Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Valerie Briolotti"'
Autor:
Pierre Clavelou, Jawad Khoris, A. Durieux, Guy A. Rouleau, A. Malafosse, William Camu, Valerie Briolotti, M. Hayer, Bruno Moulard
Publikováno v:
European Journal of Neurology. 7:207-211
The Cu,Zn superoxide dismutase (Cu,Zn SOD) mutations described in amyotrophic lateral sclerosis (ALS) have, for the most part, a dominant influence . However, while a few cases with a heterozygous D90A mutation have been described in different countr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f8b530e7939dfaee431059669c64a1c
https://doi.org/10.1046/j.1468-1331.2000.00028.x
https://doi.org/10.1046/j.1468-1331.2000.00028.x
Autor:
Jawad Khoris, Valerie Briolotti, Guy A. Rouleau, William Camu, François Salachas, Bruno Moulard, Vincent Meininger
Publikováno v:
Journal of the Neurological Sciences. 165:S21-S26
Familial amyotrophic lateral sclerosis (fALS) is a well-recognised condition that accounts for almost 10% of all cases of ALS. Most cases are now known to be transmitted by an autosomal dominant trait. When fALS is compared clinically to sporadic ALS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f4e653a34a76047874f218a2db6b04c
https://doi.org/10.1016/s0022-510x(99)00022-2
https://doi.org/10.1016/s0022-510x(99)00022-2
Autor:
Bénédicte Chassande, William Camu, Valerie Briolotti, Vincent Meininger, François Salachas, Bruno Moulard, Alain Malafosse
Publikováno v:
Annals of Neurology. 43:640-644
The telomeric copy (t) of the survival motor neuron (SMN) gene is homozygously deleted in more than 90% of patients with infantile motor neuron disease (MND). In the general population, no homozygous SMNt deletion has been found, whereas 5% of centro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f32176affd2c4639a64957854ab787
https://doi.org/10.1002/ana.410430513
https://doi.org/10.1002/ana.410430513
Autor:
Collette K. Hand, Veronique Mayeux-Portas, Jawad Khoris, Valerie Briolotti, Pierre Clavelou, William Camu, Guy A. Rouleau
Publikováno v:
Annals of Neurology. 50:554-554
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b1c14ab114398671729baa6fb41391a
https://doi.org/10.1002/ana.1152
https://doi.org/10.1002/ana.1152