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

by Chapon, F, Latour, P, Diraison, P, Schaeffer, S, Vandenberghe, A
Published 1999

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, oph...

by Cuisset, Jean-Marie, Sukno, S., Trauffler, A., Latour, P., Dobbelaere, D., Michaud, L., Vallée, L.
Published in J Med Case Rep (2016)

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies

by Vandenberghe, N, Upadhyaya, M, Gatignol, A, Boutrand, L, Boucherat, M, Chazot, G, Vandenberghe, A, Latour, P
Published 2002

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

by Lagueny, A, Latour, P, Vital, A, Le Masson, G, Rouanet, M, Ferrer, X, Vital, C, Vandenberghe, A
Published 2001

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

by Morle, L., Bozon, M., Alloisio, N., Latour, P., Vandenberghe, A., Plauchu, H., Collet, L., Edery, P., Godet, J., Lina-Granade, G.
Published 2000

In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

by Colin, E., Barth, M., Boussion, F., Latour, P., Piguet-Lacroix, G., Guichet, A., Ziegler, A., Triau, S., Loisel, D., Sentilhes, L., Bonneau, D.
Published in JIMD Rep (2015)