Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Bruno Moulard"'
Autor:
Arnaud Biraben, Marc Jeanpierre, Bruno Moulard, Alain Malafosse, Françoise Darcel, Pierre Genton, Jacqueline Yaouanq, Didier Mignard, Catherine Buresi, Agathe Roubertie, François Cartault
Publikováno v:
Epilepsia. 44:1357-1360
Summary: Purpose: Unverricht-Lundborg disease (ULD) is the most frequent form of progressive myoclonus epilepsy. ULD is caused mostly by a homozygous expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We present here a clinical a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00ef51abc0777ed5a37c6f3e13ada7db
https://doi.org/10.1046/j.1528-1157.2003.03703.x
https://doi.org/10.1046/j.1528-1157.2003.03703.x
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:
Alain Malafosse, Michel Guipponi, Catherine Buresi, Denys Chaigne, Bruno Moulard, Dominique Mouthon
Publikováno v:
The American Journal of Human Genetics. 65:1396-1400
SummaryWe report the identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+). Six family members manifested isolated typical febrile seizures (FS), and five had typical FS associated with generalized epilepsy (FS+, g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5921bd387ab72d313d84b993f090046d
https://doi.org/10.1086/302621
https://doi.org/10.1086/302621
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:
Jawad Khoris, Guy A. Rouleau, Y. Boukaftane, F. Salachas, A. Malafosse, Vincent Meininger, W. Camu, Bruno Moulard
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 25:192-196
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59e7b2b97f9f18724d675b414b40667c
https://doi.org/10.1017/s0317167100034004
https://doi.org/10.1017/s0317167100034004
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:
Annick Salzmann, Catherine Buresi, Arielle Crespel, Alain Malafosse, Michel Baldy-Moulinier, Bruno Moulard
Publikováno v:
Epilepsia. 46:931-933
Summary: Purpose: To reevaluate the genetic contribution of the polymorphism G1465A of the gene coding for γ-aminobutyric acid (GABA)B receptor 1 subunit [GABAB(1)] in a sample of French patients with temporal lobe epilepsy (TLE) and to perform an e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7177f45a638970a17c80b4abe7388a48
https://doi.org/10.1111/j.1528-1167.2005.40304.x
https://doi.org/10.1111/j.1528-1167.2005.40304.x
Autor:
Denys Chaigne, Miriam H. Meisler, Alain Malafosse, Catherine Buresi, Isabelle An-Gourfinkel, Andrew Escayg, Bruno Moulard, Stéphanie Baulac, Eric LeGuern, Bryan T. MacDonald, Gilles Huberfeld, Alexis Brice
Publikováno v:
Nature Genetics. 24:343-345
Generalized epilepsy with febrile seizures plus type 2 (GEFS+2, MIM 604233) is an autosomal dominant disorder characterized by febrile seizures in children and afebrile seizures in adults. We describe here two mutations of the gene encoding the neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02674e11f9da79b8bfa8bf545cc0c6fe
https://doi.org/10.1038/74159
https://doi.org/10.1038/74159
Autor:
Bruno, Moulard, Françoise, Darcel, Didier, Mignard, Marc, Jeanpierre, Pierre, Genton, François, Cartault, Jacqueline, Yaouanq, Agathe, Roubertie, Arnaud, Biraben, Catherine, Buresi, Alain, Malafosse
Publikováno v:
Epilepsia. 44(10)
Unverricht-Lundborg disease (ULD) is the most frequent form of progressive myoclonus epilepsy. ULD is caused mostly by a homozygous expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We present here a clinical and molecular study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8687940ba0fc692a1144c8fbbcc7fe3
https://pubmed.ncbi.nlm.nih.gov/14510831
https://pubmed.ncbi.nlm.nih.gov/14510831
Autor:
Michel Baldy-Moulinier, Amel Mrabet, Alain Malafosse, Françoise Darcel, Eric LeGuern, Michael A. Morris, Arielle Crespel, Barbara Utermann, Marc Jeanpierre, François Mauguière, Charlotte Dravet, T. Chkili, André Ali Chérif, Olivier Dulac, Bruno Moulard, Pierre Genton, Halima Belaidi, Véronique Humbertclaude, D. Grid, Christian Geny, Catherine Buresi, Arnaud Biraben, Philippe Kassiotis, Françoise Bertran, Reda Ouazzani
Publikováno v:
Human genetics. 111(3)
Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a87cdbaeda72498e600e998e5f3e5ccf
https://pubmed.ncbi.nlm.nih.gov/12215838
https://pubmed.ncbi.nlm.nih.gov/12215838