bonnebouche, C, ...

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

Chapon, F, Latour, P, Diraison, P, Schaeffer, S, Vandenberghe, A

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness....

Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q

Notelet, L, Chapon, F, Khoury, S, Vahedi, K, Chodkiewicz, J, Courtheoux, P, ...

OBJECTIVES—To characterise clinically a large French family affected with cerebral cavernomas and to check for linkage of this condition to chromosome 7.
METHODS—A family, originating from...