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

Por Chapon, F, Latour, P, Diraison, P, Schaeffer, S, Vandenberghe, A
Publicado em 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...

Por Cuisset, Jean-Marie, Sukno, S., Trauffler, A., Latour, P., Dobbelaere, D., Michaud, L., Vallée, L.
Publicado no J Med Case Rep (2016)

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

Por Vandenberghe, N, Upadhyaya, M, Gatignol, A, Boutrand, L, Boucherat, M, Chazot, G, Vandenberghe, A, Latour, P
Publicado em 2002

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

Por Lagueny, A, Latour, P, Vital, A, Le Masson, G, Rouanet, M, Ferrer, X, Vital, C, Vandenberghe, A
Publicado em 2001

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

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

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

Por Colin, E., Barth, M., Boussion, F., Latour, P., Piguet-Lacroix, G., Guichet, A., Ziegler, A., Triau, S., Loisel, D., Sentilhes, L., Bonneau, D.
Publicado no JIMD Rep (2015)